Incidental Mutation 'R0403:Smchd1'
| ID |
35743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
038608-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R0403 (G1)
|
| Quality Score |
147 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 71701897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1032
(L1032F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: L1032F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: L1032F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HATPase_c_3
|
139 |
299 |
6.8e-16 |
PFAM |
|
low complexity region
|
451 |
457 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
859 |
1087 |
9.1e-5 |
PROSPERO |
|
low complexity region
|
1185 |
1196 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
1205 |
1409 |
9.1e-5 |
PROSPERO |
|
coiled coil region
|
1649 |
1680 |
N/A |
INTRINSIC |
|
SMC_hinge
|
1721 |
1848 |
1.64e-15 |
SMART |
|
low complexity region
|
1940 |
1954 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195774
|
| Meta Mutation Damage Score |
0.0707 |
| Coding Region Coverage |
- 1x: 98.0%
- 3x: 96.8%
- 10x: 93.2%
- 20x: 83.7%
|
| Validation Efficiency |
97% (110/113) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]
PHENOTYPE: Females homozygous for an ENU-induced allele die at midgestation showing placental defects and hypomethylation at X-linked genes that are normally subject to X-inactivation, whereas homozygous males are viable. Females homozygous for a gene trap allele die before E13.5, whereas males remain healthy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 105 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,864,706 (GRCm39) |
|
probably null |
Het |
| Adgrg3 |
C |
T |
8: 95,763,550 (GRCm39) |
L284F |
probably benign |
Het |
| Alkbh8 |
T |
A |
9: 3,385,469 (GRCm39) |
V587E |
probably damaging |
Het |
| Ap4b1 |
T |
A |
3: 103,728,712 (GRCm39) |
M590K |
probably benign |
Het |
| Ap4b1 |
T |
A |
3: 103,726,155 (GRCm39) |
C244S |
probably damaging |
Het |
| Arhgap15 |
C |
T |
2: 43,953,778 (GRCm39) |
T168I |
probably damaging |
Het |
| Atp8b1 |
A |
G |
18: 64,673,381 (GRCm39) |
V997A |
probably damaging |
Het |
| Atrn |
G |
A |
2: 130,748,779 (GRCm39) |
C100Y |
probably damaging |
Het |
| Baiap2l2 |
C |
A |
15: 79,155,416 (GRCm39) |
A151S |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,799,721 (GRCm39) |
D199E |
possibly damaging |
Het |
| Bmal2 |
T |
A |
6: 146,724,153 (GRCm39) |
H348Q |
probably damaging |
Het |
| Cblb |
A |
G |
16: 51,972,989 (GRCm39) |
D440G |
probably benign |
Het |
| Cdon |
T |
C |
9: 35,384,796 (GRCm39) |
V694A |
probably benign |
Het |
| Cep250 |
A |
T |
2: 155,834,269 (GRCm39) |
R2065W |
probably damaging |
Het |
| Ces2b |
G |
T |
8: 105,560,577 (GRCm39) |
A131S |
probably damaging |
Het |
| Chrna9 |
A |
T |
5: 66,125,235 (GRCm39) |
T59S |
possibly damaging |
Het |
| Cog3 |
T |
A |
14: 75,979,767 (GRCm39) |
|
probably benign |
Het |
| Cpa1 |
G |
A |
6: 30,641,856 (GRCm39) |
V227I |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,935,323 (GRCm39) |
C98S |
probably damaging |
Het |
| D8Ertd738e |
C |
T |
8: 84,976,230 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,447,575 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,193,942 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
A |
11: 65,975,615 (GRCm39) |
Q1478L |
possibly damaging |
Het |
| Dock10 |
T |
C |
1: 80,501,787 (GRCm39) |
Y1434C |
possibly damaging |
Het |
| Enpp3 |
T |
A |
10: 24,680,334 (GRCm39) |
D325V |
probably damaging |
Het |
| Entpd6 |
C |
A |
2: 150,602,090 (GRCm39) |
T194K |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,161,175 (GRCm39) |
V3185E |
probably benign |
Het |
| Flrt1 |
A |
G |
19: 7,073,284 (GRCm39) |
L421P |
probably benign |
Het |
| Fmn2 |
A |
T |
1: 174,521,844 (GRCm39) |
Q1292L |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,972,555 (GRCm39) |
D1459G |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,994,420 (GRCm39) |
|
probably null |
Het |
| Fzr1 |
A |
G |
10: 81,205,202 (GRCm39) |
S265P |
possibly damaging |
Het |
| Gpr142 |
G |
A |
11: 114,696,855 (GRCm39) |
V134M |
probably damaging |
Het |
| Grid2ip |
G |
T |
5: 143,343,375 (GRCm39) |
V24L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,809,165 (GRCm39) |
R2555H |
probably damaging |
Het |
| Hpdl |
A |
T |
4: 116,677,676 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Htr3a |
A |
G |
9: 48,819,959 (GRCm39) |
V57A |
probably damaging |
Het |
| Igfbp7 |
T |
C |
5: 77,503,438 (GRCm39) |
I186V |
probably benign |
Het |
| Itga2b |
C |
T |
11: 102,358,152 (GRCm39) |
|
probably null |
Het |
| Itgae |
A |
C |
11: 73,014,009 (GRCm39) |
D736A |
possibly damaging |
Het |
| Itpkc |
T |
A |
7: 26,907,770 (GRCm39) |
M645L |
probably benign |
Het |
| Jchain |
T |
C |
5: 88,669,237 (GRCm39) |
R139G |
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,944,877 (GRCm39) |
V908A |
probably damaging |
Het |
| Kif1b |
T |
A |
4: 149,266,424 (GRCm39) |
K389* |
probably null |
Het |
| Klhl12 |
T |
C |
1: 134,413,594 (GRCm39) |
Y360H |
possibly damaging |
Het |
| Knop1 |
G |
A |
7: 118,452,276 (GRCm39) |
R148W |
probably damaging |
Het |
| Lpar1 |
T |
A |
4: 58,487,191 (GRCm39) |
N27Y |
probably damaging |
Het |
| Lpar2 |
T |
A |
8: 70,276,802 (GRCm39) |
V197D |
probably damaging |
Het |
| Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
| Lum |
G |
T |
10: 97,407,905 (GRCm39) |
V337F |
probably benign |
Het |
| Mag |
T |
C |
7: 30,606,405 (GRCm39) |
D344G |
probably damaging |
Het |
| Maip1 |
G |
A |
1: 57,446,355 (GRCm39) |
A142T |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,315,742 (GRCm39) |
V148A |
possibly damaging |
Het |
| Nav3 |
A |
G |
10: 109,602,964 (GRCm39) |
V1195A |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,110,401 (GRCm39) |
S868P |
possibly damaging |
Het |
| Nek1 |
A |
G |
8: 61,559,889 (GRCm39) |
E907G |
probably damaging |
Het |
| Nfam1 |
G |
A |
15: 82,900,580 (GRCm39) |
T134I |
probably benign |
Het |
| Nr0b2 |
T |
C |
4: 133,281,070 (GRCm39) |
V112A |
probably damaging |
Het |
| Nrp1 |
A |
G |
8: 129,184,450 (GRCm39) |
N365S |
probably damaging |
Het |
| Nrsn2 |
T |
C |
2: 152,211,710 (GRCm39) |
Y107C |
probably damaging |
Het |
| Ntng1 |
G |
A |
3: 109,841,927 (GRCm39) |
A282V |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,742,392 (GRCm39) |
I337T |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,967,366 (GRCm39) |
G479D |
probably damaging |
Het |
| Oprd1 |
T |
A |
4: 131,841,079 (GRCm39) |
D293V |
probably benign |
Het |
| Or13a17 |
T |
C |
7: 140,271,222 (GRCm39) |
S135P |
possibly damaging |
Het |
| P3h2 |
T |
G |
16: 25,788,700 (GRCm39) |
N586H |
possibly damaging |
Het |
| Pcid2 |
T |
C |
8: 13,135,367 (GRCm39) |
Y214C |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
| Ppic |
C |
A |
18: 53,544,143 (GRCm39) |
G81W |
probably damaging |
Het |
| Ppp2r1a |
C |
A |
17: 21,177,303 (GRCm39) |
P246T |
probably damaging |
Het |
| Ppp4r4 |
T |
G |
12: 103,550,361 (GRCm39) |
S46A |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,216 (GRCm39) |
N178S |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,081 (GRCm39) |
T21A |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,142,504 (GRCm39) |
E210G |
possibly damaging |
Het |
| Prss35 |
A |
G |
9: 86,638,090 (GRCm39) |
M287V |
probably damaging |
Het |
| Psd |
G |
A |
19: 46,309,411 (GRCm39) |
|
probably benign |
Het |
| Ptch2 |
A |
T |
4: 116,968,036 (GRCm39) |
K843* |
probably null |
Het |
| Rab44 |
C |
A |
17: 29,364,235 (GRCm39) |
T603K |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,611,764 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
A |
G |
7: 122,591,519 (GRCm39) |
T526A |
probably damaging |
Het |
| Ros1 |
A |
T |
10: 52,019,534 (GRCm39) |
|
probably benign |
Het |
| Sec24b |
T |
A |
3: 129,783,325 (GRCm39) |
L1104F |
possibly damaging |
Het |
| Sec24b |
A |
G |
3: 129,793,183 (GRCm39) |
S685P |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Setmar |
A |
T |
6: 108,052,923 (GRCm39) |
H139L |
probably benign |
Het |
| Slc28a2b |
T |
C |
2: 122,352,335 (GRCm39) |
L364S |
probably damaging |
Het |
| Slc4a7 |
T |
C |
14: 14,766,808 (GRCm38) |
V710A |
probably benign |
Het |
| Smarcc1 |
T |
A |
9: 110,066,876 (GRCm39) |
|
probably null |
Het |
| Speg |
T |
C |
1: 75,407,428 (GRCm39) |
|
probably benign |
Het |
| Tasor2 |
A |
T |
13: 3,632,052 (GRCm39) |
Y816* |
probably null |
Het |
| Tcea1 |
C |
G |
1: 4,959,726 (GRCm39) |
R134G |
probably benign |
Het |
| Tchhl1 |
C |
T |
3: 93,378,336 (GRCm39) |
Q347* |
probably null |
Het |
| Tecrl |
A |
T |
5: 83,502,605 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
T |
C |
11: 119,984,508 (GRCm39) |
|
probably benign |
Het |
| Tmem40 |
G |
A |
6: 115,710,946 (GRCm39) |
|
probably benign |
Het |
| Tpr |
G |
A |
1: 150,283,165 (GRCm39) |
|
probably benign |
Het |
| Ttll12 |
A |
T |
15: 83,464,859 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,739,952 (GRCm39) |
D3529V |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,283,838 (GRCm39) |
H177Q |
possibly damaging |
Het |
| Vsig10 |
T |
A |
5: 117,476,526 (GRCm39) |
S327T |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,668,465 (GRCm39) |
M396K |
probably damaging |
Het |
| Zfp352 |
C |
T |
4: 90,113,246 (GRCm39) |
T462I |
possibly damaging |
Het |
| Zfp385b |
T |
C |
2: 77,307,189 (GRCm39) |
M145V |
probably damaging |
Het |
| Zfp780b |
C |
A |
7: 27,671,114 (GRCm39) |
V65F |
possibly damaging |
Het |
|
| Other mutations in Smchd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Smchd1
|
APN |
17 |
71,772,668 (GRCm39) |
splice site |
probably benign |
|
|
IGL00529:Smchd1
|
APN |
17 |
71,701,794 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL00642:Smchd1
|
APN |
17 |
71,697,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00821:Smchd1
|
APN |
17 |
71,705,618 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL01330:Smchd1
|
APN |
17 |
71,743,783 (GRCm39) |
missense |
probably benign |
|
|
IGL01432:Smchd1
|
APN |
17 |
71,738,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01473:Smchd1
|
APN |
17 |
71,696,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01705:Smchd1
|
APN |
17 |
71,688,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01787:Smchd1
|
APN |
17 |
71,698,413 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01814:Smchd1
|
APN |
17 |
71,685,182 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01976:Smchd1
|
APN |
17 |
71,701,720 (GRCm39) |
nonsense |
probably null |
|
|
IGL01995:Smchd1
|
APN |
17 |
71,751,015 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02090:Smchd1
|
APN |
17 |
71,738,248 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02302:Smchd1
|
APN |
17 |
71,665,128 (GRCm39) |
splice site |
probably benign |
|
|
IGL02309:Smchd1
|
APN |
17 |
71,750,898 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL02391:Smchd1
|
APN |
17 |
71,738,254 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02515:Smchd1
|
APN |
17 |
71,747,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02644:Smchd1
|
APN |
17 |
71,667,016 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Smchd1
|
APN |
17 |
71,667,186 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03212:Smchd1
|
APN |
17 |
71,750,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03236:Smchd1
|
APN |
17 |
71,698,425 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03297:Smchd1
|
APN |
17 |
71,656,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
Dry_tortugas
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Smchd1
|
UTSW |
17 |
71,738,231 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0254:Smchd1
|
UTSW |
17 |
71,718,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0391:Smchd1
|
UTSW |
17 |
71,710,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0499:Smchd1
|
UTSW |
17 |
71,694,083 (GRCm39) |
missense |
probably benign |
|
|
R0520:Smchd1
|
UTSW |
17 |
71,736,538 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0616:Smchd1
|
UTSW |
17 |
71,686,569 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1120:Smchd1
|
UTSW |
17 |
71,665,141 (GRCm39) |
nonsense |
probably null |
|
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Smchd1
|
UTSW |
17 |
71,656,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Smchd1
|
UTSW |
17 |
71,668,832 (GRCm39) |
splice site |
probably benign |
|
|
R1484:Smchd1
|
UTSW |
17 |
71,685,252 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1501:Smchd1
|
UTSW |
17 |
71,672,089 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1718:Smchd1
|
UTSW |
17 |
71,755,828 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1765:Smchd1
|
UTSW |
17 |
71,707,196 (GRCm39) |
splice site |
probably benign |
|
|
R1766:Smchd1
|
UTSW |
17 |
71,698,374 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1803:Smchd1
|
UTSW |
17 |
71,694,001 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1829:Smchd1
|
UTSW |
17 |
71,677,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1850:Smchd1
|
UTSW |
17 |
71,696,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1917:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1918:Smchd1
|
UTSW |
17 |
71,714,232 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1936:Smchd1
|
UTSW |
17 |
71,770,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2024:Smchd1
|
UTSW |
17 |
71,677,923 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2147:Smchd1
|
UTSW |
17 |
71,705,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2180:Smchd1
|
UTSW |
17 |
71,770,794 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2398:Smchd1
|
UTSW |
17 |
71,733,431 (GRCm39) |
splice site |
probably benign |
|
|
R2398:Smchd1
|
UTSW |
17 |
71,667,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2935:Smchd1
|
UTSW |
17 |
71,718,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Smchd1
|
UTSW |
17 |
71,670,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3021:Smchd1
|
UTSW |
17 |
71,694,093 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3808:Smchd1
|
UTSW |
17 |
71,736,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Smchd1
|
UTSW |
17 |
71,735,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4486:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4487:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4488:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4489:Smchd1
|
UTSW |
17 |
71,714,230 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4723:Smchd1
|
UTSW |
17 |
71,743,742 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Smchd1
|
UTSW |
17 |
71,698,463 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4798:Smchd1
|
UTSW |
17 |
71,667,048 (GRCm39) |
nonsense |
probably null |
|
|
R4814:Smchd1
|
UTSW |
17 |
71,718,763 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4882:Smchd1
|
UTSW |
17 |
71,665,234 (GRCm39) |
intron |
probably benign |
|
|
R5088:Smchd1
|
UTSW |
17 |
71,738,343 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5589:Smchd1
|
UTSW |
17 |
71,747,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Smchd1
|
UTSW |
17 |
71,762,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Smchd1
|
UTSW |
17 |
71,701,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5994:Smchd1
|
UTSW |
17 |
71,672,404 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6009:Smchd1
|
UTSW |
17 |
71,747,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6042:Smchd1
|
UTSW |
17 |
71,684,052 (GRCm39) |
nonsense |
probably null |
|
|
R6082:Smchd1
|
UTSW |
17 |
71,656,714 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6126:Smchd1
|
UTSW |
17 |
71,677,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6294:Smchd1
|
UTSW |
17 |
71,677,922 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6788:Smchd1
|
UTSW |
17 |
71,782,096 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6853:Smchd1
|
UTSW |
17 |
71,743,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Smchd1
|
UTSW |
17 |
71,660,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Smchd1
|
UTSW |
17 |
71,656,662 (GRCm39) |
missense |
probably benign |
|
|
R7045:Smchd1
|
UTSW |
17 |
71,722,039 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7068:Smchd1
|
UTSW |
17 |
71,694,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7085:Smchd1
|
UTSW |
17 |
71,672,214 (GRCm39) |
splice site |
probably null |
|
|
R7089:Smchd1
|
UTSW |
17 |
71,668,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7145:Smchd1
|
UTSW |
17 |
71,685,202 (GRCm39) |
missense |
probably benign |
|
|
R7158:Smchd1
|
UTSW |
17 |
71,707,145 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7180:Smchd1
|
UTSW |
17 |
71,701,818 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7183:Smchd1
|
UTSW |
17 |
71,660,511 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7214:Smchd1
|
UTSW |
17 |
71,652,359 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7414:Smchd1
|
UTSW |
17 |
71,782,074 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7512:Smchd1
|
UTSW |
17 |
71,688,364 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7631:Smchd1
|
UTSW |
17 |
71,705,684 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7641:Smchd1
|
UTSW |
17 |
71,697,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Smchd1
|
UTSW |
17 |
71,665,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Smchd1
|
UTSW |
17 |
71,718,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Smchd1
|
UTSW |
17 |
71,782,296 (GRCm39) |
start gained |
probably benign |
|
|
R7898:Smchd1
|
UTSW |
17 |
71,684,813 (GRCm39) |
splice site |
probably null |
|
|
R7965:Smchd1
|
UTSW |
17 |
71,762,621 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8177:Smchd1
|
UTSW |
17 |
71,697,448 (GRCm39) |
missense |
probably benign |
0.28 |
|
R8359:Smchd1
|
UTSW |
17 |
71,738,238 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8370:Smchd1
|
UTSW |
17 |
71,701,908 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8426:Smchd1
|
UTSW |
17 |
71,755,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:Smchd1
|
UTSW |
17 |
71,714,244 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8948:Smchd1
|
UTSW |
17 |
71,743,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8954:Smchd1
|
UTSW |
17 |
71,755,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9041:Smchd1
|
UTSW |
17 |
71,701,710 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9054:Smchd1
|
UTSW |
17 |
71,670,017 (GRCm39) |
nonsense |
probably null |
|
|
R9141:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9169:Smchd1
|
UTSW |
17 |
71,722,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9231:Smchd1
|
UTSW |
17 |
71,672,084 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9368:Smchd1
|
UTSW |
17 |
71,694,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9374:Smchd1
|
UTSW |
17 |
71,718,843 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9416:Smchd1
|
UTSW |
17 |
71,701,791 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9426:Smchd1
|
UTSW |
17 |
71,672,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9491:Smchd1
|
UTSW |
17 |
71,667,020 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9511:Smchd1
|
UTSW |
17 |
71,750,899 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9591:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Smchd1
|
UTSW |
17 |
71,701,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Smchd1
|
UTSW |
17 |
71,668,836 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGACGCTGCCTCCTTGC -3'
(R):5'- ACTGTAGCCAGTCCTATTTATGCCTGA -3'
Sequencing Primer
(F):5'- aaaccataatttatttagcaccaacc -3'
(R):5'- gcttgaactcctgacctcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation