Incidental Mutation 'R0254:Smchd1'
| ID |
34613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
MommeD1, 4931400A14Rik |
| MMRRC Submission |
038485-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.838)
|
| Stock # |
R0254 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71651484-71782338 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71718886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 828
(F828I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127430
AA Change: F828I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: F828I
| 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 |
|
| Meta Mutation Damage Score |
0.0596 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
100% (100/100) |
| 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: 97 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
A |
6: 146,853,902 (GRCm39) |
M252L |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,127,615 (GRCm39) |
V314A |
probably benign |
Het |
| Abcb1b |
A |
T |
5: 8,877,409 (GRCm39) |
E656D |
probably benign |
Het |
| Abhd4 |
T |
C |
14: 54,500,691 (GRCm39) |
I160T |
probably benign |
Het |
| Aco2 |
T |
C |
15: 81,773,557 (GRCm39) |
V32A |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,552,406 (GRCm39) |
|
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,386,352 (GRCm39) |
|
probably benign |
Het |
| Alpk3 |
A |
T |
7: 80,726,722 (GRCm39) |
T136S |
probably benign |
Het |
| Ap1g1 |
G |
T |
8: 110,529,749 (GRCm39) |
M56I |
probably benign |
Het |
| Arid2 |
C |
T |
15: 96,268,452 (GRCm39) |
T855I |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,606,077 (GRCm39) |
F308L |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp11b |
T |
A |
3: 35,866,259 (GRCm39) |
M378K |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,680,937 (GRCm39) |
|
probably benign |
Het |
| Blk |
C |
A |
14: 63,618,253 (GRCm39) |
A218S |
probably benign |
Het |
| C4b |
T |
A |
17: 34,953,750 (GRCm39) |
T953S |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,813,356 (GRCm39) |
|
probably benign |
Het |
| Cdca2 |
C |
A |
14: 67,914,627 (GRCm39) |
L877F |
probably damaging |
Het |
| Ceacam10 |
G |
T |
7: 24,477,733 (GRCm39) |
V83L |
probably damaging |
Het |
| Cep290 |
A |
T |
10: 100,350,436 (GRCm39) |
I677F |
probably benign |
Het |
| Clip1 |
A |
T |
5: 123,755,395 (GRCm39) |
|
probably benign |
Het |
| Col11a2 |
G |
T |
17: 34,283,777 (GRCm39) |
|
probably benign |
Het |
| Coro1c |
A |
T |
5: 113,983,313 (GRCm39) |
V405D |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,958,568 (GRCm39) |
T13A |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,804,694 (GRCm39) |
E1835G |
probably damaging |
Het |
| Cubn |
A |
T |
2: 13,480,846 (GRCm39) |
|
probably null |
Het |
| Cubn |
T |
C |
2: 13,429,505 (GRCm39) |
N1332S |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,445,325 (GRCm39) |
T1014A |
possibly damaging |
Het |
| Efnb1 |
T |
C |
X: 98,180,634 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
G |
T |
3: 51,215,611 (GRCm39) |
P33Q |
probably damaging |
Het |
| Fap |
C |
T |
2: 62,333,746 (GRCm39) |
G633D |
probably damaging |
Het |
| Gm10288 |
T |
C |
3: 146,544,675 (GRCm39) |
|
noncoding transcript |
Het |
| Got2 |
T |
C |
8: 96,596,166 (GRCm39) |
N318S |
probably benign |
Het |
| Guk1 |
A |
T |
11: 59,076,854 (GRCm39) |
F76L |
probably damaging |
Het |
| H2-K2 |
A |
T |
17: 34,215,639 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
C |
A |
2: 180,874,552 (GRCm39) |
G1981C |
probably damaging |
Het |
| Hinfp |
G |
A |
9: 44,209,536 (GRCm39) |
H250Y |
probably damaging |
Het |
| Hnrnpm |
C |
T |
17: 33,871,242 (GRCm39) |
|
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,249,699 (GRCm39) |
V270E |
possibly damaging |
Het |
| Igbp1b |
A |
T |
6: 138,635,201 (GRCm39) |
M81K |
probably damaging |
Het |
| Kif11 |
A |
G |
19: 37,399,957 (GRCm39) |
T815A |
probably benign |
Het |
| Kit |
G |
A |
5: 75,781,581 (GRCm39) |
V337I |
probably benign |
Het |
| Klf11 |
T |
C |
12: 24,703,582 (GRCm39) |
S6P |
probably damaging |
Het |
| Klk13 |
T |
C |
7: 43,373,245 (GRCm39) |
V193A |
probably benign |
Het |
| Krt73 |
T |
A |
15: 101,708,324 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
T |
A |
4: 98,625,419 (GRCm39) |
L538* |
probably null |
Het |
| Macf1 |
A |
G |
4: 123,326,572 (GRCm39) |
L2061P |
probably damaging |
Het |
| Mcm2 |
A |
G |
6: 88,860,998 (GRCm39) |
I900T |
probably damaging |
Het |
| Med16 |
A |
T |
10: 79,736,034 (GRCm39) |
N371K |
possibly damaging |
Het |
| Mepce |
A |
C |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mrc2 |
C |
G |
11: 105,238,692 (GRCm39) |
P1249R |
probably benign |
Het |
| Mx2 |
A |
T |
16: 97,357,295 (GRCm39) |
I463L |
probably benign |
Het |
| Naaa |
A |
T |
5: 92,412,994 (GRCm39) |
N73K |
probably damaging |
Het |
| Nags |
T |
A |
11: 102,038,771 (GRCm39) |
L404Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,133,402 (GRCm39) |
Y3379H |
probably damaging |
Het |
| Nhsl1 |
A |
G |
10: 18,348,733 (GRCm39) |
E120G |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,630,536 (GRCm39) |
S108P |
probably damaging |
Het |
| Or4f53 |
A |
C |
2: 111,087,466 (GRCm39) |
N2T |
probably benign |
Het |
| Or51a42 |
T |
C |
7: 103,708,728 (GRCm39) |
H27R |
probably benign |
Het |
| Or51ah3 |
T |
A |
7: 103,209,829 (GRCm39) |
Y48* |
probably null |
Het |
| Or51f5 |
C |
A |
7: 102,424,076 (GRCm39) |
S115* |
probably null |
Het |
| Pcnt |
A |
G |
10: 76,228,414 (GRCm39) |
F1584L |
probably benign |
Het |
| Pdgfra |
G |
A |
5: 75,328,596 (GRCm39) |
V243I |
probably damaging |
Het |
| Polr2a |
T |
C |
11: 69,634,497 (GRCm39) |
I689V |
possibly damaging |
Het |
| Ppfia4 |
C |
A |
1: 134,251,962 (GRCm39) |
|
probably benign |
Het |
| Prmt8 |
C |
A |
6: 127,688,771 (GRCm39) |
V200L |
probably damaging |
Het |
| Prpf8 |
T |
A |
11: 75,397,188 (GRCm39) |
I2007N |
possibly damaging |
Het |
| Ptpn6 |
T |
C |
6: 124,705,113 (GRCm39) |
E230G |
probably damaging |
Het |
| R3hcc1l |
G |
A |
19: 42,551,587 (GRCm39) |
V195I |
probably damaging |
Het |
| Rb1cc1 |
C |
T |
1: 6,333,071 (GRCm39) |
T1330I |
probably damaging |
Het |
| Reep3 |
G |
T |
10: 66,857,575 (GRCm39) |
T172N |
probably benign |
Het |
| Rfwd3 |
A |
G |
8: 112,020,655 (GRCm39) |
V236A |
probably benign |
Het |
| Rgs22 |
T |
C |
15: 36,104,698 (GRCm39) |
I121V |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,461,058 (GRCm39) |
F11I |
probably benign |
Het |
| Rsrc2 |
A |
G |
5: 123,878,910 (GRCm39) |
|
probably benign |
Het |
| Rubcn |
A |
G |
16: 32,668,316 (GRCm39) |
V117A |
probably benign |
Het |
| Scamp1 |
T |
G |
13: 94,347,088 (GRCm39) |
N192T |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,916,245 (GRCm39) |
I1218N |
probably damaging |
Het |
| Serinc1 |
A |
G |
10: 57,399,304 (GRCm39) |
S200P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,518,574 (GRCm39) |
F358Y |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,839,165 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,906,462 (GRCm39) |
M386V |
possibly damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,329 (GRCm39) |
F963L |
probably benign |
Het |
| Smr2l |
A |
T |
5: 88,430,230 (GRCm39) |
H42L |
possibly damaging |
Het |
| Stab2 |
G |
T |
10: 86,733,824 (GRCm39) |
Q1333K |
probably benign |
Het |
| Svop |
T |
C |
5: 114,176,600 (GRCm39) |
S349G |
probably benign |
Het |
| Tdrd1 |
G |
A |
19: 56,830,998 (GRCm39) |
S271N |
probably benign |
Het |
| Tec |
G |
A |
5: 72,941,081 (GRCm39) |
P159S |
probably benign |
Het |
| Tec |
T |
C |
5: 72,920,899 (GRCm39) |
|
probably benign |
Het |
| Tfip11 |
G |
A |
5: 112,483,521 (GRCm39) |
M645I |
probably benign |
Het |
| Thap12 |
A |
T |
7: 98,364,488 (GRCm39) |
T219S |
probably benign |
Het |
| Tmem87a |
C |
T |
2: 120,205,988 (GRCm39) |
R329H |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,562,719 (GRCm39) |
Y227H |
probably damaging |
Het |
| Urah |
G |
A |
7: 140,417,602 (GRCm39) |
V114I |
probably benign |
Het |
| Wnt5a |
G |
A |
14: 28,244,811 (GRCm39) |
E353K |
probably damaging |
Het |
| Zfp1004 |
G |
A |
2: 150,033,784 (GRCm39) |
R35K |
possibly damaging |
Het |
| Zfp101 |
A |
T |
17: 33,599,952 (GRCm39) |
H601Q |
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 |
|
R0391:Smchd1
|
UTSW |
17 |
71,710,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Smchd1
|
UTSW |
17 |
71,701,897 (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'- GGCCTGGGACCAAATAAATCCTCTG -3'
(R):5'- AGGGCAGCCTACATAGTGAGACTG -3'
Sequencing Primer
(F):5'- TGGGACCAAATAAATCCTCTGGAATC -3'
(R):5'- ttgactactgagccatcttcc -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation