Incidental Mutation 'R0391:Smchd1'
| ID |
186150 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smchd1
|
| Ensembl Gene |
ENSMUSG00000024054 |
| Gene Name |
SMC hinge domain containing 1 |
| Synonyms |
4931400A14Rik, MommeD1 |
| MMRRC Submission |
038597-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.874)
|
| Stock # |
R0391 (G1)
|
| Quality Score |
80 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
71344489-71475343 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 71403154 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 906
(V906D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127430]
|
| AlphaFold |
Q6P5D8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000127430
AA Change: V906D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121835
Gene: ENSMUSG00000024054
AA Change: V906D
| 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 |
0.8503 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.8%
|
| Validation Efficiency |
97% (97/100) |
| 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 |
|---|
| 9530002B09Rik |
T |
A |
4: 122,701,177 (GRCm38) |
|
probably benign |
Het |
| Abcc2 |
G |
A |
19: 43,821,605 (GRCm38) |
|
probably benign |
Het |
| Abcc8 |
C |
G |
7: 46,122,173 (GRCm38) |
G838A |
probably damaging |
Het |
| Akr1c21 |
G |
A |
13: 4,581,200 (GRCm38) |
A245T |
probably damaging |
Het |
| Anapc15-ps |
T |
C |
10: 95,673,277 (GRCm38) |
E47G |
probably damaging |
Het |
| Apoa1 |
A |
G |
9: 46,229,842 (GRCm38) |
T79A |
probably benign |
Het |
| Atp6v1b1 |
A |
G |
6: 83,756,921 (GRCm38) |
H378R |
possibly damaging |
Het |
| C4b |
A |
G |
17: 34,735,614 (GRCm38) |
|
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,662,821 (GRCm38) |
E638D |
probably benign |
Het |
| Cckar |
C |
T |
5: 53,706,253 (GRCm38) |
|
probably null |
Het |
| Cfap100 |
C |
T |
6: 90,405,339 (GRCm38) |
|
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,749,894 (GRCm38) |
G970C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,446,259 (GRCm38) |
|
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,663,824 (GRCm38) |
V698M |
probably damaging |
Het |
| Cpeb1 |
T |
C |
7: 81,361,725 (GRCm38) |
D156G |
possibly damaging |
Het |
| Cryl1 |
A |
G |
14: 57,303,775 (GRCm38) |
Y151H |
possibly damaging |
Het |
| Csmd3 |
C |
A |
15: 47,657,573 (GRCm38) |
V1881L |
probably damaging |
Het |
| Ctnnal1 |
C |
T |
4: 56,847,921 (GRCm38) |
A73T |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,994,506 (GRCm38) |
S180P |
probably damaging |
Het |
| Cyp2c54 |
T |
C |
19: 40,072,169 (GRCm38) |
T123A |
possibly damaging |
Het |
| Dennd6b |
T |
C |
15: 89,187,214 (GRCm38) |
D304G |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 78,051,916 (GRCm38) |
|
probably benign |
Het |
| Eci1 |
G |
A |
17: 24,433,260 (GRCm38) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 20,960,188 (GRCm38) |
Y115C |
probably damaging |
Het |
| Ern1 |
T |
A |
11: 106,407,178 (GRCm38) |
K706* |
probably null |
Het |
| Ghrl |
T |
C |
6: 113,719,338 (GRCm38) |
E31G |
probably damaging |
Het |
| Gpr108 |
A |
C |
17: 57,243,101 (GRCm38) |
V179G |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,958,535 (GRCm38) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,286,667 (GRCm38) |
V69A |
probably damaging |
Het |
| Il17ra |
T |
C |
6: 120,476,979 (GRCm38) |
|
probably benign |
Het |
| Il17rb |
T |
C |
14: 30,004,347 (GRCm38) |
N95D |
probably benign |
Het |
| Il17rb |
G |
T |
14: 30,006,155 (GRCm38) |
|
probably null |
Het |
| Iqub |
G |
A |
6: 24,446,155 (GRCm38) |
L757F |
probably benign |
Het |
| Itpr1 |
T |
C |
6: 108,378,167 (GRCm38) |
V473A |
probably benign |
Het |
| Itpr2 |
T |
G |
6: 146,229,773 (GRCm38) |
N1978H |
probably damaging |
Het |
| Klk1b26 |
T |
A |
7: 44,012,727 (GRCm38) |
F3Y |
probably damaging |
Het |
| Lars1 |
A |
G |
18: 42,251,363 (GRCm38) |
V50A |
probably benign |
Het |
| Lax1 |
G |
T |
1: 133,680,066 (GRCm38) |
H312Q |
probably benign |
Het |
| Lctl |
T |
C |
9: 64,122,314 (GRCm38) |
|
probably benign |
Het |
| Lrp2 |
G |
A |
2: 69,460,337 (GRCm38) |
|
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,456,858 (GRCm38) |
D3745V |
probably damaging |
Het |
| Lvrn |
A |
T |
18: 46,850,466 (GRCm38) |
H92L |
probably benign |
Het |
| Marchf1 |
A |
G |
8: 66,418,973 (GRCm38) |
T385A |
probably damaging |
Het |
| Marf1 |
C |
T |
16: 14,142,534 (GRCm38) |
A549T |
probably damaging |
Het |
| Mbd5 |
T |
C |
2: 49,272,416 (GRCm38) |
V970A |
possibly damaging |
Het |
| Mccc1 |
A |
G |
3: 35,963,570 (GRCm38) |
|
probably benign |
Het |
| Mpp4 |
A |
T |
1: 59,143,829 (GRCm38) |
|
probably benign |
Het |
| Mrnip |
G |
A |
11: 50,199,920 (GRCm38) |
A304T |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,865,082 (GRCm38) |
S3922P |
possibly damaging |
Het |
| Myh3 |
T |
A |
11: 67,096,507 (GRCm38) |
|
probably benign |
Het |
| Nbea |
A |
T |
3: 56,037,277 (GRCm38) |
H555Q |
probably damaging |
Het |
| Niban3 |
T |
A |
8: 71,602,499 (GRCm38) |
|
probably benign |
Het |
| Nlrp9c |
A |
T |
7: 26,371,476 (GRCm38) |
|
probably benign |
Het |
| Nmur1 |
A |
T |
1: 86,387,678 (GRCm38) |
V178E |
probably damaging |
Het |
| Nod2 |
T |
G |
8: 88,663,778 (GRCm38) |
S238A |
probably benign |
Het |
| Ogfod1 |
A |
T |
8: 94,063,023 (GRCm38) |
T451S |
probably damaging |
Het |
| Or1e17 |
T |
C |
11: 73,941,109 (GRCm38) |
F288L |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 107,148,187 (GRCm38) |
Y290* |
probably null |
Het |
| Or2z8 |
C |
T |
8: 72,058,400 (GRCm38) |
T240M |
probably damaging |
Het |
| Or8b8 |
G |
A |
9: 37,897,842 (GRCm38) |
G146D |
probably benign |
Het |
| Pcdh20 |
T |
C |
14: 88,468,668 (GRCm38) |
I399V |
probably benign |
Het |
| Pdlim1 |
G |
T |
19: 40,243,573 (GRCm38) |
H120Q |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,419,081 (GRCm38) |
V798A |
probably damaging |
Het |
| Polr2c |
A |
G |
8: 94,857,775 (GRCm38) |
I39V |
possibly damaging |
Het |
| Ppfia2 |
C |
A |
10: 106,830,714 (GRCm38) |
|
probably benign |
Het |
| Ppp1r3a |
A |
T |
6: 14,719,697 (GRCm38) |
I406N |
probably benign |
Het |
| Psg28 |
A |
T |
7: 18,426,173 (GRCm38) |
M366K |
probably benign |
Het |
| Rad54b |
T |
C |
4: 11,601,702 (GRCm38) |
I419T |
probably damaging |
Het |
| Rnf43 |
A |
G |
11: 87,731,282 (GRCm38) |
Q403R |
possibly damaging |
Het |
| Sema6a |
G |
A |
18: 47,290,045 (GRCm38) |
|
probably null |
Het |
| Slc28a3 |
A |
G |
13: 58,569,415 (GRCm38) |
|
probably benign |
Het |
| Smad2 |
A |
T |
18: 76,289,037 (GRCm38) |
|
probably null |
Het |
| Smad4 |
G |
A |
18: 73,658,649 (GRCm38) |
P274S |
probably benign |
Het |
| Soat2 |
C |
A |
15: 102,158,753 (GRCm38) |
R320S |
possibly damaging |
Het |
| Spata33 |
C |
T |
8: 123,221,887 (GRCm38) |
A57V |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 31,143,418 (GRCm38) |
L1814P |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,947,144 (GRCm38) |
K680R |
probably benign |
Het |
| Stil |
A |
G |
4: 115,041,172 (GRCm38) |
|
probably null |
Het |
| Sympk |
T |
A |
7: 19,046,849 (GRCm38) |
L759H |
probably benign |
Het |
| Tet1 |
A |
T |
10: 62,814,546 (GRCm38) |
|
probably null |
Het |
| Tfpi2 |
A |
T |
6: 3,965,460 (GRCm38) |
N117K |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,416,661 (GRCm38) |
Y766C |
probably damaging |
Het |
| Trpt1 |
C |
A |
19: 6,997,930 (GRCm38) |
|
probably null |
Het |
| Tshz1 |
A |
G |
18: 84,016,049 (GRCm38) |
F78S |
possibly damaging |
Het |
| Ttc1 |
T |
C |
11: 43,738,808 (GRCm38) |
D177G |
probably damaging |
Het |
| Ttc13 |
T |
A |
8: 124,674,401 (GRCm38) |
Y741F |
probably damaging |
Het |
| Ulk3 |
C |
T |
9: 57,594,832 (GRCm38) |
S462L |
probably benign |
Het |
| Utrn |
C |
T |
10: 12,525,333 (GRCm38) |
|
probably benign |
Het |
| V1rd19 |
A |
C |
7: 24,003,585 (GRCm38) |
T159P |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,011,486 (GRCm38) |
V515A |
possibly damaging |
Het |
| Vmn1r85 |
A |
G |
7: 13,084,588 (GRCm38) |
Y210H |
probably benign |
Het |
| Vmn2r89 |
A |
G |
14: 51,455,978 (GRCm38) |
T262A |
probably damaging |
Het |
| Vps53 |
G |
A |
11: 76,121,579 (GRCm38) |
T209I |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 62,925,133 (GRCm38) |
F95L |
possibly damaging |
Het |
| Wwp1 |
G |
T |
4: 19,627,911 (GRCm38) |
S694Y |
probably damaging |
Het |
| Zbtb8b |
T |
A |
4: 129,432,670 (GRCm38) |
D201V |
probably damaging |
Het |
| Zmym5 |
A |
C |
14: 56,804,451 (GRCm38) |
N123K |
possibly damaging |
Het |
|
| Other mutations in Smchd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Smchd1
|
APN |
17 |
71,465,673 (GRCm38) |
splice site |
probably benign |
|
|
IGL00529:Smchd1
|
APN |
17 |
71,394,799 (GRCm38) |
missense |
probably benign |
0.30 |
|
IGL00642:Smchd1
|
APN |
17 |
71,390,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00821:Smchd1
|
APN |
17 |
71,398,623 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL01330:Smchd1
|
APN |
17 |
71,436,788 (GRCm38) |
missense |
probably benign |
|
|
IGL01432:Smchd1
|
APN |
17 |
71,431,290 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01473:Smchd1
|
APN |
17 |
71,389,750 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01705:Smchd1
|
APN |
17 |
71,381,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01787:Smchd1
|
APN |
17 |
71,391,418 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01814:Smchd1
|
APN |
17 |
71,378,187 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01976:Smchd1
|
APN |
17 |
71,394,725 (GRCm38) |
nonsense |
probably null |
|
|
IGL01995:Smchd1
|
APN |
17 |
71,444,020 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02090:Smchd1
|
APN |
17 |
71,431,253 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
IGL02302:Smchd1
|
APN |
17 |
71,358,133 (GRCm38) |
splice site |
probably benign |
|
|
IGL02309:Smchd1
|
APN |
17 |
71,443,903 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL02391:Smchd1
|
APN |
17 |
71,431,259 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL02515:Smchd1
|
APN |
17 |
71,440,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02644:Smchd1
|
APN |
17 |
71,360,021 (GRCm38) |
splice site |
probably benign |
|
|
IGL03081:Smchd1
|
APN |
17 |
71,360,191 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03212:Smchd1
|
APN |
17 |
71,443,891 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03236:Smchd1
|
APN |
17 |
71,391,430 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03297:Smchd1
|
APN |
17 |
71,349,700 (GRCm38) |
missense |
probably benign |
0.01 |
|
Dry_tortugas
|
UTSW |
17 |
71,440,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0049:Smchd1
|
UTSW |
17 |
71,431,236 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0254:Smchd1
|
UTSW |
17 |
71,411,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0403:Smchd1
|
UTSW |
17 |
71,394,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0499:Smchd1
|
UTSW |
17 |
71,387,088 (GRCm38) |
missense |
probably benign |
|
|
R0520:Smchd1
|
UTSW |
17 |
71,429,543 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0616:Smchd1
|
UTSW |
17 |
71,379,574 (GRCm38) |
missense |
probably benign |
0.39 |
|
R1120:Smchd1
|
UTSW |
17 |
71,358,146 (GRCm38) |
nonsense |
probably null |
|
|
R1469:Smchd1
|
UTSW |
17 |
71,349,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Smchd1
|
UTSW |
17 |
71,349,730 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1473:Smchd1
|
UTSW |
17 |
71,361,837 (GRCm38) |
splice site |
probably benign |
|
|
R1484:Smchd1
|
UTSW |
17 |
71,378,257 (GRCm38) |
missense |
probably benign |
0.31 |
|
R1501:Smchd1
|
UTSW |
17 |
71,365,094 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R1718:Smchd1
|
UTSW |
17 |
71,448,833 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R1765:Smchd1
|
UTSW |
17 |
71,400,201 (GRCm38) |
splice site |
probably benign |
|
|
R1766:Smchd1
|
UTSW |
17 |
71,391,379 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1803:Smchd1
|
UTSW |
17 |
71,387,006 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1829:Smchd1
|
UTSW |
17 |
71,370,337 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1850:Smchd1
|
UTSW |
17 |
71,389,771 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1917:Smchd1
|
UTSW |
17 |
71,407,237 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1918:Smchd1
|
UTSW |
17 |
71,407,237 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1936:Smchd1
|
UTSW |
17 |
71,463,791 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2024:Smchd1
|
UTSW |
17 |
71,370,928 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2147:Smchd1
|
UTSW |
17 |
71,398,588 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2180:Smchd1
|
UTSW |
17 |
71,463,799 (GRCm38) |
missense |
probably benign |
0.23 |
|
R2398:Smchd1
|
UTSW |
17 |
71,426,436 (GRCm38) |
splice site |
probably benign |
|
|
R2398:Smchd1
|
UTSW |
17 |
71,360,141 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2935:Smchd1
|
UTSW |
17 |
71,411,905 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3000:Smchd1
|
UTSW |
17 |
71,363,038 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3021:Smchd1
|
UTSW |
17 |
71,387,098 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R3808:Smchd1
|
UTSW |
17 |
71,429,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4323:Smchd1
|
UTSW |
17 |
71,428,275 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4486:Smchd1
|
UTSW |
17 |
71,407,235 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4487:Smchd1
|
UTSW |
17 |
71,407,235 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4488:Smchd1
|
UTSW |
17 |
71,407,235 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4489:Smchd1
|
UTSW |
17 |
71,407,235 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4723:Smchd1
|
UTSW |
17 |
71,436,747 (GRCm38) |
nonsense |
probably null |
|
|
R4751:Smchd1
|
UTSW |
17 |
71,391,468 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4798:Smchd1
|
UTSW |
17 |
71,360,053 (GRCm38) |
nonsense |
probably null |
|
|
R4814:Smchd1
|
UTSW |
17 |
71,411,768 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4882:Smchd1
|
UTSW |
17 |
71,358,239 (GRCm38) |
intron |
probably benign |
|
|
R5088:Smchd1
|
UTSW |
17 |
71,431,348 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5589:Smchd1
|
UTSW |
17 |
71,440,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5618:Smchd1
|
UTSW |
17 |
71,455,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5839:Smchd1
|
UTSW |
17 |
71,394,862 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5994:Smchd1
|
UTSW |
17 |
71,365,409 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6009:Smchd1
|
UTSW |
17 |
71,440,956 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6042:Smchd1
|
UTSW |
17 |
71,377,057 (GRCm38) |
nonsense |
probably null |
|
|
R6082:Smchd1
|
UTSW |
17 |
71,349,719 (GRCm38) |
missense |
probably benign |
0.09 |
|
R6126:Smchd1
|
UTSW |
17 |
71,370,285 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6294:Smchd1
|
UTSW |
17 |
71,370,927 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6788:Smchd1
|
UTSW |
17 |
71,475,101 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6853:Smchd1
|
UTSW |
17 |
71,436,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6875:Smchd1
|
UTSW |
17 |
71,353,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7026:Smchd1
|
UTSW |
17 |
71,349,667 (GRCm38) |
missense |
probably benign |
|
|
R7045:Smchd1
|
UTSW |
17 |
71,415,044 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7068:Smchd1
|
UTSW |
17 |
71,387,092 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7085:Smchd1
|
UTSW |
17 |
71,365,219 (GRCm38) |
splice site |
probably null |
|
|
R7089:Smchd1
|
UTSW |
17 |
71,361,960 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7145:Smchd1
|
UTSW |
17 |
71,378,207 (GRCm38) |
missense |
probably benign |
|
|
R7158:Smchd1
|
UTSW |
17 |
71,400,150 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7180:Smchd1
|
UTSW |
17 |
71,394,823 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7183:Smchd1
|
UTSW |
17 |
71,353,516 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7214:Smchd1
|
UTSW |
17 |
71,345,364 (GRCm38) |
missense |
probably benign |
0.15 |
|
R7414:Smchd1
|
UTSW |
17 |
71,475,079 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7512:Smchd1
|
UTSW |
17 |
71,381,369 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7631:Smchd1
|
UTSW |
17 |
71,398,689 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7641:Smchd1
|
UTSW |
17 |
71,390,479 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7709:Smchd1
|
UTSW |
17 |
71,358,198 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7768:Smchd1
|
UTSW |
17 |
71,411,911 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7789:Smchd1
|
UTSW |
17 |
71,475,301 (GRCm38) |
start gained |
probably benign |
|
|
R7898:Smchd1
|
UTSW |
17 |
71,377,818 (GRCm38) |
splice site |
probably null |
|
|
R7965:Smchd1
|
UTSW |
17 |
71,455,626 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8177:Smchd1
|
UTSW |
17 |
71,390,453 (GRCm38) |
missense |
probably benign |
0.28 |
|
R8359:Smchd1
|
UTSW |
17 |
71,431,243 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8370:Smchd1
|
UTSW |
17 |
71,394,913 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8426:Smchd1
|
UTSW |
17 |
71,448,603 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8443:Smchd1
|
UTSW |
17 |
71,407,249 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8948:Smchd1
|
UTSW |
17 |
71,436,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8954:Smchd1
|
UTSW |
17 |
71,448,757 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9041:Smchd1
|
UTSW |
17 |
71,394,715 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9054:Smchd1
|
UTSW |
17 |
71,363,022 (GRCm38) |
nonsense |
probably null |
|
|
R9141:Smchd1
|
UTSW |
17 |
71,365,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9169:Smchd1
|
UTSW |
17 |
71,415,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9231:Smchd1
|
UTSW |
17 |
71,365,089 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9368:Smchd1
|
UTSW |
17 |
71,387,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9374:Smchd1
|
UTSW |
17 |
71,411,848 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9416:Smchd1
|
UTSW |
17 |
71,394,796 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9426:Smchd1
|
UTSW |
17 |
71,365,130 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9491:Smchd1
|
UTSW |
17 |
71,360,025 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9511:Smchd1
|
UTSW |
17 |
71,443,904 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R9591:Smchd1
|
UTSW |
17 |
71,394,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9593:Smchd1
|
UTSW |
17 |
71,394,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Smchd1
|
UTSW |
17 |
71,361,841 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTGTATTCACGAGCACAGGC -3'
(R):5'- TCCTACTCCGTTATTGGTTCACTTCAGA -3'
Sequencing Primer
(F):5'- GCCACCCCATATACATAGTTAAATTG -3'
(R):5'- GTCAGAATTGAAATGTTAAGCTGC -3'
|
| Posted On |
2014-05-08 |
Incidental Mutation