Incidental Mutation 'R5817:Smc1b'
| ID |
449129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| MMRRC Submission |
043397-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.704)
|
| Stock # |
R5817 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84951984 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1149
(V1149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000023069]
[ENSMUST00000227591]
[ENSMUST00000229203]
|
| AlphaFold |
Q920F6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: V1149A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: V1149A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
7 |
361 |
2e-10 |
PFAM |
|
Pfam:AAA_21
|
27 |
372 |
7.2e-9 |
PFAM |
|
low complexity region
|
422 |
437 |
N/A |
INTRINSIC |
|
SMC_hinge
|
513 |
629 |
1.5e-23 |
SMART |
|
PDB:1W1W|D
|
1046 |
1218 |
3e-42 |
PDB |
|
Blast:AAA
|
1063 |
1217 |
5e-25 |
BLAST |
|
SCOP:d1e69a_
|
1114 |
1202 |
3e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023069
|
| SMART Domains |
Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2_2
|
142 |
286 |
7.8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229203
|
| Meta Mutation Damage Score |
0.3053 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (71/71) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice display male and female infertility, abnormal male and female meiosis, and arrest of spematogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
G |
4: 144,349,497 (GRCm39) |
I251M |
probably benign |
Het |
| Abcf3 |
T |
C |
16: 20,367,833 (GRCm39) |
V63A |
possibly damaging |
Het |
| Agpat4 |
C |
T |
17: 12,434,097 (GRCm39) |
|
probably benign |
Het |
| Ahcyl2 |
G |
A |
6: 29,890,720 (GRCm39) |
V292M |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,740,437 (GRCm39) |
F406I |
probably damaging |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Arhgef5 |
G |
A |
6: 43,252,038 (GRCm39) |
D930N |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,869,760 (GRCm39) |
R887Q |
probably damaging |
Het |
| Ceacam18 |
A |
G |
7: 43,291,265 (GRCm39) |
T236A |
probably benign |
Het |
| Chst15 |
A |
T |
7: 131,870,873 (GRCm39) |
Y221N |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,870,876 (GRCm39) |
L220F |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,446,486 (GRCm39) |
T784I |
probably benign |
Het |
| D630003M21Rik |
A |
G |
2: 158,038,413 (GRCm39) |
L1011P |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 6,996,905 (GRCm39) |
D3894V |
probably damaging |
Het |
| Eif1ad19 |
G |
T |
12: 87,740,201 (GRCm39) |
D119E |
probably benign |
Het |
| Fam13b |
T |
C |
18: 34,590,850 (GRCm39) |
M443V |
possibly damaging |
Het |
| Fam20a |
T |
A |
11: 109,564,244 (GRCm39) |
Q503L |
possibly damaging |
Het |
| Ftdc2 |
T |
C |
16: 58,457,156 (GRCm39) |
I89V |
probably benign |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5454 |
T |
A |
13: 103,493,140 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5581 |
A |
G |
6: 131,144,132 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6619 |
A |
G |
6: 131,463,400 (GRCm39) |
I6V |
unknown |
Het |
| Gmcl1 |
A |
G |
6: 86,691,230 (GRCm39) |
M255T |
probably damaging |
Het |
| Golm2 |
T |
A |
2: 121,736,525 (GRCm39) |
S231T |
probably benign |
Het |
| Gprc5c |
T |
A |
11: 114,754,450 (GRCm39) |
C42* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,613,275 (GRCm39) |
E1384V |
possibly damaging |
Het |
| Il6 |
A |
G |
5: 30,223,006 (GRCm39) |
I91V |
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,760,244 (GRCm39) |
S1005T |
unknown |
Het |
| Map1a |
A |
T |
2: 121,129,391 (GRCm39) |
H143L |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,922,866 (GRCm39) |
T624S |
probably benign |
Het |
| Msh3 |
A |
T |
13: 92,422,508 (GRCm39) |
N549K |
possibly damaging |
Het |
| Ncr1 |
T |
A |
7: 4,343,894 (GRCm39) |
I164N |
possibly damaging |
Het |
| Or10ak11 |
T |
G |
4: 118,687,296 (GRCm39) |
T115P |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,115 (GRCm39) |
M292K |
possibly damaging |
Het |
| Or52m1 |
A |
G |
7: 102,289,585 (GRCm39) |
N44S |
probably damaging |
Het |
| Or8d2b |
A |
G |
9: 38,788,673 (GRCm39) |
D67G |
probably damaging |
Het |
| Palmd |
T |
C |
3: 116,712,272 (GRCm39) |
I541M |
probably benign |
Het |
| Pcsk7 |
A |
T |
9: 45,837,331 (GRCm39) |
M552L |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,879,154 (GRCm39) |
E626G |
possibly damaging |
Het |
| Pole |
G |
A |
5: 110,460,838 (GRCm39) |
D1176N |
probably damaging |
Het |
| Polr2f |
T |
C |
15: 79,035,869 (GRCm39) |
I110T |
probably damaging |
Het |
| Pomt1 |
A |
T |
2: 32,138,691 (GRCm39) |
I436F |
probably damaging |
Het |
| Prag1 |
A |
C |
8: 36,570,857 (GRCm39) |
Q480P |
probably damaging |
Het |
| Qars1 |
C |
T |
9: 108,387,441 (GRCm39) |
|
probably benign |
Het |
| Ralgapa2 |
G |
A |
2: 146,175,406 (GRCm39) |
S1797L |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,366,039 (GRCm39) |
T832A |
probably damaging |
Het |
| Rnf169 |
A |
G |
7: 99,574,976 (GRCm39) |
S540P |
probably benign |
Het |
| Serpini1 |
T |
A |
3: 75,520,631 (GRCm39) |
M76K |
probably benign |
Het |
| Shq1 |
A |
G |
6: 100,550,681 (GRCm39) |
L419S |
probably damaging |
Het |
| Slc25a17 |
G |
A |
15: 81,211,261 (GRCm39) |
T225M |
probably damaging |
Het |
| Slc6a5 |
C |
A |
7: 49,606,239 (GRCm39) |
L716I |
probably benign |
Het |
| Trappc1 |
A |
T |
11: 69,215,060 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Trpm2 |
C |
A |
10: 77,801,814 (GRCm39) |
G84W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,573,010 (GRCm39) |
T24215M |
probably damaging |
Het |
| Ubn2 |
C |
A |
6: 38,456,088 (GRCm39) |
T337K |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,196,158 (GRCm39) |
K1265E |
probably damaging |
Het |
| Vmn1r214 |
T |
G |
13: 23,219,491 (GRCm39) |
I328M |
probably damaging |
Het |
| Xcr1 |
C |
T |
9: 123,684,922 (GRCm39) |
C280Y |
possibly damaging |
Het |
| Zc3h13 |
A |
G |
14: 75,565,572 (GRCm39) |
E895G |
probably damaging |
Het |
|
| Other mutations in Smc1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00736:Smc1b
|
APN |
15 |
85,013,901 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01293:Smc1b
|
APN |
15 |
85,016,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01656:Smc1b
|
APN |
15 |
84,998,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01807:Smc1b
|
APN |
15 |
84,980,946 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02094:Smc1b
|
APN |
15 |
84,982,092 (GRCm39) |
splice site |
probably benign |
|
|
IGL02121:Smc1b
|
APN |
15 |
84,982,186 (GRCm39) |
missense |
probably benign |
|
|
IGL02631:Smc1b
|
APN |
15 |
84,991,204 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02678:Smc1b
|
APN |
15 |
84,949,201 (GRCm39) |
nonsense |
probably null |
|
|
IGL03197:Smc1b
|
APN |
15 |
84,955,064 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03214:Smc1b
|
APN |
15 |
84,982,147 (GRCm39) |
nonsense |
probably null |
|
|
IGL03218:Smc1b
|
APN |
15 |
84,973,914 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03232:Smc1b
|
APN |
15 |
85,013,921 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
adamantine
|
UTSW |
15 |
85,005,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
unbreakable
|
UTSW |
15 |
84,980,859 (GRCm39) |
missense |
probably benign |
|
|
E0370:Smc1b
|
UTSW |
15 |
85,011,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Smc1b
|
UTSW |
15 |
84,953,852 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0092:Smc1b
|
UTSW |
15 |
84,951,925 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Smc1b
|
UTSW |
15 |
84,955,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0106:Smc1b
|
UTSW |
15 |
84,955,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Smc1b
|
UTSW |
15 |
85,007,960 (GRCm39) |
missense |
probably benign |
|
|
R0390:Smc1b
|
UTSW |
15 |
84,950,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Smc1b
|
UTSW |
15 |
84,996,874 (GRCm39) |
splice site |
probably benign |
|
|
R0685:Smc1b
|
UTSW |
15 |
84,955,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1109:Smc1b
|
UTSW |
15 |
84,997,016 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1392:Smc1b
|
UTSW |
15 |
84,991,271 (GRCm39) |
splice site |
probably benign |
|
|
R1509:Smc1b
|
UTSW |
15 |
84,970,335 (GRCm39) |
missense |
probably benign |
|
|
R1804:Smc1b
|
UTSW |
15 |
85,011,991 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1879:Smc1b
|
UTSW |
15 |
84,976,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2086:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
|
R2143:Smc1b
|
UTSW |
15 |
85,008,003 (GRCm39) |
missense |
probably benign |
|
|
R2158:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
|
R2174:Smc1b
|
UTSW |
15 |
85,006,052 (GRCm39) |
splice site |
probably benign |
|
|
R2471:Smc1b
|
UTSW |
15 |
84,976,218 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3689:Smc1b
|
UTSW |
15 |
85,001,464 (GRCm39) |
intron |
probably benign |
|
|
R3690:Smc1b
|
UTSW |
15 |
85,001,464 (GRCm39) |
intron |
probably benign |
|
|
R4178:Smc1b
|
UTSW |
15 |
85,004,848 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4420:Smc1b
|
UTSW |
15 |
84,997,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Smc1b
|
UTSW |
15 |
84,950,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4919:Smc1b
|
UTSW |
15 |
85,001,305 (GRCm39) |
intron |
probably benign |
|
|
R5114:Smc1b
|
UTSW |
15 |
84,949,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Smc1b
|
UTSW |
15 |
84,955,066 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5476:Smc1b
|
UTSW |
15 |
84,970,352 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5593:Smc1b
|
UTSW |
15 |
85,005,842 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5690:Smc1b
|
UTSW |
15 |
84,996,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5719:Smc1b
|
UTSW |
15 |
84,980,859 (GRCm39) |
missense |
probably benign |
|
|
R5834:Smc1b
|
UTSW |
15 |
84,973,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Smc1b
|
UTSW |
15 |
84,970,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Smc1b
|
UTSW |
15 |
84,950,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6032:Smc1b
|
UTSW |
15 |
84,950,430 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6049:Smc1b
|
UTSW |
15 |
85,005,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6306:Smc1b
|
UTSW |
15 |
85,011,824 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6392:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6426:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6435:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6436:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6437:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6508:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6512:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6703:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6737:Smc1b
|
UTSW |
15 |
84,976,232 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6775:Smc1b
|
UTSW |
15 |
84,973,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6889:Smc1b
|
UTSW |
15 |
84,951,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Smc1b
|
UTSW |
15 |
84,991,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7124:Smc1b
|
UTSW |
15 |
84,955,798 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7400:Smc1b
|
UTSW |
15 |
84,953,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Smc1b
|
UTSW |
15 |
84,981,743 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7610:Smc1b
|
UTSW |
15 |
84,955,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7873:Smc1b
|
UTSW |
15 |
84,994,851 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7890:Smc1b
|
UTSW |
15 |
84,950,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8004:Smc1b
|
UTSW |
15 |
84,981,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8698:Smc1b
|
UTSW |
15 |
84,997,047 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8826:Smc1b
|
UTSW |
15 |
84,950,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8835:Smc1b
|
UTSW |
15 |
85,013,949 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8925:Smc1b
|
UTSW |
15 |
84,991,273 (GRCm39) |
splice site |
probably null |
|
|
R9059:Smc1b
|
UTSW |
15 |
85,004,875 (GRCm39) |
nonsense |
probably null |
|
|
R9149:Smc1b
|
UTSW |
15 |
84,950,431 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9241:Smc1b
|
UTSW |
15 |
84,976,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9245:Smc1b
|
UTSW |
15 |
85,004,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9301:Smc1b
|
UTSW |
15 |
85,011,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9384:Smc1b
|
UTSW |
15 |
84,950,455 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9750:Smc1b
|
UTSW |
15 |
85,016,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Smc1b
|
UTSW |
15 |
85,016,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACAAGACTTCTCTCAGG -3'
(R):5'- CATAAGCTGGGCATGGTAGC -3'
Sequencing Primer
(F):5'- GGTCGACCACAGAGTGCTTTAATTC -3'
(R):5'- TGGTAGCACAAGACTTCTCTCAGAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation