Incidental Mutation 'R6889:Smc1b'
ID |
537130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
044983-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R6889 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 84951960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 1157
(L1157Q)
|
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: L1157Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: L1157Q
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310002L09Rik |
A |
T |
4: 73,861,290 (GRCm39) |
D103E |
probably benign |
Het |
Abcc3 |
A |
T |
11: 94,266,381 (GRCm39) |
S70T |
possibly damaging |
Het |
Atp6v0a1 |
A |
G |
11: 100,920,009 (GRCm39) |
Y214C |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,878,963 (GRCm39) |
|
probably null |
Het |
Cacnb2 |
T |
A |
2: 14,990,826 (GRCm39) |
V636E |
possibly damaging |
Het |
Cd8a |
A |
C |
6: 71,351,546 (GRCm39) |
T169P |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,224,495 (GRCm39) |
V68I |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,454,912 (GRCm39) |
S319R |
probably damaging |
Het |
Dnaaf10 |
G |
A |
11: 17,172,309 (GRCm39) |
V133M |
probably damaging |
Het |
Eea1 |
G |
T |
10: 95,873,340 (GRCm39) |
C1134F |
probably benign |
Het |
Ehmt2 |
T |
G |
17: 35,131,748 (GRCm39) |
F1192V |
probably damaging |
Het |
Emc1 |
T |
C |
4: 139,092,661 (GRCm39) |
F531L |
probably damaging |
Het |
Eme1 |
G |
A |
11: 94,541,303 (GRCm39) |
T173I |
probably benign |
Het |
Gli2 |
A |
T |
1: 118,772,146 (GRCm39) |
C520S |
probably damaging |
Het |
Gm43302 |
T |
C |
5: 105,428,004 (GRCm39) |
K186E |
probably benign |
Het |
Gpr108 |
A |
T |
17: 57,543,990 (GRCm39) |
N405K |
probably damaging |
Het |
Hmgcl |
C |
A |
4: 135,682,953 (GRCm39) |
T135N |
probably benign |
Het |
Hydin |
G |
A |
8: 111,259,488 (GRCm39) |
D2487N |
possibly damaging |
Het |
Igfl3 |
G |
T |
7: 17,913,725 (GRCm39) |
R25L |
probably benign |
Het |
Igsf10 |
A |
C |
3: 59,239,354 (GRCm39) |
S276A |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,107,045 (GRCm39) |
S211P |
probably damaging |
Het |
Kctd7 |
A |
T |
5: 130,181,342 (GRCm39) |
Q255L |
probably benign |
Het |
Lrig1 |
A |
G |
6: 94,602,044 (GRCm39) |
Y270H |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myh15 |
A |
G |
16: 48,973,474 (GRCm39) |
N1248S |
possibly damaging |
Het |
Nod1 |
A |
G |
6: 54,921,094 (GRCm39) |
F408S |
probably benign |
Het |
Nrp1 |
T |
C |
8: 129,219,538 (GRCm39) |
F652S |
probably damaging |
Het |
Opa1 |
G |
T |
16: 29,439,686 (GRCm39) |
R792L |
probably benign |
Het |
Or10ak14 |
G |
A |
4: 118,611,504 (GRCm39) |
T79I |
probably damaging |
Het |
Or51t4 |
A |
T |
7: 102,597,975 (GRCm39) |
H91L |
possibly damaging |
Het |
Or5p63 |
A |
T |
7: 107,811,125 (GRCm39) |
F204I |
probably benign |
Het |
Or6c74 |
T |
C |
10: 129,870,401 (GRCm39) |
M302T |
probably benign |
Het |
Pcdha6 |
G |
T |
18: 37,101,396 (GRCm39) |
L196F |
probably damaging |
Het |
Pdia2 |
A |
T |
17: 26,415,944 (GRCm39) |
Y347* |
probably null |
Het |
Pdpr |
G |
T |
8: 111,851,245 (GRCm39) |
|
probably null |
Het |
Pigt |
T |
A |
2: 164,349,251 (GRCm39) |
L518Q |
probably damaging |
Het |
Ppfibp2 |
A |
C |
7: 107,337,188 (GRCm39) |
D591A |
possibly damaging |
Het |
Prrg2 |
G |
A |
7: 44,709,413 (GRCm39) |
T97M |
possibly damaging |
Het |
Qars1 |
A |
G |
9: 108,390,382 (GRCm39) |
T428A |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,076,541 (GRCm39) |
F202L |
probably damaging |
Het |
Rars1 |
A |
T |
11: 35,699,313 (GRCm39) |
M660K |
probably damaging |
Het |
Rsf1 |
GCGGCGGCG |
GCGGCGGCGTCGGCGGCG |
7: 97,229,132 (GRCm39) |
|
probably benign |
Het |
Slc16a6 |
A |
C |
11: 109,345,866 (GRCm39) |
F382V |
probably damaging |
Het |
Slc30a7 |
T |
C |
3: 115,747,802 (GRCm39) |
T330A |
probably damaging |
Het |
Snx4 |
G |
T |
16: 33,071,840 (GRCm39) |
A4S |
possibly damaging |
Het |
Sv2b |
A |
C |
7: 74,775,515 (GRCm39) |
|
probably null |
Het |
Syt9 |
A |
T |
7: 107,024,493 (GRCm39) |
I129L |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,603,834 (GRCm39) |
E198G |
probably damaging |
Het |
Ubr3 |
A |
T |
2: 69,774,644 (GRCm39) |
D488V |
possibly damaging |
Het |
Ush2a |
T |
A |
1: 188,530,068 (GRCm39) |
C3286S |
probably damaging |
Het |
Vill |
A |
G |
9: 118,894,950 (GRCm39) |
D56G |
possibly damaging |
Het |
Vmn1r41 |
A |
T |
6: 89,724,352 (GRCm39) |
I298F |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,024,688 (GRCm39) |
V631D |
probably damaging |
Het |
Vmn2r32 |
A |
G |
7: 7,475,573 (GRCm39) |
S437P |
possibly damaging |
Het |
Vmn2r53 |
A |
G |
7: 12,335,069 (GRCm39) |
V197A |
probably benign |
Het |
Wasf1 |
A |
T |
10: 40,796,365 (GRCm39) |
I32F |
probably damaging |
Het |
Wasf2 |
G |
T |
4: 132,922,041 (GRCm39) |
A387S |
unknown |
Het |
Zbtb14 |
G |
A |
17: 69,694,674 (GRCm39) |
C124Y |
probably damaging |
Het |
Zfp462 |
G |
T |
4: 55,007,671 (GRCm39) |
A37S |
probably damaging |
Het |
Zfp532 |
A |
G |
18: 65,820,061 (GRCm39) |
E882G |
possibly 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 |
|
R5817:Smc1b
|
UTSW |
15 |
84,951,984 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- TGGTGGCACAAGACTTCTCTC -3'
(R):5'- TGGTAGCACAAGACTTCTCTC -3'
Sequencing Primer
(F):5'- GGTCGACCACAGAGTGCTTTAATTC -3'
(R):5'- TAGCACAAGACTTCTCTCAGAGGTTC -3'
|
Posted On |
2018-10-18 |