Incidental Mutation 'R6306:Smc1b'
ID |
509703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
044468-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R6306 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85011824 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 154
(F154I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023067]
[ENSMUST00000023068]
[ENSMUST00000229238]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023067
|
SMART Domains |
Protein: ENSMUSP00000023067 Gene: ENSMUSG00000022431
Domain | Start | End | E-Value | Type |
Pfam:RIB43A
|
3 |
377 |
9.7e-147 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: F154I
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: F154I
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: ENSMUST00000229238
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (88/88) |
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
G |
A |
9: 90,060,331 (GRCm39) |
|
probably null |
Het |
Adora2a |
T |
A |
10: 75,169,238 (GRCm39) |
V234E |
probably damaging |
Het |
Alpk1 |
T |
C |
3: 127,479,965 (GRCm39) |
D188G |
probably damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,392,013 (GRCm39) |
F1886L |
probably benign |
Het |
Anks1 |
T |
G |
17: 28,269,613 (GRCm39) |
L769R |
probably damaging |
Het |
Apol10a |
A |
G |
15: 77,373,161 (GRCm39) |
I266V |
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,121,896 (GRCm39) |
Y556C |
probably damaging |
Het |
Brd8 |
T |
A |
18: 34,744,304 (GRCm39) |
T175S |
probably damaging |
Het |
Camsap2 |
C |
T |
1: 136,208,937 (GRCm39) |
V852I |
probably benign |
Het |
Cd55b |
G |
T |
1: 130,341,803 (GRCm39) |
P278Q |
probably damaging |
Het |
Cep290 |
T |
A |
10: 100,367,028 (GRCm39) |
S1126R |
possibly damaging |
Het |
Cfh |
C |
T |
1: 140,030,155 (GRCm39) |
C906Y |
probably damaging |
Het |
Chst13 |
C |
A |
6: 90,286,260 (GRCm39) |
R234L |
probably damaging |
Het |
Clcn7 |
T |
C |
17: 25,376,502 (GRCm39) |
F611L |
probably benign |
Het |
Cntnap1 |
A |
G |
11: 101,075,441 (GRCm39) |
D873G |
probably damaging |
Het |
Cntnap5b |
T |
C |
1: 100,091,871 (GRCm39) |
I518T |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 8,014,969 (GRCm39) |
E812G |
probably damaging |
Het |
Cpa1 |
T |
C |
6: 30,640,953 (GRCm39) |
I148T |
probably damaging |
Het |
Cyp11a1 |
A |
G |
9: 57,932,383 (GRCm39) |
N232S |
probably benign |
Het |
Dhrs13 |
A |
G |
11: 77,923,519 (GRCm39) |
D79G |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,868,712 (GRCm39) |
E1236G |
possibly damaging |
Het |
Dnah1 |
A |
C |
14: 31,026,544 (GRCm39) |
L778R |
probably damaging |
Het |
Dnah14 |
CTGTG |
CTG |
1: 181,412,589 (GRCm39) |
|
probably null |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
Dock9 |
A |
T |
14: 121,799,492 (GRCm39) |
I1729N |
probably damaging |
Het |
Dysf |
T |
C |
6: 84,114,248 (GRCm39) |
V1192A |
possibly damaging |
Het |
Enpp2 |
A |
G |
15: 54,762,742 (GRCm39) |
S169P |
probably damaging |
Het |
Fam114a2 |
T |
G |
11: 57,404,972 (GRCm39) |
R43S |
probably damaging |
Het |
Fam13a |
T |
C |
6: 58,917,239 (GRCm39) |
T546A |
probably benign |
Het |
Fos |
A |
T |
12: 85,522,460 (GRCm39) |
D163V |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,912,805 (GRCm39) |
Y3370H |
probably damaging |
Het |
Fshr |
T |
C |
17: 89,507,961 (GRCm39) |
N27S |
probably null |
Het |
Galnt6 |
A |
G |
15: 100,591,305 (GRCm39) |
S600P |
possibly damaging |
Het |
Gars1 |
T |
A |
6: 55,032,809 (GRCm39) |
N260K |
probably damaging |
Het |
Gpr158 |
C |
G |
2: 21,820,422 (GRCm39) |
P640A |
possibly damaging |
Het |
Grep1 |
T |
C |
17: 23,925,124 (GRCm39) |
N495S |
possibly damaging |
Het |
Grik3 |
A |
G |
4: 125,526,205 (GRCm39) |
D146G |
probably benign |
Het |
Hdac4 |
T |
C |
1: 91,923,896 (GRCm39) |
T205A |
probably benign |
Het |
Kcnq3 |
T |
C |
15: 65,876,643 (GRCm39) |
D500G |
probably benign |
Het |
Kmt5c |
A |
G |
7: 4,749,480 (GRCm39) |
K333E |
probably benign |
Het |
Krt81 |
A |
G |
15: 101,357,404 (GRCm39) |
S443P |
probably benign |
Het |
M6pr |
T |
C |
6: 122,292,121 (GRCm39) |
|
probably null |
Het |
Mccc2 |
T |
A |
13: 100,130,085 (GRCm39) |
I91L |
probably benign |
Het |
Nip7 |
A |
G |
8: 107,785,055 (GRCm39) |
D110G |
probably damaging |
Het |
Nol8 |
T |
A |
13: 49,829,829 (GRCm39) |
F1093I |
probably damaging |
Het |
Nrxn1 |
T |
C |
17: 90,872,874 (GRCm39) |
T1027A |
possibly damaging |
Het |
Ofcc1 |
T |
A |
13: 40,302,052 (GRCm39) |
M495L |
probably benign |
Het |
Or13p10 |
A |
T |
4: 118,523,490 (GRCm39) |
M259L |
probably benign |
Het |
Or7e178 |
A |
G |
9: 20,225,742 (GRCm39) |
M158T |
probably benign |
Het |
Pafah1b2 |
A |
T |
9: 45,886,425 (GRCm39) |
V81D |
probably damaging |
Het |
Pcdhga4 |
A |
T |
18: 37,818,966 (GRCm39) |
S172C |
probably damaging |
Het |
Pds5a |
A |
G |
5: 65,813,639 (GRCm39) |
V282A |
probably damaging |
Het |
Plat |
A |
G |
8: 23,262,282 (GRCm39) |
D102G |
possibly damaging |
Het |
Plce1 |
C |
A |
19: 38,757,909 (GRCm39) |
Q1961K |
probably damaging |
Het |
Plppr3 |
T |
A |
10: 79,697,566 (GRCm39) |
K444* |
probably null |
Het |
Plscr3 |
A |
G |
11: 69,738,472 (GRCm39) |
|
probably null |
Het |
Prtg |
A |
T |
9: 72,813,468 (GRCm39) |
T943S |
probably benign |
Het |
Racgap1 |
A |
G |
15: 99,521,834 (GRCm39) |
F519L |
probably benign |
Het |
Rbms2 |
A |
T |
10: 127,987,050 (GRCm39) |
|
probably null |
Het |
Rfx7 |
A |
G |
9: 72,524,237 (GRCm39) |
T476A |
possibly damaging |
Het |
Rnf150 |
T |
A |
8: 83,810,131 (GRCm39) |
L421Q |
possibly damaging |
Het |
Sema3b |
A |
G |
9: 107,478,119 (GRCm39) |
L422P |
possibly damaging |
Het |
Shank2 |
G |
A |
7: 143,963,417 (GRCm39) |
A921T |
probably benign |
Het |
Skint3 |
A |
T |
4: 112,113,072 (GRCm39) |
E227D |
probably damaging |
Het |
Slc25a19 |
G |
A |
11: 115,508,386 (GRCm39) |
R201C |
possibly damaging |
Het |
Slc38a10 |
G |
T |
11: 120,038,645 (GRCm39) |
A40D |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,917,185 (GRCm39) |
T284A |
probably benign |
Het |
Spry2 |
A |
T |
14: 106,130,418 (GRCm39) |
M256K |
possibly damaging |
Het |
Stkld1 |
C |
T |
2: 26,833,899 (GRCm39) |
P129S |
probably damaging |
Het |
Syce2 |
T |
C |
8: 85,599,371 (GRCm39) |
L13S |
possibly damaging |
Het |
Tbc1d15 |
C |
A |
10: 115,069,148 (GRCm39) |
V74L |
possibly damaging |
Het |
Tecpr2 |
T |
A |
12: 110,911,185 (GRCm39) |
V1074D |
probably damaging |
Het |
Tex36 |
G |
A |
7: 133,197,054 (GRCm39) |
T21I |
probably benign |
Het |
Ttn |
T |
G |
2: 76,554,454 (GRCm39) |
D30787A |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,622,264 (GRCm39) |
Q13710L |
probably benign |
Het |
Usp34 |
T |
C |
11: 23,362,260 (GRCm39) |
F1569L |
possibly damaging |
Het |
Vat1l |
C |
T |
8: 115,098,391 (GRCm39) |
A387V |
probably damaging |
Het |
Vil1 |
G |
A |
1: 74,460,470 (GRCm39) |
G209D |
possibly damaging |
Het |
Vmn1r113 |
G |
T |
7: 20,521,792 (GRCm39) |
D195Y |
probably damaging |
Het |
Vmn2r69 |
A |
C |
7: 85,064,799 (GRCm39) |
I29R |
probably benign |
Het |
Vti1b |
G |
A |
12: 79,207,323 (GRCm39) |
Q76* |
probably null |
Het |
Zfp423 |
C |
A |
8: 88,508,662 (GRCm39) |
V540F |
possibly damaging |
Het |
Zfp644 |
T |
C |
5: 106,785,990 (GRCm39) |
N186D |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
Zfp787 |
G |
A |
7: 6,135,360 (GRCm39) |
A297V |
probably damaging |
Het |
Zfp827 |
G |
T |
8: 79,787,324 (GRCm39) |
Q163H |
probably damaging |
Het |
Zfp955b |
T |
A |
17: 33,522,160 (GRCm39) |
V543E |
probably benign |
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 |
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'- CCACAGCTAATAAAGTGGGTTG -3'
(R):5'- TAGCCCAGTTGGAAAACATAGG -3'
Sequencing Primer
(F):5'- CAAACTAAGAGATCTGCCTGCTTCTG -3'
(R):5'- GCATAATAGTCAAAGCACAGAACTG -3'
|
Posted On |
2018-04-02 |