Incidental Mutation 'R6737:Smc1b'
| ID |
530273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Smc1b
|
| Ensembl Gene |
ENSMUSG00000022432 |
| Gene Name |
structural maintenance of chromosomes 1B |
| Synonyms |
Smc1l2, SMC1beta |
| MMRRC Submission |
044855-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.696)
|
| Stock # |
R6737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 84976232 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 825
(R825Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000227591]
|
| AlphaFold |
Q920F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: R825Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000023068
Gene: ENSMUSG00000022432
AA Change: R825Q
| 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: ENSMUST00000227591
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
T |
C |
16: 88,504,456 (GRCm39) |
R114G |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,397,351 (GRCm39) |
S1661T |
probably benign |
Het |
| Castor1 |
A |
G |
11: 4,171,685 (GRCm39) |
D303G |
probably damaging |
Het |
| Cd69 |
C |
T |
6: 129,245,262 (GRCm39) |
A188T |
probably benign |
Het |
| Cecr2 |
G |
T |
6: 120,714,084 (GRCm39) |
L225F |
possibly damaging |
Het |
| Cep295 |
A |
G |
9: 15,243,647 (GRCm39) |
V1603A |
possibly damaging |
Het |
| Clec4g |
T |
C |
8: 3,757,716 (GRCm39) |
|
probably benign |
Het |
| Clptm1 |
A |
T |
7: 19,371,001 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
G |
T |
4: 133,800,001 (GRCm39) |
G387V |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,391,140 (GRCm39) |
M249K |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,966,980 (GRCm39) |
S952* |
probably null |
Het |
| Cxcr2 |
T |
C |
1: 74,197,790 (GRCm39) |
F95L |
probably benign |
Het |
| Ddx55 |
C |
A |
5: 124,691,008 (GRCm39) |
T5K |
probably damaging |
Het |
| Depp1 |
G |
T |
6: 116,629,058 (GRCm39) |
V134L |
possibly damaging |
Het |
| Eif2ak2 |
T |
C |
17: 79,171,377 (GRCm39) |
N342S |
probably benign |
Het |
| Eif2ak4 |
TGG |
TG |
2: 118,292,749 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
C |
G |
10: 25,364,916 (GRCm39) |
|
probably null |
Het |
| Fam234b |
A |
G |
6: 135,205,513 (GRCm39) |
K493E |
probably damaging |
Het |
| Fndc7 |
C |
A |
3: 108,779,594 (GRCm39) |
V317L |
probably damaging |
Het |
| Fpr-rs6 |
T |
C |
17: 20,403,339 (GRCm39) |
I7M |
probably benign |
Het |
| Gal3st1 |
T |
A |
11: 3,948,903 (GRCm39) |
I370N |
probably benign |
Het |
| Glo1 |
C |
T |
17: 30,816,814 (GRCm39) |
S114N |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,848,279 (GRCm39) |
D163G |
probably damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,835 (GRCm39) |
C195R |
probably damaging |
Het |
| Hdac9 |
T |
C |
12: 34,265,451 (GRCm39) |
N806S |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,897,605 (GRCm39) |
N987S |
probably benign |
Het |
| Klhl29 |
G |
T |
12: 5,260,124 (GRCm39) |
S31R |
possibly damaging |
Het |
| Lama4 |
C |
T |
10: 38,970,907 (GRCm39) |
R1491C |
probably damaging |
Het |
| Lmtk3 |
T |
C |
7: 45,443,051 (GRCm39) |
L578P |
probably damaging |
Het |
| Lrrk2 |
A |
C |
15: 91,607,421 (GRCm39) |
M595L |
possibly damaging |
Het |
| Mmp27 |
A |
T |
9: 7,571,955 (GRCm39) |
N52Y |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,276,088 (GRCm39) |
A474V |
possibly damaging |
Het |
| Msl1 |
A |
G |
11: 98,694,908 (GRCm39) |
H134R |
probably damaging |
Het |
| Muc5b |
T |
C |
7: 141,411,236 (GRCm39) |
M1394T |
unknown |
Het |
| Myof |
G |
A |
19: 37,931,962 (GRCm39) |
T968I |
probably benign |
Het |
| Nat8f2 |
A |
T |
6: 85,845,194 (GRCm39) |
M56K |
probably benign |
Het |
| Ncoa5 |
C |
T |
2: 164,844,055 (GRCm39) |
G116D |
probably damaging |
Het |
| Ndst2 |
A |
G |
14: 20,777,562 (GRCm39) |
L494P |
probably damaging |
Het |
| Nfatc3 |
T |
A |
8: 106,810,601 (GRCm39) |
V459E |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,633,030 (GRCm39) |
Y1034N |
probably damaging |
Het |
| Nup153 |
A |
T |
13: 46,842,682 (GRCm39) |
S829T |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,732 (GRCm39) |
S206G |
probably benign |
Het |
| Or4f47 |
T |
C |
2: 111,972,548 (GRCm39) |
F86S |
probably damaging |
Het |
| Or52a24 |
C |
T |
7: 103,381,357 (GRCm39) |
L75F |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,175 (GRCm39) |
L285P |
possibly damaging |
Het |
| Pcdh18 |
C |
A |
3: 49,710,344 (GRCm39) |
V324F |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,723 (GRCm39) |
L701H |
probably damaging |
Het |
| Plau |
T |
G |
14: 20,887,884 (GRCm39) |
Y43D |
probably damaging |
Het |
| Pld5 |
T |
A |
1: 175,917,588 (GRCm39) |
N53I |
probably damaging |
Het |
| Pon2 |
T |
A |
6: 5,266,183 (GRCm39) |
I279F |
probably benign |
Het |
| Prep |
A |
T |
10: 44,973,591 (GRCm39) |
K233I |
possibly damaging |
Het |
| Rap1b |
T |
C |
10: 117,658,713 (GRCm39) |
Y40C |
probably damaging |
Het |
| Ric8a |
T |
C |
7: 140,438,789 (GRCm39) |
|
probably null |
Het |
| Rnf19b |
T |
C |
4: 128,979,344 (GRCm39) |
|
probably benign |
Het |
| Rpl9-ps6 |
A |
C |
19: 32,443,727 (GRCm39) |
S75R |
probably damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,719,818 (GRCm39) |
Y609C |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,392,936 (GRCm39) |
N1232S |
unknown |
Het |
| Slc28a1 |
T |
G |
7: 80,818,996 (GRCm39) |
V615G |
probably benign |
Het |
| Snx13 |
T |
G |
12: 35,190,185 (GRCm39) |
N845K |
probably damaging |
Het |
| Srms |
T |
C |
2: 180,851,253 (GRCm39) |
Y171C |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,122,644 (GRCm39) |
L193P |
probably damaging |
Het |
| Syt7 |
G |
A |
19: 10,421,408 (GRCm39) |
V531M |
probably damaging |
Het |
| Tmem255b |
T |
C |
8: 13,507,096 (GRCm39) |
|
probably null |
Het |
| Tnik |
A |
T |
3: 28,650,235 (GRCm39) |
K449N |
possibly damaging |
Het |
| Trim29 |
A |
T |
9: 43,230,681 (GRCm39) |
D288V |
probably benign |
Het |
| Ttc13 |
T |
A |
8: 125,408,900 (GRCm39) |
|
probably null |
Het |
| Uchl3 |
A |
T |
14: 101,928,033 (GRCm39) |
D167V |
probably damaging |
Het |
| Ugt3a1 |
T |
C |
15: 9,311,895 (GRCm39) |
V379A |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,910,757 (GRCm39) |
D3507G |
probably damaging |
Het |
| Wfdc2 |
A |
T |
2: 164,405,362 (GRCm39) |
K88* |
probably null |
Het |
| Ylpm1 |
C |
A |
12: 85,077,620 (GRCm39) |
H1448Q |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,751,305 (GRCm39) |
K667E |
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 |
|
|
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 |
|
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'- CTGATCACAATAAGGCACCATTGG -3'
(R):5'- GGCAATGGCAGTGATTATATTAAGG -3'
Sequencing Primer
(F):5'- GGCACTTCAGCTACTGAT -3'
(R):5'- CAGAGAACACTTACTGCTCTTGGAG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation