Incidental Mutation 'R8004:Smc1b'
ID |
616539 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
046044-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R8004 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 84981815 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Phenylalanine
at position 735
(S735F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: S735F
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: S735F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (61/61) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
T |
A |
1: 12,021,286 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
T |
A |
2: 69,087,554 (GRCm39) |
K1070N |
possibly damaging |
Het |
Ankrd24 |
T |
A |
10: 81,474,191 (GRCm39) |
N179K |
unknown |
Het |
Atp6v0a4 |
A |
T |
6: 38,027,484 (GRCm39) |
F775L |
possibly damaging |
Het |
Bbs2 |
A |
G |
8: 94,809,118 (GRCm39) |
V269A |
possibly damaging |
Het |
Bpifc |
T |
G |
10: 85,815,148 (GRCm39) |
S273R |
probably benign |
Het |
Cdan1 |
C |
T |
2: 120,561,924 (GRCm39) |
R20Q |
unknown |
Het |
Cfap251 |
T |
C |
5: 123,392,513 (GRCm39) |
W216R |
unknown |
Het |
Chrm2 |
T |
A |
6: 36,500,221 (GRCm39) |
I26N |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,505,273 (GRCm39) |
K669E |
possibly damaging |
Het |
Cnot1 |
T |
C |
8: 96,479,380 (GRCm39) |
I876V |
probably benign |
Het |
Col12a1 |
T |
A |
9: 79,591,683 (GRCm39) |
T926S |
probably damaging |
Het |
Cyp2b23 |
G |
T |
7: 26,378,891 (GRCm39) |
T191K |
probably benign |
Het |
Dipk1a |
T |
C |
5: 108,057,532 (GRCm39) |
D342G |
probably damaging |
Het |
Dpp4 |
A |
G |
2: 62,189,172 (GRCm39) |
V453A |
probably benign |
Het |
Eif2ak4 |
T |
C |
2: 118,247,775 (GRCm39) |
S271P |
possibly damaging |
Het |
Fbxw20 |
G |
T |
9: 109,050,449 (GRCm39) |
P392H |
probably damaging |
Het |
Fcho2 |
T |
A |
13: 98,926,013 (GRCm39) |
E118V |
possibly damaging |
Het |
Gm2042 |
C |
G |
12: 87,926,921 (GRCm39) |
Q413E |
possibly damaging |
Het |
Gm904 |
G |
A |
13: 50,799,343 (GRCm39) |
|
probably null |
Het |
H2-D1 |
A |
G |
17: 35,485,672 (GRCm39) |
S352G |
probably benign |
Het |
Igf2bp3 |
C |
A |
6: 49,067,954 (GRCm39) |
V451L |
probably benign |
Het |
Igkv1-99 |
T |
C |
6: 68,519,112 (GRCm39) |
V23A |
|
Het |
Igsf10 |
A |
G |
3: 59,237,130 (GRCm39) |
I1017T |
probably benign |
Het |
Il18r1 |
G |
A |
1: 40,513,917 (GRCm39) |
C41Y |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,873,531 (GRCm39) |
D249G |
probably benign |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Lrrn2 |
T |
A |
1: 132,865,489 (GRCm39) |
F185I |
probably damaging |
Het |
Mllt6 |
G |
T |
11: 97,566,966 (GRCm39) |
E635D |
possibly damaging |
Het |
Msh6 |
A |
G |
17: 88,294,215 (GRCm39) |
E990G |
probably damaging |
Het |
Myo1h |
A |
T |
5: 114,458,769 (GRCm39) |
D184V |
|
Het |
Nfatc2ip |
A |
G |
7: 125,989,577 (GRCm39) |
V269A |
possibly damaging |
Het |
Nfkb1 |
C |
A |
3: 135,297,312 (GRCm39) |
|
probably benign |
Het |
Nol12 |
A |
T |
15: 78,824,717 (GRCm39) |
K181N |
probably damaging |
Het |
Npl |
T |
A |
1: 153,379,286 (GRCm39) |
T266S |
probably benign |
Het |
Oog2 |
A |
T |
4: 143,920,821 (GRCm39) |
I85L |
probably benign |
Het |
Or5k3 |
T |
A |
16: 58,969,351 (GRCm39) |
V46E |
probably damaging |
Het |
Or7e171-ps1 |
A |
T |
9: 19,853,408 (GRCm39) |
D109E |
possibly damaging |
Het |
Parm1 |
A |
C |
5: 91,742,132 (GRCm39) |
S167R |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,158,674 (GRCm39) |
D526G |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Psmd9 |
T |
C |
5: 123,379,998 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,749,242 (GRCm39) |
V1220A |
probably damaging |
Het |
Rbm25 |
A |
T |
12: 83,721,166 (GRCm39) |
E577D |
possibly damaging |
Het |
Rbm44 |
T |
A |
1: 91,079,880 (GRCm39) |
|
probably benign |
Het |
S100a6 |
T |
C |
3: 90,521,119 (GRCm39) |
F16L |
probably benign |
Het |
Sar1a |
C |
A |
10: 61,520,945 (GRCm39) |
H53Q |
probably benign |
Het |
Setd2 |
G |
A |
9: 110,421,613 (GRCm39) |
A282T |
|
Het |
Slc35f5 |
A |
T |
1: 125,517,624 (GRCm39) |
H474L |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,525,711 (GRCm39) |
|
probably null |
Het |
Sp3 |
A |
T |
2: 72,800,552 (GRCm39) |
I531K |
possibly damaging |
Het |
St6galnac5 |
A |
T |
3: 152,545,802 (GRCm39) |
M252K |
probably damaging |
Het |
Tas2r120 |
T |
A |
6: 132,634,390 (GRCm39) |
H157Q |
possibly damaging |
Het |
Tbc1d10b |
T |
A |
7: 126,798,183 (GRCm39) |
S653C |
probably damaging |
Het |
Tex10 |
T |
C |
4: 48,452,047 (GRCm39) |
E693G |
possibly damaging |
Het |
Thada |
A |
G |
17: 84,499,633 (GRCm39) |
S1855P |
probably benign |
Het |
Tjp2 |
G |
A |
19: 24,091,484 (GRCm39) |
P559L |
probably damaging |
Het |
Tmem184b |
A |
G |
15: 79,246,966 (GRCm39) |
S368P |
probably damaging |
Het |
Tnc |
G |
A |
4: 63,902,894 (GRCm39) |
S1461L |
probably benign |
Het |
Tnpo2 |
T |
C |
8: 85,771,328 (GRCm39) |
F177S |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,506 (GRCm39) |
Y241* |
probably null |
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 |
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 |
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'- ACTCCATAGTCATATGTACACAGC -3'
(R):5'- TACCGGGTAATGTAAACTTGCC -3'
Sequencing Primer
(F):5'- TAGTCATATGTACACAGCCAAAAAC -3'
(R):5'- CCGGGTAATGTAAACTTGCCAAAAAG -3'
|
Posted On |
2020-01-23 |