Incidental Mutation 'R5719:Smc1b'
ID |
451376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
043339-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R5719 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 84980859 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 803
(N803I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: N803I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: N803I
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
98% (79/81) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130051J06Rik |
C |
T |
15: 95,688,641 (GRCm39) |
|
probably benign |
Het |
A630001G21Rik |
T |
A |
1: 85,651,106 (GRCm39) |
R110W |
probably benign |
Het |
Abca4 |
T |
C |
3: 121,928,915 (GRCm39) |
|
probably null |
Het |
Abcc3 |
T |
C |
11: 94,241,894 (GRCm39) |
N1379S |
probably damaging |
Het |
Actrt3 |
A |
C |
3: 30,652,276 (GRCm39) |
F273V |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,417,217 (GRCm39) |
D75G |
probably benign |
Het |
Ash1l |
C |
A |
3: 88,961,805 (GRCm39) |
D2392E |
possibly damaging |
Het |
Ash1l |
T |
C |
3: 88,965,933 (GRCm39) |
I2445T |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,164,071 (GRCm39) |
H1137Q |
probably damaging |
Het |
Cacna2d2 |
A |
G |
9: 107,401,851 (GRCm39) |
I762V |
probably benign |
Het |
Ccdc127 |
T |
A |
13: 74,505,187 (GRCm39) |
|
probably benign |
Het |
Ccdc91 |
C |
G |
6: 147,477,001 (GRCm39) |
L230V |
unknown |
Het |
Cdk13 |
A |
G |
13: 17,894,240 (GRCm39) |
I1129T |
probably damaging |
Het |
Cnot1 |
C |
T |
8: 96,470,924 (GRCm39) |
R1308H |
possibly damaging |
Het |
Crhr2 |
T |
C |
6: 55,080,207 (GRCm39) |
H144R |
probably damaging |
Het |
Dnmt1 |
T |
C |
9: 20,823,891 (GRCm39) |
N993S |
possibly damaging |
Het |
Eif4g1 |
T |
A |
16: 20,507,761 (GRCm39) |
V1182D |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fam234a |
T |
A |
17: 26,433,627 (GRCm39) |
Q399L |
possibly damaging |
Het |
Fyb1 |
A |
T |
15: 6,610,350 (GRCm39) |
K308* |
probably null |
Het |
Gfral |
C |
T |
9: 76,104,328 (GRCm39) |
R228Q |
probably benign |
Het |
Gm10309 |
A |
T |
17: 86,806,421 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm5501 |
G |
A |
18: 9,917,417 (GRCm39) |
|
noncoding transcript |
Het |
Gm6309 |
A |
T |
5: 146,104,992 (GRCm39) |
V307D |
probably benign |
Het |
Gm9871 |
T |
A |
6: 101,773,148 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Herc3 |
T |
A |
6: 58,871,528 (GRCm39) |
V70E |
possibly damaging |
Het |
Hes7 |
A |
G |
11: 69,012,415 (GRCm39) |
E41G |
probably damaging |
Het |
Ifi27l2b |
T |
C |
12: 103,422,046 (GRCm39) |
D106G |
unknown |
Het |
Igfbp6 |
A |
T |
15: 102,056,616 (GRCm39) |
Y184F |
probably damaging |
Het |
Isyna1 |
A |
G |
8: 71,047,352 (GRCm39) |
Y25C |
probably damaging |
Het |
Kcng3 |
G |
T |
17: 83,938,563 (GRCm39) |
T162K |
possibly damaging |
Het |
Krt36 |
T |
C |
11: 99,994,987 (GRCm39) |
D195G |
possibly damaging |
Het |
Lrwd1 |
A |
T |
5: 136,161,093 (GRCm39) |
|
probably null |
Het |
Lsg1 |
C |
T |
16: 30,380,593 (GRCm39) |
A615T |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,059,213 (GRCm39) |
E480D |
probably damaging |
Het |
Myrf |
T |
A |
19: 10,194,087 (GRCm39) |
D690V |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,578,312 (GRCm39) |
I684M |
probably damaging |
Het |
Nlrc3 |
C |
T |
16: 3,781,589 (GRCm39) |
A607T |
probably damaging |
Het |
Nuak1 |
A |
T |
10: 84,245,584 (GRCm39) |
I87N |
probably damaging |
Het |
Odad2 |
G |
T |
18: 7,211,496 (GRCm39) |
Q793K |
probably benign |
Het |
Or5p66 |
T |
G |
7: 107,885,599 (GRCm39) |
T245P |
probably damaging |
Het |
Or5w11 |
T |
C |
2: 87,459,475 (GRCm39) |
|
probably null |
Het |
Or8b4 |
A |
T |
9: 37,830,647 (GRCm39) |
E236D |
probably damaging |
Het |
Osbpl9 |
T |
A |
4: 108,919,763 (GRCm39) |
R689* |
probably null |
Het |
Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
Prss40 |
A |
T |
1: 34,591,598 (GRCm39) |
|
probably benign |
Het |
Ptprd |
T |
A |
4: 75,972,839 (GRCm39) |
|
probably null |
Het |
Rft1 |
T |
C |
14: 30,385,183 (GRCm39) |
|
probably benign |
Het |
Rftn2 |
C |
T |
1: 55,253,445 (GRCm39) |
V53I |
probably damaging |
Het |
Rnaset2a |
T |
C |
17: 8,350,879 (GRCm39) |
Y167C |
probably damaging |
Het |
Schip1 |
T |
C |
3: 68,315,560 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
C |
9: 119,359,118 (GRCm39) |
L643R |
possibly damaging |
Het |
Shroom3 |
T |
A |
5: 93,090,877 (GRCm39) |
M1128K |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc14a2 |
A |
G |
18: 78,252,257 (GRCm39) |
L18P |
probably benign |
Het |
Slc22a3 |
C |
T |
17: 12,642,691 (GRCm39) |
V509M |
probably damaging |
Het |
Slc7a5 |
A |
C |
8: 122,610,381 (GRCm39) |
F478V |
probably benign |
Het |
Snf8 |
T |
A |
11: 95,932,551 (GRCm39) |
N115K |
probably damaging |
Het |
Stox2 |
T |
A |
8: 47,866,172 (GRCm39) |
K57* |
probably null |
Het |
Tmem248 |
T |
A |
5: 130,258,429 (GRCm39) |
F41I |
probably damaging |
Het |
Tmprss7 |
T |
C |
16: 45,506,793 (GRCm39) |
S90G |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,703,700 (GRCm39) |
V285A |
probably damaging |
Het |
Tsen15 |
T |
C |
1: 152,247,534 (GRCm39) |
T153A |
probably damaging |
Het |
Usp34 |
T |
G |
11: 23,304,846 (GRCm39) |
S360A |
probably benign |
Het |
Wdr24 |
T |
C |
17: 26,047,314 (GRCm39) |
|
probably null |
Het |
Zbtb2 |
G |
A |
10: 4,319,456 (GRCm39) |
T190I |
probably benign |
Het |
Zranb3 |
T |
C |
1: 127,891,613 (GRCm39) |
S788G |
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 |
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 |
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'- TTGAATATCAAACTAAGGCAGGGC -3'
(R):5'- CCTTTTGGCCTAACTCATGAAAATC -3'
Sequencing Primer
(F):5'- CCTATGTATGCAAGGCAAGTCTG -3'
(R):5'- GGCCTAACTCATGAAAATCTAAGAG -3'
|
Posted On |
2017-01-03 |