Incidental Mutation 'R9149:Smc1b'
ID |
694927 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R9149 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 84950431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1198
(V1198I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000023069]
[ENSMUST00000227591]
[ENSMUST00000229203]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: V1198I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: V1198I
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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (90/90) |
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: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,396,304 (GRCm39) |
S103N |
probably benign |
Het |
Ace |
A |
G |
11: 105,863,299 (GRCm39) |
D358G |
possibly damaging |
Het |
Acvr2b |
A |
T |
9: 119,257,116 (GRCm39) |
H115L |
probably damaging |
Het |
Adam15 |
G |
A |
3: 89,254,742 (GRCm39) |
T106I |
possibly damaging |
Het |
Adamts16 |
A |
G |
13: 70,883,948 (GRCm39) |
C1076R |
probably damaging |
Het |
Adcy5 |
A |
G |
16: 35,092,481 (GRCm39) |
Y614C |
probably damaging |
Het |
Adhfe1 |
A |
T |
1: 9,627,276 (GRCm39) |
H225L |
probably benign |
Het |
Aff3 |
A |
G |
1: 38,220,397 (GRCm39) |
I1171T |
probably damaging |
Het |
Agps |
T |
A |
2: 75,697,182 (GRCm39) |
M334K |
probably damaging |
Het |
Akr1e1 |
A |
G |
13: 4,652,678 (GRCm39) |
|
probably null |
Het |
Als2cl |
G |
A |
9: 110,718,191 (GRCm39) |
V311M |
probably benign |
Het |
Amdhd1 |
A |
T |
10: 93,375,813 (GRCm39) |
L7H |
probably damaging |
Het |
Apba1 |
A |
T |
19: 23,870,782 (GRCm39) |
I205F |
probably damaging |
Het |
Arhgap26 |
A |
T |
18: 39,244,917 (GRCm39) |
E187D |
possibly damaging |
Het |
Ash1l |
A |
T |
3: 88,914,530 (GRCm39) |
H1720L |
probably benign |
Het |
Atp9a |
T |
C |
2: 168,575,988 (GRCm39) |
|
probably benign |
Het |
Bcl7c |
G |
A |
7: 127,307,695 (GRCm39) |
A2V |
probably damaging |
Het |
Catsperg1 |
G |
C |
7: 28,909,912 (GRCm39) |
P72R |
probably benign |
Het |
Ccdc103 |
G |
A |
11: 102,774,922 (GRCm39) |
G174R |
probably benign |
Het |
Ccdc171 |
A |
T |
4: 83,612,512 (GRCm39) |
K976M |
probably damaging |
Het |
Ceacam1 |
T |
C |
7: 25,173,360 (GRCm39) |
N276S |
possibly damaging |
Het |
Cep152 |
T |
C |
2: 125,463,127 (GRCm39) |
E18G |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,461,803 (GRCm39) |
N91S |
probably damaging |
Het |
Cers3 |
T |
C |
7: 66,393,442 (GRCm39) |
L17P |
probably benign |
Het |
Cpsf3 |
A |
G |
12: 21,356,844 (GRCm39) |
N489S |
possibly damaging |
Het |
Cramp1 |
A |
G |
17: 25,187,920 (GRCm39) |
S1225P |
probably damaging |
Het |
Dck |
G |
A |
5: 88,913,166 (GRCm39) |
G18R |
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,387,914 (GRCm39) |
E3124D |
probably benign |
Het |
Dync2i2 |
T |
A |
2: 29,923,953 (GRCm39) |
T191S |
probably benign |
Het |
Eogt |
T |
G |
6: 97,090,839 (GRCm39) |
L433F |
probably damaging |
Het |
Fam135b |
A |
G |
15: 71,334,744 (GRCm39) |
S817P |
|
Het |
Fsip2 |
T |
C |
2: 82,812,374 (GRCm39) |
Y2898H |
possibly damaging |
Het |
Fzr1 |
T |
C |
10: 81,205,249 (GRCm39) |
H249R |
probably benign |
Het |
Gbp10 |
T |
G |
5: 105,366,861 (GRCm39) |
Q457P |
probably damaging |
Het |
Gin1 |
G |
C |
1: 97,710,819 (GRCm39) |
L167F |
probably damaging |
Het |
Gm14226 |
A |
T |
2: 154,866,843 (GRCm39) |
I267F |
probably damaging |
Het |
Gmnc |
A |
G |
16: 26,781,642 (GRCm39) |
|
probably null |
Het |
Hectd2 |
A |
T |
19: 36,576,402 (GRCm39) |
I311F |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,558,961 (GRCm39) |
K1085E |
probably benign |
Het |
Hmbs |
G |
A |
9: 44,252,983 (GRCm39) |
Q34* |
probably null |
Het |
Hyal6 |
T |
A |
6: 24,734,151 (GRCm39) |
M28K |
probably benign |
Het |
Ifi27l2a |
T |
C |
12: 103,405,678 (GRCm39) |
V141A |
possibly damaging |
Het |
Ift122 |
T |
A |
6: 115,867,492 (GRCm39) |
I414N |
probably damaging |
Het |
Iglv2 |
A |
T |
16: 19,079,434 (GRCm39) |
V23E |
probably damaging |
Het |
Itgax |
A |
T |
7: 127,730,641 (GRCm39) |
I120L |
probably benign |
Het |
Kifc3 |
A |
G |
8: 95,853,317 (GRCm39) |
I13T |
probably benign |
Het |
Lmod3 |
T |
C |
6: 97,224,625 (GRCm39) |
N399D |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,365,326 (GRCm39) |
I3145K |
probably benign |
Het |
Map2k5 |
A |
C |
9: 63,201,006 (GRCm39) |
I209S |
probably damaging |
Het |
Mbd5 |
A |
G |
2: 49,141,388 (GRCm39) |
E117G |
probably damaging |
Het |
Milr1 |
A |
G |
11: 106,652,105 (GRCm39) |
H172R |
probably benign |
Het |
Myod1 |
A |
C |
7: 46,026,593 (GRCm39) |
D166A |
|
Het |
Neb |
C |
T |
2: 52,100,878 (GRCm39) |
V4647M |
possibly damaging |
Het |
Nek1 |
A |
T |
8: 61,574,055 (GRCm39) |
D1101V |
probably damaging |
Het |
Nlrp2 |
A |
T |
7: 5,330,572 (GRCm39) |
V608D |
probably benign |
Het |
Noc3l |
G |
A |
19: 38,800,835 (GRCm39) |
Q216* |
probably null |
Het |
Nos1 |
G |
C |
5: 118,017,402 (GRCm39) |
R255P |
probably benign |
Het |
Nup160 |
T |
A |
2: 90,552,585 (GRCm39) |
|
probably benign |
Het |
Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
Oat |
C |
T |
7: 132,166,006 (GRCm39) |
S193N |
probably benign |
Het |
Oma1 |
A |
G |
4: 103,182,214 (GRCm39) |
|
probably null |
Het |
Or12e13 |
G |
T |
2: 87,663,523 (GRCm39) |
G47* |
probably null |
Het |
Or1e16 |
T |
A |
11: 73,286,853 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
G |
2: 36,458,988 (GRCm39) |
F126C |
probably benign |
Het |
Or6c206 |
A |
G |
10: 129,097,184 (GRCm39) |
Y118C |
probably damaging |
Het |
Or6c216 |
A |
G |
10: 129,678,482 (GRCm39) |
V143A |
probably damaging |
Het |
Os9 |
A |
G |
10: 126,933,918 (GRCm39) |
S500P |
possibly damaging |
Het |
Osbpl11 |
A |
T |
16: 33,047,660 (GRCm39) |
N541I |
|
Het |
Pcnx4 |
A |
G |
12: 72,613,671 (GRCm39) |
I539V |
probably benign |
Het |
Ppfia3 |
T |
A |
7: 44,999,717 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
T |
C |
6: 14,722,098 (GRCm39) |
K275E |
probably benign |
Het |
Pten |
A |
G |
19: 32,769,972 (GRCm39) |
N63S |
probably benign |
Het |
Rptor |
A |
G |
11: 119,777,896 (GRCm39) |
N1020S |
probably benign |
Het |
Sall2 |
C |
A |
14: 52,550,673 (GRCm39) |
D841Y |
possibly damaging |
Het |
Sbno1 |
T |
A |
5: 124,519,762 (GRCm39) |
H1172L |
probably benign |
Het |
Scaf4 |
A |
T |
16: 90,027,054 (GRCm39) |
L921Q |
probably damaging |
Het |
Sec22c |
C |
A |
9: 121,524,750 (GRCm39) |
R11L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,034,173 (GRCm39) |
D318V |
probably damaging |
Het |
Slc22a28 |
T |
C |
19: 8,049,205 (GRCm39) |
N348S |
probably benign |
Het |
Slc44a2 |
G |
T |
9: 21,253,305 (GRCm39) |
K77N |
possibly damaging |
Het |
Spef2 |
A |
T |
15: 9,717,568 (GRCm39) |
M316K |
probably damaging |
Het |
Stra8 |
T |
C |
6: 34,911,016 (GRCm39) |
Y215H |
probably damaging |
Het |
Sv2a |
G |
T |
3: 96,097,010 (GRCm39) |
R445L |
probably benign |
Het |
Sycp1 |
A |
C |
3: 102,758,944 (GRCm39) |
L771R |
probably damaging |
Het |
Tchp |
A |
T |
5: 114,859,184 (GRCm39) |
R493* |
probably null |
Het |
Ttc13 |
G |
A |
8: 125,410,039 (GRCm39) |
A391V |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,176,186 (GRCm39) |
T2338I |
unknown |
Het |
Wac |
A |
G |
18: 7,921,592 (GRCm39) |
D576G |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,222,688 (GRCm39) |
N559S |
probably benign |
Het |
Zscan20 |
A |
T |
4: 128,481,914 (GRCm39) |
S583T |
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 |
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 |
|
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'- CACATATTTACTCGTGTGTGGG -3'
(R):5'- TTGTTCCCAGAGCCCAAAG -3'
Sequencing Primer
(F):5'- ACGTGGGTCTCAGTGATCAAACTC -3'
(R):5'- AGCCCAAAGGAGGCCTTG -3'
|
Posted On |
2022-01-20 |