Incidental Mutation 'R9245:Smc1b'
ID |
701257 |
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 # |
R9245 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 85004846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 409
(F409L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: F409L
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: F409L
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: 99.8%
- 20x: 99.3%
|
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: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd15 |
C |
A |
11: 77,406,312 (GRCm39) |
H96Q |
possibly damaging |
Het |
Ankhd1 |
A |
G |
18: 36,788,653 (GRCm39) |
Q411R |
|
Het |
Ankrd34c |
A |
T |
9: 89,610,940 (GRCm39) |
V467E |
probably damaging |
Het |
Apobr |
A |
T |
7: 126,186,507 (GRCm39) |
R673* |
probably null |
Het |
Arhgap18 |
T |
C |
10: 26,722,107 (GRCm39) |
V98A |
possibly damaging |
Het |
Arhgap30 |
G |
T |
1: 171,235,957 (GRCm39) |
W777L |
possibly damaging |
Het |
Atp8a1 |
A |
G |
5: 67,779,977 (GRCm39) |
Y1154H |
unknown |
Het |
B3gntl1 |
A |
G |
11: 121,514,770 (GRCm39) |
F299S |
possibly damaging |
Het |
Baz2a |
C |
T |
10: 127,957,812 (GRCm39) |
T1055I |
probably benign |
Het |
Baz2b |
T |
C |
2: 59,743,331 (GRCm39) |
M1547V |
probably benign |
Het |
Bsn |
T |
C |
9: 107,993,292 (GRCm39) |
D820G |
probably damaging |
Het |
Castor1 |
T |
A |
11: 4,170,485 (GRCm39) |
N160K |
probably damaging |
Het |
Ccdc57 |
A |
G |
11: 120,812,578 (GRCm39) |
Y59H |
probably damaging |
Het |
Crim1 |
T |
A |
17: 78,651,871 (GRCm39) |
C532S |
probably damaging |
Het |
Csmd2 |
A |
C |
4: 128,200,168 (GRCm39) |
D451A |
|
Het |
Cyp2d22 |
A |
T |
15: 82,256,748 (GRCm39) |
I342K |
probably damaging |
Het |
Des |
A |
T |
1: 75,343,406 (GRCm39) |
T430S |
probably benign |
Het |
Dnah17 |
C |
T |
11: 118,016,503 (GRCm39) |
V283I |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
Dst |
A |
G |
1: 34,228,943 (GRCm39) |
S2179G |
probably benign |
Het |
Elp1 |
C |
A |
4: 56,771,003 (GRCm39) |
R980L |
probably benign |
Het |
Esrp2 |
T |
A |
8: 106,858,775 (GRCm39) |
T621S |
possibly damaging |
Het |
Ext2 |
C |
T |
2: 93,534,836 (GRCm39) |
V643I |
probably benign |
Het |
Fastk |
G |
A |
5: 24,649,172 (GRCm39) |
P72S |
probably benign |
Het |
Fbxo28 |
A |
G |
1: 182,145,566 (GRCm39) |
I174T |
possibly damaging |
Het |
Fstl3 |
C |
T |
10: 79,614,411 (GRCm39) |
L38F |
probably damaging |
Het |
Golgb1 |
C |
T |
16: 36,739,181 (GRCm39) |
Q2548* |
probably null |
Het |
Gstm3 |
T |
C |
3: 107,874,956 (GRCm39) |
T99A |
probably benign |
Het |
H2bc15 |
A |
G |
13: 21,938,369 (GRCm39) |
D26G |
unknown |
Het |
Hadh |
T |
C |
3: 131,034,636 (GRCm39) |
N220S |
probably damaging |
Het |
Hnrnpab |
T |
C |
11: 51,497,240 (GRCm39) |
T51A |
probably benign |
Het |
Immt |
G |
T |
6: 71,823,350 (GRCm39) |
W67L |
probably benign |
Het |
Ints8 |
T |
A |
4: 11,213,811 (GRCm39) |
|
probably null |
Het |
Ipo7 |
T |
C |
7: 109,643,826 (GRCm39) |
V407A |
probably damaging |
Het |
Kics2 |
A |
T |
10: 121,586,273 (GRCm39) |
H196L |
probably damaging |
Het |
Kif20b |
T |
C |
19: 34,915,725 (GRCm39) |
S501P |
probably benign |
Het |
Krt39 |
T |
G |
11: 99,407,450 (GRCm39) |
Q348P |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,488,456 (GRCm39) |
N4543I |
|
Het |
Macrod2 |
T |
C |
2: 141,652,534 (GRCm39) |
V199A |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,167,701 (GRCm39) |
V1052A |
probably damaging |
Het |
Mfap4 |
T |
C |
11: 61,378,007 (GRCm39) |
F149S |
probably damaging |
Het |
Moap1 |
A |
G |
12: 102,708,526 (GRCm39) |
V341A |
unknown |
Het |
Mprip |
G |
T |
11: 59,628,403 (GRCm39) |
E283D |
possibly damaging |
Het |
Mrgpra2a |
A |
G |
7: 47,077,004 (GRCm39) |
F85L |
possibly damaging |
Het |
Mx1 |
T |
A |
16: 97,252,753 (GRCm39) |
|
probably null |
Het |
Ndc80 |
A |
T |
17: 71,807,294 (GRCm39) |
M554K |
probably benign |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Or52j3 |
A |
T |
7: 102,836,194 (GRCm39) |
I129F |
probably damaging |
Het |
Or5k1b |
T |
A |
16: 58,581,126 (GRCm39) |
K138* |
probably null |
Het |
Or6c38 |
T |
A |
10: 128,929,472 (GRCm39) |
I124F |
probably damaging |
Het |
Pck1 |
C |
T |
2: 172,996,569 (GRCm39) |
T161I |
probably damaging |
Het |
Pclo |
T |
A |
5: 14,726,959 (GRCm39) |
M1939K |
unknown |
Het |
Pcm1 |
T |
A |
8: 41,732,877 (GRCm39) |
N711K |
probably damaging |
Het |
Pkd2l1 |
A |
G |
19: 44,143,894 (GRCm39) |
V393A |
probably benign |
Het |
Pla2g15 |
G |
T |
8: 106,889,539 (GRCm39) |
A229S |
possibly damaging |
Het |
Plekhg1 |
G |
A |
10: 3,907,141 (GRCm39) |
R741Q |
|
Het |
Plod1 |
A |
G |
4: 148,010,626 (GRCm39) |
L275P |
possibly damaging |
Het |
Plvap |
G |
T |
8: 71,964,323 (GRCm39) |
T13K |
possibly damaging |
Het |
Plxna1 |
A |
T |
6: 89,314,320 (GRCm39) |
I707N |
probably damaging |
Het |
Pnma8b |
A |
G |
7: 16,680,843 (GRCm39) |
E609G |
probably benign |
Het |
Ptger4 |
C |
T |
15: 5,273,193 (GRCm39) |
|
probably benign |
Het |
Qars1 |
G |
T |
9: 108,386,132 (GRCm39) |
E108* |
probably null |
Het |
Rfpl4 |
C |
A |
7: 5,113,840 (GRCm39) |
D114Y |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,010,411 (GRCm39) |
T207A |
probably benign |
Het |
Rxfp1 |
A |
G |
3: 79,552,261 (GRCm39) |
I680T |
probably benign |
Het |
Skint2 |
A |
T |
4: 112,502,616 (GRCm39) |
K275N |
probably benign |
Het |
Slc29a3 |
A |
G |
10: 60,559,755 (GRCm39) |
V133A |
possibly damaging |
Het |
Slc9a2 |
A |
G |
1: 40,805,460 (GRCm39) |
K680E |
probably benign |
Het |
Sos2 |
A |
T |
12: 69,695,239 (GRCm39) |
M166K |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,123,554 (GRCm39) |
D3152G |
probably benign |
Het |
Tead1 |
A |
G |
7: 112,358,723 (GRCm39) |
I12V |
probably benign |
Het |
Tead3 |
C |
A |
17: 28,551,709 (GRCm39) |
K461N |
probably benign |
Het |
Tex12 |
C |
A |
9: 50,468,772 (GRCm39) |
A83S |
probably damaging |
Het |
Top6bl |
T |
G |
19: 4,746,068 (GRCm39) |
K199Q |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,325,525 (GRCm39) |
T319A |
unknown |
Het |
Ttn |
T |
C |
2: 76,728,593 (GRCm39) |
I5496V |
unknown |
Het |
Tubb4a |
T |
A |
17: 57,387,959 (GRCm39) |
I356F |
possibly damaging |
Het |
Txk |
A |
T |
5: 72,891,610 (GRCm39) |
W119R |
probably damaging |
Het |
Txnl4a |
A |
T |
18: 80,261,937 (GRCm39) |
I58F |
probably benign |
Het |
Uba6 |
A |
T |
5: 86,318,418 (GRCm39) |
Y44N |
probably damaging |
Het |
Usp40 |
T |
C |
1: 87,878,009 (GRCm39) |
T1093A |
probably benign |
Het |
Vmn1r194 |
T |
C |
13: 22,428,731 (GRCm39) |
I116T |
probably benign |
Het |
Vmn2r14 |
A |
G |
5: 109,368,176 (GRCm39) |
M272T |
possibly damaging |
Het |
Vmn2r85 |
C |
A |
10: 130,255,033 (GRCm39) |
M550I |
possibly damaging |
Het |
Vmn2r85 |
C |
A |
10: 130,261,534 (GRCm39) |
V268F |
probably damaging |
Het |
Vwa5b2 |
T |
A |
16: 20,416,890 (GRCm39) |
V529E |
probably damaging |
Het |
Zfp141 |
A |
T |
7: 42,124,821 (GRCm39) |
Y550* |
probably null |
Het |
Zik1 |
G |
A |
7: 10,224,156 (GRCm39) |
L314F |
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 |
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 |
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'- CCTGAACACATATGAGGGCATG -3'
(R):5'- ATTTTGATGAGAACAGGATGCC -3'
Sequencing Primer
(F):5'- GGCATGGCCTACTCTAACTATAAAAG -3'
(R):5'- TGAGAACAGGATGCCATATAATTTC -3'
|
Posted On |
2022-03-25 |