Incidental Mutation 'R0207:Smc1b'
ID |
33425 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
MMRRC Submission |
038460-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R0207 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 85007960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 272
(M272I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023068
AA Change: M272I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: M272I
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 |
0.1150 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.5%
|
Validation Efficiency |
95% (76/80) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
A |
G |
4: 53,086,039 (GRCm39) |
F488S |
probably damaging |
Het |
Acap3 |
C |
T |
4: 155,983,881 (GRCm39) |
R116W |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,764,364 (GRCm39) |
P663T |
possibly damaging |
Het |
Akap12 |
G |
A |
10: 4,303,333 (GRCm39) |
G48S |
probably damaging |
Het |
Ankrd7 |
T |
A |
6: 18,870,030 (GRCm39) |
M261K |
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,174,948 (GRCm39) |
D599E |
possibly damaging |
Het |
Aox1 |
T |
C |
1: 58,144,173 (GRCm39) |
I1278T |
possibly damaging |
Het |
Apcdd1 |
T |
C |
18: 63,083,150 (GRCm39) |
Y327H |
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,544,553 (GRCm39) |
|
probably benign |
Het |
Birc6 |
C |
A |
17: 74,969,827 (GRCm39) |
|
probably benign |
Het |
Btaf1 |
T |
A |
19: 36,987,048 (GRCm39) |
L1714* |
probably null |
Het |
Cacng6 |
T |
A |
7: 3,473,520 (GRCm39) |
|
probably benign |
Het |
Cdc20b |
A |
G |
13: 113,215,146 (GRCm39) |
D238G |
probably damaging |
Het |
Celf5 |
T |
A |
10: 81,306,532 (GRCm39) |
R113W |
probably null |
Het |
Cfap251 |
T |
C |
5: 123,421,510 (GRCm39) |
V182A |
probably damaging |
Het |
Cfap70 |
C |
A |
14: 20,462,415 (GRCm39) |
E659D |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,484,391 (GRCm39) |
M1183K |
possibly damaging |
Het |
Dpy19l1 |
G |
A |
9: 24,365,187 (GRCm39) |
R275C |
probably damaging |
Het |
Dst |
C |
T |
1: 34,226,016 (GRCm39) |
S1721L |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,191 (GRCm39) |
T562A |
probably damaging |
Het |
Fam168b |
T |
C |
1: 34,858,769 (GRCm39) |
M133V |
probably damaging |
Het |
Farp2 |
T |
C |
1: 93,496,809 (GRCm39) |
I172T |
probably damaging |
Het |
Fer |
T |
G |
17: 64,203,273 (GRCm39) |
S68A |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,552,997 (GRCm39) |
E315G |
probably damaging |
Het |
Gpr89 |
A |
T |
3: 96,778,796 (GRCm39) |
F426I |
probably damaging |
Het |
Hinfp |
T |
C |
9: 44,207,624 (GRCm39) |
I461V |
possibly damaging |
Het |
Hsd11b1 |
A |
T |
1: 192,922,556 (GRCm39) |
V167D |
probably damaging |
Het |
Htt |
A |
G |
5: 35,054,252 (GRCm39) |
K2574E |
probably benign |
Het |
I830077J02Rik |
A |
G |
3: 105,833,821 (GRCm39) |
S112P |
probably benign |
Het |
Igf2bp3 |
T |
A |
6: 49,082,551 (GRCm39) |
M344L |
probably benign |
Het |
Itch |
A |
T |
2: 155,044,177 (GRCm39) |
Q494L |
probably benign |
Het |
Itga9 |
T |
C |
9: 118,598,321 (GRCm39) |
|
probably benign |
Het |
Jaml |
T |
A |
9: 45,005,065 (GRCm39) |
D152E |
probably benign |
Het |
Kif22 |
A |
C |
7: 126,641,572 (GRCm39) |
M1R |
probably null |
Het |
Kifap3 |
T |
C |
1: 163,710,955 (GRCm39) |
Y663H |
probably benign |
Het |
Letm2 |
T |
A |
8: 26,068,786 (GRCm39) |
N472I |
probably damaging |
Het |
Mthfr |
T |
G |
4: 148,136,681 (GRCm39) |
V446G |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,029,124 (GRCm39) |
E1206G |
possibly damaging |
Het |
Myo6 |
G |
A |
9: 80,195,338 (GRCm39) |
V903I |
probably damaging |
Het |
Myo9b |
C |
T |
8: 71,807,869 (GRCm39) |
|
probably benign |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Nsd3 |
A |
G |
8: 26,173,273 (GRCm39) |
N859S |
probably benign |
Het |
Nucb2 |
C |
A |
7: 116,135,245 (GRCm39) |
A384E |
probably damaging |
Het |
Ogdhl |
C |
A |
14: 32,063,994 (GRCm39) |
|
probably null |
Het |
Or10al3 |
C |
A |
17: 38,011,949 (GRCm39) |
C129* |
probably null |
Het |
Or1e22 |
A |
T |
11: 73,377,401 (GRCm39) |
L83Q |
probably benign |
Het |
Or1i2 |
T |
C |
10: 78,447,705 (GRCm39) |
T257A |
probably benign |
Het |
Or4a74 |
G |
A |
2: 89,440,207 (GRCm39) |
L80F |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Parp10 |
C |
T |
15: 76,126,833 (GRCm39) |
S145N |
probably benign |
Het |
Pigh |
A |
G |
12: 79,130,483 (GRCm39) |
|
probably benign |
Het |
Pigo |
A |
G |
4: 43,023,824 (GRCm39) |
|
probably benign |
Het |
Pkp4 |
T |
A |
2: 59,135,832 (GRCm39) |
V199D |
possibly damaging |
Het |
Polr1e |
C |
A |
4: 45,025,143 (GRCm39) |
|
probably null |
Het |
Ppfia3 |
C |
A |
7: 44,997,958 (GRCm39) |
R723L |
probably damaging |
Het |
Prex1 |
C |
A |
2: 166,427,818 (GRCm39) |
A945S |
possibly damaging |
Het |
Prrt3 |
A |
T |
6: 113,472,801 (GRCm39) |
V457E |
probably damaging |
Het |
Rab39 |
A |
G |
9: 53,617,271 (GRCm39) |
F49L |
possibly damaging |
Het |
Rrs1 |
C |
A |
1: 9,615,987 (GRCm39) |
|
probably null |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Serpinb3c |
T |
C |
1: 107,204,722 (GRCm39) |
D8G |
probably benign |
Het |
Slc17a6 |
A |
G |
7: 51,295,928 (GRCm39) |
|
probably benign |
Het |
Slc24a4 |
T |
A |
12: 102,195,210 (GRCm39) |
|
probably null |
Het |
Smc6 |
T |
C |
12: 11,333,179 (GRCm39) |
|
probably benign |
Het |
Tcf20 |
T |
C |
15: 82,739,286 (GRCm39) |
T722A |
probably benign |
Het |
Tesmin |
A |
T |
19: 3,454,088 (GRCm39) |
M141L |
probably benign |
Het |
Tmprss5 |
T |
A |
9: 49,024,460 (GRCm39) |
H274Q |
possibly damaging |
Het |
Tns1 |
C |
T |
1: 73,976,477 (GRCm39) |
|
probably null |
Het |
Tpr |
T |
C |
1: 150,293,178 (GRCm39) |
S868P |
possibly damaging |
Het |
Trank1 |
C |
T |
9: 111,195,321 (GRCm39) |
T1115I |
probably damaging |
Het |
Trmt44 |
A |
T |
5: 35,730,261 (GRCm39) |
I203K |
possibly damaging |
Het |
Ulk2 |
A |
T |
11: 61,668,611 (GRCm39) |
V1037E |
probably benign |
Het |
Usp43 |
A |
G |
11: 67,767,325 (GRCm39) |
Y682H |
probably damaging |
Het |
Vipr2 |
A |
T |
12: 116,106,502 (GRCm39) |
Q366L |
probably damaging |
Het |
Vmn1r185 |
C |
A |
7: 26,311,014 (GRCm39) |
V164L |
possibly damaging |
Het |
Vmn2r120 |
C |
T |
17: 57,832,052 (GRCm39) |
V246I |
probably benign |
Het |
Wiz |
C |
T |
17: 32,576,007 (GRCm39) |
G790R |
probably damaging |
Het |
Wnk1 |
A |
T |
6: 119,929,694 (GRCm39) |
S1016R |
probably damaging |
Het |
Zc3hav1 |
A |
G |
6: 38,288,109 (GRCm39) |
L909S |
probably benign |
Het |
Zfp236 |
T |
A |
18: 82,658,352 (GRCm39) |
I637F |
probably damaging |
Het |
Zfp788 |
G |
A |
7: 41,299,020 (GRCm39) |
G532D |
probably damaging |
Het |
Zranb1 |
T |
C |
7: 132,552,114 (GRCm39) |
I255T |
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 |
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 |
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'- GCTATTCAGCTCTCCCTTCTTGcaat -3'
(R):5'- GCTTAACCGTGTGCTCTGTACCTT -3'
Sequencing Primer
(F):5'- gaaatctgcctacctctgcc -3'
(R):5'- GCCCTATCCATGTATAGGCAG -3'
|
Posted On |
2013-05-09 |