Incidental Mutation 'R4905:Smc1b'
ID |
378136 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Smc1b
|
Ensembl Gene |
ENSMUSG00000022432 |
Gene Name |
structural maintenance of chromosomes 1B |
Synonyms |
Smc1l2, SMC1beta |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.696)
|
Stock # |
R4905 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
84948890-85016158 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84950428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 1199
(Y1199H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023068]
[ENSMUST00000023069]
[ENSMUST00000227591]
[ENSMUST00000229203]
|
AlphaFold |
Q920F6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023068
AA Change: Y1199H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023068 Gene: ENSMUSG00000022432 AA Change: Y1199H
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229691
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.5%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
T |
10: 100,448,680 (GRCm39) |
|
probably null |
Het |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abcc5 |
A |
G |
16: 20,218,678 (GRCm39) |
S235P |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,644,649 (GRCm39) |
N842S |
probably benign |
Het |
Acbd6 |
G |
A |
1: 155,500,669 (GRCm39) |
V210I |
probably benign |
Het |
Ahctf1 |
A |
T |
1: 179,576,192 (GRCm39) |
V2130D |
probably damaging |
Het |
Akap5 |
A |
G |
12: 76,375,207 (GRCm39) |
E213G |
probably damaging |
Het |
Alyref |
T |
G |
11: 120,486,879 (GRCm39) |
|
probably null |
Het |
Anapc5 |
G |
T |
5: 122,955,973 (GRCm39) |
N152K |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,856,315 (GRCm39) |
D416E |
probably benign |
Het |
AW551984 |
A |
T |
9: 39,508,454 (GRCm39) |
V354E |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,364,162 (GRCm39) |
E844G |
probably damaging |
Het |
Bmp1 |
C |
T |
14: 70,728,802 (GRCm39) |
R590H |
probably benign |
Het |
Ccnh |
T |
C |
13: 85,354,254 (GRCm39) |
S233P |
possibly damaging |
Het |
Cdca7 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA |
2: 72,312,205 (GRCm39) |
|
probably benign |
Het |
Col6a6 |
A |
G |
9: 105,644,623 (GRCm39) |
S1222P |
probably damaging |
Het |
Dhfr |
G |
A |
13: 92,502,282 (GRCm39) |
G118S |
probably damaging |
Het |
Dnah9 |
G |
A |
11: 65,764,950 (GRCm39) |
R1414* |
probably null |
Het |
Dnai1 |
A |
G |
4: 41,614,269 (GRCm39) |
D315G |
probably benign |
Het |
Eogt |
T |
C |
6: 97,119,792 (GRCm39) |
R139G |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,856,408 (GRCm39) |
K2065M |
possibly damaging |
Het |
Fh1 |
C |
T |
1: 175,446,639 (GRCm39) |
G79E |
probably damaging |
Het |
Gabrg3 |
A |
G |
7: 56,374,304 (GRCm39) |
Y421H |
probably damaging |
Het |
Glipr1 |
C |
A |
10: 111,821,545 (GRCm39) |
R219L |
probably damaging |
Het |
Gm1123 |
T |
C |
9: 98,891,369 (GRCm39) |
D360G |
probably benign |
Het |
Ift81 |
C |
T |
5: 122,729,142 (GRCm39) |
|
probably null |
Het |
Itsn2 |
A |
G |
12: 4,684,583 (GRCm39) |
|
probably benign |
Het |
Kri1 |
A |
T |
9: 21,198,998 (GRCm39) |
H55Q |
probably benign |
Het |
Mcidas |
C |
T |
13: 113,134,038 (GRCm39) |
T174M |
possibly damaging |
Het |
Mcidas |
C |
A |
13: 113,130,951 (GRCm39) |
A92E |
possibly damaging |
Het |
Mmp25 |
C |
A |
17: 23,863,022 (GRCm39) |
G130* |
probably null |
Het |
Myh11 |
G |
A |
16: 14,068,387 (GRCm39) |
T211M |
probably benign |
Het |
Myo10 |
A |
G |
15: 25,800,298 (GRCm39) |
D1458G |
probably damaging |
Het |
Ncf4 |
A |
G |
15: 78,139,104 (GRCm39) |
T154A |
probably damaging |
Het |
Nfatc4 |
T |
C |
14: 56,068,039 (GRCm39) |
I620T |
probably benign |
Het |
Nos3 |
A |
T |
5: 24,572,329 (GRCm39) |
Y134F |
probably benign |
Het |
Nup50l |
T |
A |
6: 96,142,911 (GRCm39) |
R44S |
possibly damaging |
Het |
Or13c3 |
T |
C |
4: 52,855,613 (GRCm39) |
N300S |
probably damaging |
Het |
Or51a6 |
A |
T |
7: 102,604,721 (GRCm39) |
I36N |
probably damaging |
Het |
Or5b106 |
C |
A |
19: 13,123,541 (GRCm39) |
A161S |
probably benign |
Het |
Or6c209 |
T |
A |
10: 129,483,792 (GRCm39) |
V265E |
possibly damaging |
Het |
Pax9 |
G |
T |
12: 56,743,411 (GRCm39) |
R19S |
probably damaging |
Het |
Pcdha9 |
T |
C |
18: 37,131,945 (GRCm39) |
I338T |
probably damaging |
Het |
Plxnb2 |
G |
T |
15: 89,041,614 (GRCm39) |
T1730K |
probably damaging |
Het |
Rac1 |
A |
G |
5: 143,502,907 (GRCm39) |
|
probably null |
Het |
Samsn1 |
G |
T |
16: 75,673,353 (GRCm39) |
F174L |
possibly damaging |
Het |
Scaf1 |
G |
A |
7: 44,662,129 (GRCm39) |
T86M |
probably damaging |
Het |
Svep1 |
A |
G |
4: 58,069,308 (GRCm39) |
I2826T |
probably benign |
Het |
Tex36 |
A |
G |
7: 133,189,182 (GRCm39) |
V130A |
probably damaging |
Het |
Tigd5 |
A |
G |
15: 75,783,252 (GRCm39) |
H538R |
probably damaging |
Het |
Tlr3 |
C |
A |
8: 45,852,260 (GRCm39) |
|
probably null |
Het |
Tubb2b |
A |
T |
13: 34,312,187 (GRCm39) |
I202N |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,587,674 (GRCm39) |
V1453A |
probably benign |
Het |
Unc5c |
A |
T |
3: 141,507,071 (GRCm39) |
T608S |
probably benign |
Het |
Vrk1 |
C |
A |
12: 106,018,087 (GRCm39) |
H119N |
probably damaging |
Het |
Wdr53 |
T |
A |
16: 32,075,476 (GRCm39) |
M227K |
probably benign |
Het |
Xpo4 |
T |
C |
14: 57,875,746 (GRCm39) |
D129G |
possibly damaging |
Het |
Zcchc4 |
T |
C |
5: 52,953,992 (GRCm39) |
I224T |
probably damaging |
Het |
Zdhhc1 |
T |
A |
8: 106,210,326 (GRCm39) |
E30D |
probably damaging |
Het |
Zscan29 |
C |
G |
2: 120,991,864 (GRCm39) |
R540T |
possibly 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 |
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'- ACACATATTTACTCGTGTGTGGGG -3'
(R):5'- TTGTTCCCAGAGCCCAAAGG -3'
Sequencing Primer
(F):5'- ACGTGGGTCTCAGTGATCAAACTC -3'
(R):5'- AGCCCAAAGGAGGCCTTG -3'
|
Posted On |
2016-04-15 |