Incidental Mutation 'R5895:Gmcl1'
| ID |
457445 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmcl1
|
| Ensembl Gene |
ENSMUSG00000001157 |
| Gene Name |
germ cell-less, spermatogenesis associated 1 |
| Synonyms |
mglc-1, Gcl, 2810049L19Rik, Btbd13 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.423)
|
| Stock # |
R5895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86688596 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 301
(D301E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001185]
|
| AlphaFold |
Q920G9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001185
AA Change: D301E
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: D301E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
BTB
|
106 |
206 |
3.76e-11 |
SMART |
|
BACK
|
211 |
298 |
3.6e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203741
|
| Meta Mutation Damage Score |
0.0914 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.7%
|
| Validation Efficiency |
98% (64/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear envelope protein that appears to be involved in spermatogenesis, either directly or by influencing genes that play a more direct role in the process. This multi-exon locus is the homolog of the mouse and drosophila germ cell-less gene but the human genome also contains a single-exon locus on chromosome 5 that contains an open reading frame capable of encoding a highly-related protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired nuclear membrane integrity in liver, endocrine pancreas, and testis. Mutant males show reduced fertility with decreased chromatin condensation and morphologically abnormal sperm. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
G |
A |
5: 8,752,216 (GRCm39) |
G426S |
probably damaging |
Het |
| Casp4 |
A |
T |
9: 5,328,573 (GRCm39) |
|
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,144,229 (GRCm39) |
F988Y |
probably damaging |
Het |
| Ccdc9b |
T |
C |
2: 118,590,098 (GRCm39) |
T249A |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,464,389 (GRCm39) |
V1516E |
probably benign |
Het |
| Chrnd |
T |
A |
1: 87,123,389 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
A |
9: 20,683,738 (GRCm39) |
G1506V |
unknown |
Het |
| Csgalnact2 |
A |
T |
6: 118,106,215 (GRCm39) |
C34* |
probably null |
Het |
| Ddx23 |
T |
C |
15: 98,549,832 (GRCm39) |
K195E |
probably benign |
Het |
| Dhps |
T |
G |
8: 85,800,880 (GRCm39) |
S240A |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,234,599 (GRCm39) |
|
probably null |
Het |
| Dock10 |
T |
C |
1: 80,514,676 (GRCm39) |
T1414A |
probably benign |
Het |
| Dock4 |
A |
G |
12: 40,805,812 (GRCm39) |
D928G |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,285,658 (GRCm39) |
|
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,601 (GRCm39) |
I830F |
probably damaging |
Het |
| Elmod1 |
C |
T |
9: 53,843,091 (GRCm39) |
R29Q |
probably damaging |
Het |
| Ephx4 |
T |
A |
5: 107,577,518 (GRCm39) |
|
probably null |
Het |
| Evi5 |
A |
T |
5: 107,968,302 (GRCm39) |
M215K |
probably damaging |
Het |
| Fbxl4 |
T |
C |
4: 22,390,678 (GRCm39) |
L287P |
probably damaging |
Het |
| Gbp9 |
G |
A |
5: 105,230,724 (GRCm39) |
S400L |
probably damaging |
Het |
| Gm6291 |
T |
C |
18: 6,371,365 (GRCm39) |
|
noncoding transcript |
Het |
| Gna14 |
C |
T |
19: 16,580,692 (GRCm39) |
R177C |
possibly damaging |
Het |
| Golph3 |
C |
T |
15: 12,339,756 (GRCm39) |
R90C |
probably damaging |
Het |
| Gpr142 |
T |
A |
11: 114,689,785 (GRCm39) |
C12* |
probably null |
Het |
| Hat1 |
T |
A |
2: 71,239,357 (GRCm39) |
N43K |
possibly damaging |
Het |
| Hivep1 |
A |
T |
13: 42,310,694 (GRCm39) |
E978V |
possibly damaging |
Het |
| Hormad1 |
G |
A |
3: 95,467,044 (GRCm39) |
|
probably null |
Het |
| Kalrn |
C |
T |
16: 33,795,805 (GRCm39) |
|
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,132,418 (GRCm39) |
T860A |
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,695,400 (GRCm39) |
L1146F |
probably damaging |
Het |
| Met |
A |
G |
6: 17,531,581 (GRCm39) |
T620A |
probably benign |
Het |
| Mppe1 |
T |
C |
18: 67,358,834 (GRCm39) |
E378G |
probably benign |
Het |
| Mybpc3 |
T |
A |
2: 90,955,010 (GRCm39) |
V481D |
probably damaging |
Het |
| Myh14 |
A |
T |
7: 44,256,133 (GRCm39) |
L1924Q |
probably damaging |
Het |
| Mylip |
G |
T |
13: 45,562,178 (GRCm39) |
E327* |
probably null |
Het |
| Naip1 |
C |
T |
13: 100,559,636 (GRCm39) |
G1123R |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,452,500 (GRCm39) |
V187A |
possibly damaging |
Het |
| Ncam1 |
T |
A |
9: 49,418,343 (GRCm39) |
T986S |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,314 (GRCm39) |
I112V |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,800 (GRCm39) |
I265T |
probably benign |
Het |
| Phactr2 |
C |
T |
10: 13,121,261 (GRCm39) |
G480S |
probably damaging |
Het |
| Por |
A |
G |
5: 135,744,838 (GRCm39) |
I34V |
probably benign |
Het |
| Ppp2r5b |
C |
T |
19: 6,284,764 (GRCm39) |
R33H |
probably damaging |
Het |
| Prkdc |
C |
A |
16: 15,570,693 (GRCm39) |
Y2325* |
probably null |
Het |
| Prx |
A |
G |
7: 27,214,709 (GRCm39) |
E73G |
probably damaging |
Het |
| Rbms2 |
C |
A |
10: 127,981,556 (GRCm39) |
A126S |
possibly damaging |
Het |
| Rhoq |
C |
T |
17: 87,302,117 (GRCm39) |
A111V |
probably damaging |
Het |
| Rpl14 |
T |
A |
9: 120,403,240 (GRCm39) |
|
probably benign |
Het |
| Serbp1 |
A |
G |
6: 67,249,870 (GRCm39) |
*75W |
probably null |
Het |
| Sptbn1 |
C |
A |
11: 30,073,978 (GRCm39) |
V1351F |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,401,979 (GRCm39) |
V897A |
probably benign |
Het |
| Tfdp1 |
T |
A |
8: 13,407,038 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,780,487 (GRCm39) |
Y1088F |
probably damaging |
Het |
| Vmn2r105 |
G |
T |
17: 20,448,929 (GRCm39) |
Q83K |
probably benign |
Het |
| Wdr76 |
A |
T |
2: 121,359,323 (GRCm39) |
S221C |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,303,348 (GRCm39) |
F1545L |
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,709,959 (GRCm39) |
I561V |
probably damaging |
Het |
|
| Other mutations in Gmcl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02015:Gmcl1
|
APN |
6 |
86,684,439 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL03354:Gmcl1
|
APN |
6 |
86,703,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Gmcl1
|
UTSW |
6 |
86,681,520 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0149:Gmcl1
|
UTSW |
6 |
86,709,891 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1398:Gmcl1
|
UTSW |
6 |
86,691,244 (GRCm39) |
splice site |
probably benign |
|
|
R1869:Gmcl1
|
UTSW |
6 |
86,674,498 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1871:Gmcl1
|
UTSW |
6 |
86,674,498 (GRCm39) |
missense |
probably benign |
0.20 |
|
R2851:Gmcl1
|
UTSW |
6 |
86,703,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4584:Gmcl1
|
UTSW |
6 |
86,699,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Gmcl1
|
UTSW |
6 |
86,699,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4664:Gmcl1
|
UTSW |
6 |
86,709,980 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4851:Gmcl1
|
UTSW |
6 |
86,681,538 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4957:Gmcl1
|
UTSW |
6 |
86,687,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5326:Gmcl1
|
UTSW |
6 |
86,703,127 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5482:Gmcl1
|
UTSW |
6 |
86,695,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5496:Gmcl1
|
UTSW |
6 |
86,674,507 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5817:Gmcl1
|
UTSW |
6 |
86,691,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5854:Gmcl1
|
UTSW |
6 |
86,691,241 (GRCm39) |
splice site |
silent |
|
|
R5891:Gmcl1
|
UTSW |
6 |
86,684,425 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6012:Gmcl1
|
UTSW |
6 |
86,698,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Gmcl1
|
UTSW |
6 |
86,677,623 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7693:Gmcl1
|
UTSW |
6 |
86,691,239 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7698:Gmcl1
|
UTSW |
6 |
86,684,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7999:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8109:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8110:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8111:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8157:Gmcl1
|
UTSW |
6 |
86,698,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Gmcl1
|
UTSW |
6 |
86,698,381 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8250:Gmcl1
|
UTSW |
6 |
86,698,384 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8509:Gmcl1
|
UTSW |
6 |
86,699,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Gmcl1
|
UTSW |
6 |
86,691,195 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9308:Gmcl1
|
UTSW |
6 |
86,691,239 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9350:Gmcl1
|
UTSW |
6 |
86,677,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGAGGTAGGAAATTGCTC -3'
(R):5'- AAACTTTCTTGCAGCTGCTTG -3'
Sequencing Primer
(F):5'- CTGAGGTAGGAAATTGCTCAATTG -3'
(R):5'- GTTGTGGTGACTCCCAACCATAAAG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation