Incidental Mutation 'R8109:Gmcl1'
| ID |
643865 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gmcl1
|
| Ensembl Gene |
ENSMUSG00000001157 |
| Gene Name |
germ cell-less, spermatogenesis associated 1 |
| Synonyms |
mglc-1, Gcl, 2810049L19Rik, Btbd13 |
| MMRRC Submission |
067538-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R8109 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86698408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 163
(A163E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001185
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001185]
[ENSMUST00000113679]
|
| AlphaFold |
Q920G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001185
AA Change: A163E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157
AA Change: A163E
| 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 |
probably damaging
Transcript: ENSMUST00000113679
AA Change: A163E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109309
Gene: ENSMUSG00000001157
AA Change: A163E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
75 |
N/A |
INTRINSIC |
|
Pfam:BTB
|
96 |
195 |
5.5e-12 |
PFAM |
|
| Meta Mutation Damage Score |
0.5268 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
98% (47/48) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,767,284 (GRCm39) |
V130A |
probably benign |
Het |
| Acte1 |
C |
T |
7: 143,451,203 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
A |
C |
15: 11,331,877 (GRCm39) |
K1465T |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,166,306 (GRCm39) |
V223A |
|
Het |
| Adamtsl3 |
T |
A |
7: 82,251,487 (GRCm39) |
I1494N |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,826,148 (GRCm39) |
Y1606H |
|
Het |
| Arhgap32 |
A |
G |
9: 32,093,150 (GRCm39) |
I168V |
probably benign |
Het |
| Atxn7l2 |
G |
A |
3: 108,110,617 (GRCm39) |
R675C |
probably damaging |
Het |
| Brcc3dc |
A |
G |
10: 108,535,520 (GRCm39) |
M145T |
probably damaging |
Het |
| Bst2 |
A |
T |
8: 71,989,990 (GRCm39) |
W28R |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,488,975 (GRCm38) |
T861S |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,709,243 (GRCm39) |
Y147C |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,740,588 (GRCm39) |
N1187K |
probably damaging |
Het |
| Dcaf7 |
T |
C |
11: 105,937,604 (GRCm39) |
W76R |
probably damaging |
Het |
| Ephb1 |
G |
A |
9: 101,918,222 (GRCm39) |
T429I |
probably damaging |
Het |
| Flg |
A |
T |
3: 93,197,734 (GRCm39) |
Q21L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,747,333 (GRCm39) |
V557A |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,581 (GRCm39) |
V204A |
probably damaging |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Jph2 |
T |
C |
2: 163,181,206 (GRCm39) |
K653E |
probably benign |
Het |
| Kmt2c |
T |
C |
5: 25,486,382 (GRCm39) |
S4724G |
probably damaging |
Het |
| Llgl2 |
T |
C |
11: 115,741,619 (GRCm39) |
V583A |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,236 (GRCm39) |
V1199A |
probably damaging |
Het |
| Mmp25 |
A |
G |
17: 23,863,768 (GRCm39) |
W21R |
probably benign |
Het |
| Nsun4 |
A |
T |
4: 115,909,040 (GRCm39) |
C507S |
probably benign |
Het |
| Or1j19 |
T |
A |
2: 36,676,618 (GRCm39) |
M27K |
probably benign |
Het |
| Pard6g |
T |
C |
18: 80,160,658 (GRCm39) |
V257A |
possibly damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,332,049 (GRCm39) |
V457A |
probably damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pdzd2 |
G |
A |
15: 12,373,592 (GRCm39) |
S2181L |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,941,891 (GRCm39) |
M164K |
possibly damaging |
Het |
| Rhobtb2 |
C |
A |
14: 70,038,080 (GRCm39) |
R60L |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,922,348 (GRCm39) |
I845L |
probably benign |
Het |
| Sdf4 |
C |
T |
4: 156,094,295 (GRCm39) |
A325V |
probably damaging |
Het |
| Slc4a3 |
A |
G |
1: 75,528,448 (GRCm39) |
D481G |
possibly damaging |
Het |
| Smo |
A |
G |
6: 29,755,522 (GRCm39) |
Y398C |
probably damaging |
Het |
| Sox18 |
A |
G |
2: 181,313,293 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,758,918 (GRCm39) |
S780T |
probably benign |
Het |
| Tdg |
T |
A |
10: 82,480,353 (GRCm39) |
V239E |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,137 (GRCm39) |
T2675A |
probably benign |
Het |
| Thrap3 |
C |
A |
4: 126,080,273 (GRCm39) |
R31L |
unknown |
Het |
| Tinagl1 |
T |
A |
4: 130,063,123 (GRCm39) |
I149F |
probably damaging |
Het |
| Tnc |
A |
G |
4: 63,927,000 (GRCm39) |
V842A |
probably benign |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,772 (GRCm39) |
D222G |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,846,781 (GRCm39) |
I773V |
probably benign |
Het |
| Vmn1r229 |
T |
C |
17: 21,035,268 (GRCm39) |
V171A |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,306,114 (GRCm39) |
E646G |
probably damaging |
Het |
| Zfp341 |
A |
T |
2: 154,469,820 (GRCm39) |
M168L |
probably benign |
Het |
| Zfp874a |
A |
C |
13: 67,597,563 (GRCm39) |
D13E |
possibly 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 |
|
R5895:Gmcl1
|
UTSW |
6 |
86,688,596 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
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'- CCCATCCAGTTCACACAGTG -3'
(R):5'- TGGCAGAATCCTTTCCAACAAG -3'
Sequencing Primer
(F):5'- GTTCACACAGTGATCAAAGACCTTC -3'
(R):5'- GCAGAATCCTTTCCAACAAGCAATG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation