Incidental Mutation 'R8049:Gmcl1'
| ID |
618928 |
| 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 |
067486-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R8049 (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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| 2310034C09Rik |
A |
T |
16: 88,555,992 (GRCm39) |
T69S |
probably benign |
Het |
| 5730455P16Rik |
A |
G |
11: 80,268,798 (GRCm39) |
S4P |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,241,867 (GRCm39) |
N1243K |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,303,943 (GRCm39) |
S824T |
probably benign |
Het |
| Armh4 |
G |
T |
14: 50,010,993 (GRCm39) |
A238E |
probably damaging |
Het |
| C3ar1 |
T |
A |
6: 122,827,059 (GRCm39) |
Y386F |
probably damaging |
Het |
| Cdc14a |
T |
C |
3: 116,087,577 (GRCm39) |
N527S |
probably benign |
Het |
| Cfap69 |
A |
T |
5: 5,669,085 (GRCm39) |
|
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,804,631 (GRCm39) |
P2279S |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,683,252 (GRCm39) |
G918D |
probably benign |
Het |
| Dcn |
C |
A |
10: 97,349,479 (GRCm39) |
N250K |
probably damaging |
Het |
| Dctn5 |
G |
A |
7: 121,732,466 (GRCm39) |
|
probably benign |
Het |
| Ddx55 |
T |
C |
5: 124,694,821 (GRCm39) |
V83A |
probably damaging |
Het |
| Dnaja2 |
T |
A |
8: 86,265,876 (GRCm39) |
H403L |
possibly damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,303,982 (GRCm39) |
I143V |
probably benign |
Het |
| Efna5 |
G |
T |
17: 62,957,977 (GRCm39) |
T93K |
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,843,201 (GRCm39) |
V171A |
possibly damaging |
Het |
| Esyt1 |
C |
G |
10: 128,347,955 (GRCm39) |
V942L |
probably benign |
Het |
| Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
| Fam78a |
C |
A |
2: 31,973,035 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,202,892 (GRCm39) |
Y61H |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,105,211 (GRCm39) |
M318K |
probably damaging |
Het |
| Gm14295 |
A |
G |
2: 176,500,871 (GRCm39) |
I120M |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,311 (GRCm39) |
Y86N |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Gpr55 |
T |
C |
1: 85,869,419 (GRCm39) |
D54G |
probably benign |
Het |
| Gtf2b |
T |
G |
3: 142,483,975 (GRCm39) |
S50A |
probably damaging |
Het |
| Ifit3 |
A |
T |
19: 34,565,480 (GRCm39) |
E342V |
possibly damaging |
Het |
| Iqgap3 |
T |
A |
3: 88,011,609 (GRCm39) |
I798N |
probably damaging |
Het |
| Kplce |
A |
T |
3: 92,776,202 (GRCm39) |
Y160* |
probably null |
Het |
| Lpin1 |
T |
C |
12: 16,613,685 (GRCm39) |
D494G |
|
Het |
| Lsm12 |
T |
C |
11: 102,056,235 (GRCm39) |
E149G |
possibly damaging |
Het |
| Mtfr2 |
T |
C |
10: 20,228,603 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ndnf |
T |
C |
6: 65,680,414 (GRCm39) |
M231T |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,873 (GRCm39) |
V203E |
probably benign |
Het |
| Or1e27-ps1 |
G |
T |
11: 73,555,988 (GRCm39) |
K184N |
possibly damaging |
Het |
| Or52h2 |
C |
A |
7: 103,839,017 (GRCm39) |
L132F |
probably damaging |
Het |
| Or5c1 |
A |
T |
2: 37,222,346 (GRCm39) |
T196S |
probably damaging |
Het |
| Or9r7 |
A |
T |
10: 129,962,469 (GRCm39) |
Y152* |
probably null |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde6b |
C |
T |
5: 108,573,118 (GRCm39) |
P496L |
probably benign |
Het |
| Plppr1 |
A |
T |
4: 49,300,942 (GRCm39) |
M92L |
probably benign |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Ptprk |
C |
G |
10: 28,259,565 (GRCm39) |
S335C |
possibly damaging |
Het |
| Rars2 |
T |
A |
4: 34,650,217 (GRCm39) |
M334K |
probably benign |
Het |
| Rasl10a |
A |
T |
11: 5,009,823 (GRCm39) |
I124F |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,183,374 (GRCm39) |
V1007E |
possibly damaging |
Het |
| Rnf122 |
T |
A |
8: 31,618,608 (GRCm39) |
C119S |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,584,149 (GRCm39) |
I1489F |
probably damaging |
Het |
| Setd6 |
C |
A |
8: 96,443,316 (GRCm39) |
S186R |
probably benign |
Het |
| Tex19.1 |
A |
G |
11: 121,038,148 (GRCm39) |
T169A |
probably benign |
Het |
| Th |
G |
A |
7: 142,447,860 (GRCm39) |
P408S |
probably damaging |
Het |
| Trappc13 |
T |
C |
13: 104,281,052 (GRCm39) |
M337V |
probably benign |
Het |
| Treml2 |
A |
T |
17: 48,609,762 (GRCm39) |
K65* |
probably null |
Het |
| Ubxn4 |
T |
C |
1: 128,183,933 (GRCm39) |
S98P |
probably damaging |
Het |
| Wrnip1 |
A |
G |
13: 33,005,960 (GRCm39) |
S601G |
probably benign |
Het |
| Zfp1006 |
A |
T |
8: 129,946,555 (GRCm39) |
L90H |
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 |
|
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 |
|
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'- CTCCCATCCAGTTCACACAGTG -3'
(R):5'- GGCAGAATCCTTTCCAACAAGC -3'
Sequencing Primer
(F):5'- GTTCACACAGTGATCAAAGACCTTC -3'
(R):5'- AGGTGCAGACTAATGTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation