Incidental Mutation 'R8509:Gmcl1'
ID |
655753 |
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 |
067944-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.426)
|
Stock # |
R8509 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
86668750-86710365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 86699589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 146
(I146S)
|
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: I146S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000001185 Gene: ENSMUSG00000001157 AA Change: I146S
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: I146S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000109309 Gene: ENSMUSG00000001157 AA Change: I146S
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (44/44) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110004F10Rik |
T |
C |
7: 115,703,669 (GRCm39) |
S181P |
possibly damaging |
Het |
Angpt2 |
G |
A |
8: 18,791,135 (GRCm39) |
R54* |
probably null |
Het |
Ano3 |
T |
C |
2: 110,496,180 (GRCm39) |
E858G |
possibly damaging |
Het |
Asrgl1 |
T |
C |
19: 9,091,590 (GRCm39) |
K244E |
probably damaging |
Het |
BC048679 |
T |
A |
7: 81,145,116 (GRCm39) |
T82S |
probably benign |
Het |
Brip1 |
A |
T |
11: 86,088,774 (GRCm39) |
C42* |
probably null |
Het |
Cabcoco1 |
T |
C |
10: 68,267,119 (GRCm39) |
E296G |
probably damaging |
Het |
Ccnb1ip1 |
T |
C |
14: 51,029,714 (GRCm39) |
N116S |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,695,876 (GRCm39) |
E214G |
probably benign |
Het |
Cyp11b1 |
A |
G |
15: 74,711,202 (GRCm39) |
F159L |
possibly damaging |
Het |
Dmxl2 |
C |
A |
9: 54,335,341 (GRCm39) |
E660* |
probably null |
Het |
Dnah14 |
C |
T |
1: 181,642,220 (GRCm39) |
T112M |
|
Het |
Fancd2 |
A |
G |
6: 113,549,531 (GRCm39) |
T74A |
probably benign |
Het |
Fat4 |
G |
T |
3: 39,036,052 (GRCm39) |
V3235L |
probably benign |
Het |
Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
Hbb-bs |
T |
A |
7: 103,475,919 (GRCm39) |
K133* |
probably null |
Het |
Hey1 |
G |
C |
3: 8,729,836 (GRCm39) |
A207G |
probably benign |
Het |
Hmcn1 |
T |
A |
1: 150,449,302 (GRCm39) |
K5446* |
probably null |
Het |
Hyal6 |
A |
T |
6: 24,734,605 (GRCm39) |
E179D |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,637,698 (GRCm39) |
|
probably null |
Het |
Lrba |
A |
G |
3: 86,255,483 (GRCm39) |
K942E |
probably benign |
Het |
Lrrcc1 |
A |
G |
3: 14,601,567 (GRCm39) |
N110S |
probably damaging |
Het |
Mcoln3 |
A |
G |
3: 145,830,647 (GRCm39) |
I126V |
probably benign |
Het |
Ncoa7 |
T |
C |
10: 30,572,048 (GRCm39) |
I242V |
probably benign |
Het |
Ndufb4 |
A |
G |
16: 37,469,506 (GRCm39) |
I66T |
probably benign |
Het |
Npffr2 |
T |
C |
5: 89,731,188 (GRCm39) |
S373P |
possibly damaging |
Het |
Or5d20-ps1 |
T |
C |
2: 87,931,866 (GRCm39) |
Y155C |
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,172,008 (GRCm39) |
I579N |
|
Het |
Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
Ripk2 |
T |
C |
4: 16,124,436 (GRCm39) |
E424G |
probably benign |
Het |
Rnf19b |
T |
A |
4: 128,967,369 (GRCm39) |
C304S |
probably damaging |
Het |
Rtp1 |
T |
C |
16: 23,248,064 (GRCm39) |
W46R |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,592,664 (GRCm39) |
|
probably null |
Het |
Sbf1 |
A |
T |
15: 89,177,660 (GRCm39) |
D1674E |
probably damaging |
Het |
Sgf29 |
T |
A |
7: 126,270,834 (GRCm39) |
|
probably benign |
Het |
Slc22a8 |
T |
C |
19: 8,585,339 (GRCm39) |
|
probably null |
Het |
Smg6 |
T |
C |
11: 74,932,702 (GRCm39) |
S998P |
probably benign |
Het |
Spata31h1 |
A |
G |
10: 82,126,950 (GRCm39) |
V2020A |
probably benign |
Het |
Srgap3 |
G |
A |
6: 112,708,297 (GRCm39) |
Q801* |
probably null |
Het |
Taf4b |
A |
G |
18: 15,031,112 (GRCm39) |
D832G |
probably damaging |
Het |
Trim12a |
T |
C |
7: 103,955,234 (GRCm39) |
D163G |
probably benign |
Het |
Trim46 |
A |
G |
3: 89,153,020 (GRCm39) |
|
probably null |
Het |
Trpm4 |
A |
G |
7: 44,971,785 (GRCm39) |
V274A |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,680,788 (GRCm39) |
D2128G |
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 |
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 |
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'- AGCGACTGACTGAACTCCTAG -3'
(R):5'- AGTTCACTCTACCTCATAATGGC -3'
Sequencing Primer
(F):5'- CTGACTGAACTCCTAGGACTAAATAG -3'
(R):5'- ACGTGTTTTGATGATCTTTTTCTCC -3'
|
Posted On |
2020-10-20 |