Incidental Mutation 'R8468:Gphn'
| ID |
656924 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gphn
|
| Ensembl Gene |
ENSMUSG00000047454 |
| Gene Name |
gephyrin |
| Synonyms |
5730552E08Rik, geph |
| MMRRC Submission |
067912-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8468 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
78273153-78731546 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78273601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 17
(V17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052472]
[ENSMUST00000110388]
|
| AlphaFold |
Q8BUV3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052472
AA Change: V17A
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454
AA Change: V17A
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
18 |
165 |
4.52e-27 |
SMART |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
Pfam:MoeA_N
|
356 |
522 |
5.6e-53 |
PFAM |
|
MoCF_biosynth
|
535 |
678 |
8.1e-38 |
SMART |
|
Pfam:MoeA_C
|
691 |
766 |
8.9e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110388
AA Change: V17A
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454
AA Change: V17A
| Domain | Start | End | E-Value | Type |
|---|
|
MoCF_biosynth
|
18 |
165 |
4.52e-27 |
SMART |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
Pfam:MoeA_N
|
360 |
525 |
2.1e-35 |
PFAM |
|
MoCF_biosynth
|
538 |
681 |
8.1e-38 |
SMART |
|
Pfam:MoeA_C
|
694 |
769 |
8.1e-26 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (36/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene die within one day of birth, apparently due to an inability to suckle. Apnea also develops within 12 hours of birth. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(11) : Targeted, knock-out(1) Gene trapped(10) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
| Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
| Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
| BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
| Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
| Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
| Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
| Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
| Gpr85 |
A |
T |
6: 13,836,295 (GRCm39) |
L203H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
| Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
| Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
| Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Miip |
G |
T |
4: 147,945,928 (GRCm39) |
D325E |
probably damaging |
Het |
| Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
| Nfxl1 |
C |
T |
5: 72,675,548 (GRCm39) |
R811K |
possibly damaging |
Het |
| Or12e10 |
T |
C |
2: 87,641,082 (GRCm39) |
I306T |
possibly damaging |
Het |
| Or2ag2b |
A |
G |
7: 106,418,046 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
| Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
| Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
| Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
| Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
| Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
| Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
| Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
| Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
| Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
| Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
probably benign |
Het |
|
| Other mutations in Gphn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Gphn
|
APN |
12 |
78,551,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00701:Gphn
|
APN |
12 |
78,672,941 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00844:Gphn
|
APN |
12 |
78,711,342 (GRCm39) |
splice site |
probably benign |
|
|
IGL01517:Gphn
|
APN |
12 |
78,423,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02499:Gphn
|
APN |
12 |
78,539,074 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02827:Gphn
|
APN |
12 |
78,655,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03136:Gphn
|
APN |
12 |
78,528,107 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL03348:Gphn
|
APN |
12 |
78,673,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03382:Gphn
|
APN |
12 |
78,528,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
grizzlies
|
UTSW |
12 |
78,701,654 (GRCm39) |
missense |
probably benign |
0.28 |
|
3-1:Gphn
|
UTSW |
12 |
78,659,775 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0054:Gphn
|
UTSW |
12 |
78,684,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0054:Gphn
|
UTSW |
12 |
78,684,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0212:Gphn
|
UTSW |
12 |
78,684,326 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0389:Gphn
|
UTSW |
12 |
78,637,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0535:Gphn
|
UTSW |
12 |
78,538,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1464:Gphn
|
UTSW |
12 |
78,659,738 (GRCm39) |
splice site |
probably benign |
|
|
R1503:Gphn
|
UTSW |
12 |
78,551,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1606:Gphn
|
UTSW |
12 |
78,730,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Gphn
|
UTSW |
12 |
78,459,128 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2248:Gphn
|
UTSW |
12 |
78,501,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3708:Gphn
|
UTSW |
12 |
78,579,467 (GRCm39) |
missense |
probably benign |
|
|
R3907:Gphn
|
UTSW |
12 |
78,540,716 (GRCm39) |
splice site |
probably benign |
|
|
R4537:Gphn
|
UTSW |
12 |
78,540,788 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4667:Gphn
|
UTSW |
12 |
78,501,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Gphn
|
UTSW |
12 |
78,701,654 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4840:Gphn
|
UTSW |
12 |
78,569,729 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4852:Gphn
|
UTSW |
12 |
78,673,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4854:Gphn
|
UTSW |
12 |
78,673,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4855:Gphn
|
UTSW |
12 |
78,673,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5083:Gphn
|
UTSW |
12 |
78,670,063 (GRCm39) |
splice site |
probably null |
|
|
R5224:Gphn
|
UTSW |
12 |
78,637,361 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5580:Gphn
|
UTSW |
12 |
78,538,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5626:Gphn
|
UTSW |
12 |
78,730,671 (GRCm39) |
missense |
probably benign |
0.11 |
|
R6270:Gphn
|
UTSW |
12 |
78,569,724 (GRCm39) |
missense |
probably benign |
|
|
R6563:Gphn
|
UTSW |
12 |
78,727,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6943:Gphn
|
UTSW |
12 |
78,538,955 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6958:Gphn
|
UTSW |
12 |
78,727,073 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7170:Gphn
|
UTSW |
12 |
78,730,663 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7295:Gphn
|
UTSW |
12 |
78,538,876 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7514:Gphn
|
UTSW |
12 |
78,672,939 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7537:Gphn
|
UTSW |
12 |
78,551,454 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7680:Gphn
|
UTSW |
12 |
78,459,148 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8236:Gphn
|
UTSW |
12 |
78,711,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8377:Gphn
|
UTSW |
12 |
78,711,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Gphn
|
UTSW |
12 |
78,659,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Gphn
|
UTSW |
12 |
78,659,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8832:Gphn
|
UTSW |
12 |
78,459,174 (GRCm39) |
synonymous |
silent |
|
|
R8845:Gphn
|
UTSW |
12 |
78,538,953 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8972:Gphn
|
UTSW |
12 |
78,656,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9254:Gphn
|
UTSW |
12 |
78,674,036 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9287:Gphn
|
UTSW |
12 |
78,609,646 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9355:Gphn
|
UTSW |
12 |
78,538,968 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9536:Gphn
|
UTSW |
12 |
78,609,636 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTCTCTTGCCATCCAGG -3'
(R):5'- CAGAGACTTTGGCTGCTAGG -3'
Sequencing Primer
(F):5'- TTGGGTCTCACTCCGCAGAG -3'
(R):5'- ACTTTGGCTGCTAGGGCTCC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation