Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00844:Gphn'

12644

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gphn

Ensembl Gene

ENSMUSG00000047454

Gene Name

gephyrin

Synonyms

5730552E08Rik, geph

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00844

Quality Score

Status

Chromosome

Chromosomal Location

78273153-78731546 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 78711342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106018 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052472] [ENSMUST00000110388]

AlphaFold

Q8BUV3

Predicted Effect

probably benign
Transcript: ENSMUST00000052472

SMART Domains

Protein: ENSMUSP00000054064
Gene: ENSMUSG00000047454

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

SMART Domains

Protein: ENSMUSP00000106018
Gene: ENSMUSG00000047454

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

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,384,956 (GRCm39)	C336*	probably null	Het
Adgrv1	T	C	13: 81,688,238 (GRCm39)	D994G	probably damaging	Het
Arhgap36	G	T	X: 48,586,631 (GRCm39)	Q421H	probably damaging	Het
Arhgef17	A	G	7: 100,578,656 (GRCm39)	V764A	probably benign	Het
Atf7ip	T	C	6: 136,537,679 (GRCm39)	V304A	probably benign	Het
Babam2	T	A	5: 32,164,651 (GRCm39)	F299L	probably damaging	Het
Ceacam11	T	G	7: 17,707,595 (GRCm39)	D126E	possibly damaging	Het
Dlg3	C	A	X: 99,850,199 (GRCm39)	H197Q	probably damaging	Het
Dnmt3a	T	A	12: 3,955,622 (GRCm39)	L590Q	probably damaging	Het
Fras1	A	G	5: 96,682,712 (GRCm39)		probably benign	Het
Gabarapl1	T	C	6: 129,515,598 (GRCm39)	F79L	probably benign	Het
Gabbr2	A	G	4: 46,875,711 (GRCm39)	V137A	probably damaging	Het
Hnrnpr	A	G	4: 136,066,516 (GRCm39)	I399M	probably benign	Het
Madd	A	C	2: 90,998,213 (GRCm39)	S636A	probably damaging	Het
Pi15	T	C	1: 17,691,764 (GRCm39)		probably benign	Het
Ppp3cb	A	T	14: 20,581,754 (GRCm39)	M87K	possibly damaging	Het
Ptpro	C	A	6: 137,391,237 (GRCm39)	H786N	probably damaging	Het
Rnase11	T	C	14: 51,287,213 (GRCm39)	I114V	possibly damaging	Het
Sirt4	A	G	5: 115,617,685 (GRCm39)		probably null	Het
Stab1	T	C	14: 30,869,023 (GRCm39)	D1534G	probably damaging	Het
Sulf2	A	G	2: 165,936,412 (GRCm39)	S185P	possibly damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Tdrd6	A	G	17: 43,928,087 (GRCm39)	M2102T	probably benign	Het
Ttll5	T	C	12: 85,890,600 (GRCm39)	V77A	probably damaging	Het
Usp9x	T	G	X: 12,994,685 (GRCm39)	S959A	probably benign	Het
Vps50	C	T	6: 3,532,177 (GRCm39)	Q227*	probably null	Het
Zfp57	C	A	17: 37,320,514 (GRCm39)	Q120K	possibly damaging	Het
Zswim2	T	C	2: 83,754,115 (GRCm39)	N182D	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
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
R8468:Gphn	UTSW	12	78,273,601 (GRCm39)	missense	probably benign	0.22
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

Posted On

2012-12-06