Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01637:Gabrg1'

93070

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gabrg1

Ensembl Gene

ENSMUSG00000001260

Gene Name

gamma-aminobutyric acid type A receptor subunit gamma 1

Synonyms

GabaA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

70908390-70999960 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70934548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 277 (T277S)

Ref Sequence

ENSEMBL: ENSMUSP00000031119 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031119] [ENSMUST00000199705]

AlphaFold

Q9R0Y8

Predicted Effect

probably damaging
Transcript: ENSMUST00000031119
AA Change: T277S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031119
Gene: ENSMUSG00000001260
AA Change: T277S

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	40	46	N/A	INTRINSIC
Pfam:Neur_chan_LBD	64	270	7e-51	PFAM
Pfam:Neur_chan_memb	277	378	2.3e-36	PFAM
low complexity region	411	422	N/A	INTRINSIC
transmembrane domain	441	463	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197068

Predicted Effect

probably damaging
Transcript: ENSMUST00000199705
AA Change: T272S

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142454
Gene: ENSMUSG00000001260
AA Change: T272S

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
low complexity region	35	41	N/A	INTRINSIC
Pfam:Neur_chan_LBD	59	265	1.7e-50	PFAM
Pfam:Neur_chan_memb	272	304	9.5e-12	PFAM
low complexity region	365	376	N/A	INTRINSIC
transmembrane domain	395	417	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,604,109 (GRCm39)	I384N	probably damaging	Het
Adsl	G	T	15: 80,832,901 (GRCm39)	Q51H	probably null	Het
Apcdd1	A	G	18: 63,070,357 (GRCm39)	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,394,580 (GRCm39)	R155*	probably null	Het
Atp9b	T	C	18: 80,799,670 (GRCm39)	E823G	probably benign	Het
Bmp1	A	G	14: 70,729,901 (GRCm39)	W468R	probably damaging	Het
C6	A	G	15: 4,789,399 (GRCm39)	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,824,078 (GRCm39)	T1392A	probably benign	Het
Dhx34	G	T	7: 15,939,398 (GRCm39)	S665Y	probably damaging	Het
Dock1	A	T	7: 134,739,542 (GRCm39)		probably null	Het
Dpp7	T	C	2: 25,244,625 (GRCm39)	N252S	probably benign	Het
Dyrk2	A	G	10: 118,696,412 (GRCm39)	V282A	probably damaging	Het
Edrf1	T	C	7: 133,252,254 (GRCm39)	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724 (GRCm39)	V150A	probably benign	Het
Fam170a	A	T	18: 50,414,734 (GRCm39)	M127L	possibly damaging	Het
Galntl5	T	C	5: 25,394,823 (GRCm39)		probably benign	Het
Gbp2b	A	G	3: 142,304,073 (GRCm39)	N56S	probably damaging	Het
Gfm2	T	A	13: 97,286,917 (GRCm39)	V172E	probably damaging	Het
Gm10419	T	C	5: 108,520,224 (GRCm39)		probably benign	Het
Gm7293	A	G	9: 51,534,906 (GRCm39)		noncoding transcript	Het
Gstm3	T	C	3: 107,874,949 (GRCm39)	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,413,856 (GRCm39)	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,231,353 (GRCm39)		probably benign	Het
Ighv7-1	T	A	12: 113,860,123 (GRCm39)	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,346,409 (GRCm39)	L1009P	probably damaging	Het
Kif1a	A	G	1: 92,967,575 (GRCm39)	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,081,237 (GRCm39)	D232E	possibly damaging	Het
Klb	G	A	5: 65,533,022 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,051,489 (GRCm39)	A421V	probably benign	Het
Mdga1	G	A	17: 30,058,845 (GRCm39)	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,199,739 (GRCm39)		probably benign	Het
Myo18b	T	A	5: 112,988,495 (GRCm39)	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,437,946 (GRCm39)	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,440,204 (GRCm39)	L594I	probably damaging	Het
Notch2	C	T	3: 98,053,376 (GRCm39)	T2013I	probably damaging	Het
Or2ah1	A	T	2: 85,653,332 (GRCm39)	T6S	probably benign	Het
Or2y3	G	A	17: 38,392,994 (GRCm39)	L292F	possibly damaging	Het
Or52s1	C	A	7: 102,861,384 (GRCm39)	R95S	probably benign	Het
Or6c216	A	G	10: 129,678,479 (GRCm39)	L144P	probably benign	Het
Or7g27	T	C	9: 19,250,260 (GRCm39)	F168S	probably damaging	Het
Panx3	T	C	9: 37,575,352 (GRCm39)	D170G	probably damaging	Het
Pclo	A	G	5: 14,590,048 (GRCm39)	S783G	unknown	Het
Pde3b	T	A	7: 114,126,136 (GRCm39)	L790*	probably null	Het
Pik3r2	T	C	8: 71,224,992 (GRCm39)		probably benign	Het
Rassf4	A	G	6: 116,618,651 (GRCm39)	F211L	probably damaging	Het
Rbl2	C	T	8: 91,833,066 (GRCm39)	P666S	probably benign	Het
Rnf123	A	G	9: 107,935,437 (GRCm39)	F979L	probably damaging	Het
Rock2	T	A	12: 17,015,172 (GRCm39)	D788E	probably benign	Het
Serpina3b	A	G	12: 104,099,216 (GRCm39)	T244A	probably benign	Het
Setd1b	T	C	5: 123,286,576 (GRCm39)	S541P	unknown	Het
Slc12a4	T	C	8: 106,687,339 (GRCm39)	D60G	possibly damaging	Het
Stac2	T	C	11: 97,932,180 (GRCm39)	E241G	probably benign	Het
Tafa3	C	T	3: 104,680,395 (GRCm39)	V75M	probably damaging	Het
Tas2r115	A	G	6: 132,714,592 (GRCm39)	Y120H	probably damaging	Het
Tmtc2	A	T	10: 105,205,946 (GRCm39)	F450I	probably benign	Het
Txnl1	A	T	18: 63,807,262 (GRCm39)	I198N	probably damaging	Het
Ubr2	A	T	17: 47,267,580 (GRCm39)	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,287,759 (GRCm39)	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066 (GRCm39)	T3623I	probably damaging	Het
Usp13	T	A	3: 32,973,213 (GRCm39)	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,402,373 (GRCm39)	T203S	probably damaging	Het
Vwf	T	A	6: 125,622,699 (GRCm39)	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,732 (GRCm39)	H676R	probably benign	Het

Other mutations in Gabrg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00715:Gabrg1	APN	5	70,973,298 (GRCm39)	critical splice donor site	probably null
IGL00798:Gabrg1	APN	5	70,939,626 (GRCm39)	missense	probably damaging	1.00
IGL01012:Gabrg1	APN	5	70,935,512 (GRCm39)	missense	probably benign	0.03
IGL01597:Gabrg1	APN	5	70,939,691 (GRCm39)	missense	probably damaging	1.00
IGL02589:Gabrg1	APN	5	70,999,495 (GRCm39)	nonsense	probably null
IGL03031:Gabrg1	APN	5	70,952,025 (GRCm39)	nonsense	probably null
IGL03346:Gabrg1	APN	5	70,935,474 (GRCm39)	missense	possibly damaging	0.89
PIT4260001:Gabrg1	UTSW	5	70,939,623 (GRCm39)	missense	probably benign	0.01
R0197:Gabrg1	UTSW	5	70,931,732 (GRCm39)	missense	probably damaging	1.00
R1271:Gabrg1	UTSW	5	70,934,487 (GRCm39)	missense	probably damaging	0.98
R1795:Gabrg1	UTSW	5	70,939,596 (GRCm39)	missense	possibly damaging	0.83
R1817:Gabrg1	UTSW	5	70,911,594 (GRCm39)	missense	probably benign	0.08
R1820:Gabrg1	UTSW	5	70,931,756 (GRCm39)	missense	probably damaging	1.00
R2254:Gabrg1	UTSW	5	70,939,707 (GRCm39)	nonsense	probably null
R4566:Gabrg1	UTSW	5	70,999,484 (GRCm39)	missense	probably benign	0.01
R4768:Gabrg1	UTSW	5	70,911,516 (GRCm39)	missense	probably damaging	0.99
R4976:Gabrg1	UTSW	5	70,931,754 (GRCm39)	missense	possibly damaging	0.95
R5104:Gabrg1	UTSW	5	70,931,775 (GRCm39)	missense	probably damaging	1.00
R6062:Gabrg1	UTSW	5	70,938,056 (GRCm39)	missense	probably damaging	1.00
R6086:Gabrg1	UTSW	5	70,911,396 (GRCm39)	missense	probably damaging	1.00
R6148:Gabrg1	UTSW	5	70,931,804 (GRCm39)	missense	probably damaging	1.00
R6234:Gabrg1	UTSW	5	70,999,484 (GRCm39)	missense	probably benign	0.01
R6724:Gabrg1	UTSW	5	70,911,552 (GRCm39)	missense	possibly damaging	0.80
R6786:Gabrg1	UTSW	5	70,911,610 (GRCm39)	missense	probably benign	0.00
R6794:Gabrg1	UTSW	5	70,973,314 (GRCm39)	missense	probably damaging	1.00
R7209:Gabrg1	UTSW	5	70,911,513 (GRCm39)	missense	probably damaging	0.98
R7654:Gabrg1	UTSW	5	70,935,504 (GRCm39)	missense	probably benign	0.44
R7671:Gabrg1	UTSW	5	70,973,323 (GRCm39)	missense	probably damaging	1.00
R7844:Gabrg1	UTSW	5	70,931,675 (GRCm39)	missense	probably damaging	1.00
R7877:Gabrg1	UTSW	5	70,973,415 (GRCm39)	missense	probably damaging	0.99
R8219:Gabrg1	UTSW	5	70,931,643 (GRCm39)	nonsense	probably null
R8998:Gabrg1	UTSW	5	70,973,378 (GRCm39)	missense	probably benign	0.01
R8999:Gabrg1	UTSW	5	70,973,378 (GRCm39)	missense	probably benign	0.01
R9132:Gabrg1	UTSW	5	70,939,622 (GRCm39)	missense	possibly damaging	0.90
R9279:Gabrg1	UTSW	5	70,934,599 (GRCm39)	missense	probably benign	0.00
R9358:Gabrg1	UTSW	5	70,935,422 (GRCm39)	missense	possibly damaging	0.93
R9483:Gabrg1	UTSW	5	70,999,558 (GRCm39)	missense	possibly damaging	0.74
R9506:Gabrg1	UTSW	5	70,939,713 (GRCm39)	missense	probably damaging	0.97
R9593:Gabrg1	UTSW	5	70,939,808 (GRCm39)	missense	probably damaging	1.00
R9747:Gabrg1	UTSW	5	70,938,029 (GRCm39)	missense	probably damaging	1.00
X0027:Gabrg1	UTSW	5	70,911,604 (GRCm39)	missense	probably benign	0.00

Posted On

2013-12-09