Mutagenetix > Incidental Mutation

Incidental Mutation 'R9481:Gm7534'

716232

Institutional Source

Beutler Lab

Gene Symbol

Gm7534

Ensembl Gene

ENSMUSG00000073747

Gene Name

predicted gene 7534

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R9481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134190804-134203004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 134202001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 331 (P331L)

Ref Sequence

ENSEMBL: ENSMUSP00000095461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097849]

AlphaFold

Q3UU21

Predicted Effect

probably benign
Transcript: ENSMUST00000097849
AA Change: P331L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095461
Gene: ENSMUSG00000073747
AA Change: P331L

Domain	Start	End	E-Value	Type
low complexity region	1	16	N/A	INTRINSIC
internal_repeat_1	21	111	5.47e-40	PROSPERO
low complexity region	112	143	N/A	INTRINSIC
low complexity region	158	177	N/A	INTRINSIC
internal_repeat_1	181	271	5.47e-40	PROSPERO
low complexity region	322	334	N/A	INTRINSIC
ZP	368	618	3.21e-13	SMART
low complexity region	650	668	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,090,113	T22A	possibly damaging	Het
Acsf2	C	T	11: 94,573,218	V47M	probably benign	Het
Ahcyl1	A	T	3: 107,672,072	C215*	probably null	Het
Ambn	G	T	5: 88,465,191		probably null	Het
Apol9b	G	T	15: 77,735,456	V151L	probably benign	Het
Arid1b	A	G	17: 5,318,732	Y1070C	probably damaging	Het
Arnt	T	C	3: 95,483,781	L322P	possibly damaging	Het
Bdnf	A	G	2: 109,723,590	D103G	possibly damaging	Het
Ccdc9	A	T	7: 16,282,836	D42E	probably damaging	Het
Cdh13	A	G	8: 119,236,937	T419A		Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Clasp2	A	T	9: 113,841,601	R329W	probably damaging	Het
Csmd3	A	G	15: 47,607,063	C2495R		Het
Cyba	A	T	8: 122,427,655	I43N	possibly damaging	Het
Cyp2a5	A	C	7: 26,841,086	T375P	possibly damaging	Het
Cyp2r1	A	G	7: 114,553,134	F196S	probably damaging	Het
Efcab2	T	C	1: 178,481,322	F130S	probably damaging	Het
Eml6	T	G	11: 29,838,641		probably null	Het
Fbln5	A	T	12: 101,768,469	C181*	probably null	Het
Glyatl3	A	G	17: 40,910,125	V117A	probably benign	Het
Gpc6	A	G	14: 116,926,020	S29G	probably benign	Het
Hadhb	T	G	5: 30,163,713	S13A	probably benign	Het
Hook1	C	T	4: 96,013,268	R488C	probably damaging	Het
Icam5	A	G	9: 21,037,581	Y743C	probably damaging	Het
Il15ra	T	C	2: 11,720,043	V108A	probably benign	Het
Itga1	T	C	13: 115,016,217	N223S	probably benign	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,662,349		probably benign	Het
Kcnk1	T	C	8: 126,029,542	C268R	probably damaging	Het
Kctd19	A	T	8: 105,393,617	L264M	probably benign	Het
Kmt2c	A	T	5: 25,292,909	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,349,862	I1258K	probably benign	Het
Lyst	G	A	13: 13,683,068	E2481K	possibly damaging	Het
Megf10	T	A	18: 57,262,018	I484N	probably benign	Het
Mettl21e	T	C	1: 44,206,697	I130V	probably benign	Het
Nmnat2	C	A	1: 153,086,435	N140K	possibly damaging	Het
Nsmaf	T	C	4: 6,414,976	K630R	probably benign	Het
Olfr1138	A	T	2: 87,738,232	F31I	probably benign	Het
Olfr31	C	T	14: 14,328,756	S215L	probably benign	Het
Olfr885	G	T	9: 38,061,411	L30F	probably benign	Het
Olfr943	T	C	9: 39,184,876	S230P	possibly damaging	Het
Pafah1b2	G	A	9: 45,972,986	Q123*	probably null	Het
Ptprb	T	A	10: 116,319,448	N415K	probably benign	Het
Rev3l	T	A	10: 39,825,037	D1843E	probably benign	Het
Rps6ka4	T	A	19: 6,832,004	R427S	possibly damaging	Het
Scgb2b24	A	T	7: 33,737,370	L106I	probably benign	Het
Skint9	A	T	4: 112,391,718	M171K	probably benign	Het
Spata17	A	G	1: 187,112,559	V281A	possibly damaging	Het
Spef1	A	T	2: 131,172,705	V99E	probably damaging	Het
Srpr	C	T	9: 35,214,719	T431I	probably damaging	Het
Stk32c	G	A	7: 139,188,257	P36L	unknown	Het
Taar7d	T	C	10: 24,027,841	I207T	probably benign	Het
Tle1	G	A	4: 72,126,267	T501I	probably damaging	Het
Tmem88b	A	T	4: 155,784,276	W172R	probably damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vcl	G	T	14: 21,020,658	V771L	probably benign	Het
Vmn1r200	T	A	13: 22,395,741	M238K	probably damaging	Het
Vmn2r96	A	G	17: 18,573,359		probably benign	Het
Vsig10l	G	T	7: 43,463,371	E18*	probably null	Het
Wdfy3	A	G	5: 101,852,612	L2964P	probably benign	Het
Zfp334	G	A	2: 165,380,351	R591W	probably damaging	Het

Other mutations in Gm7534

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02183:Gm7534	APN	4	134201980	missense	probably benign	0.27
IGL03170:Gm7534	APN	4	134193034	missense	possibly damaging	0.57
FR4342:Gm7534	UTSW	4	134202631	small insertion	probably benign
FR4976:Gm7534	UTSW	4	134202630	small insertion	probably benign
R0487:Gm7534	UTSW	4	134202778	missense	probably damaging	0.97
R0530:Gm7534	UTSW	4	134202910	missense	probably benign
R0553:Gm7534	UTSW	4	134202518	missense	possibly damaging	0.85
R1121:Gm7534	UTSW	4	134202937	missense	probably benign	0.00
R1458:Gm7534	UTSW	4	134196833	missense	probably benign	0.01
R1748:Gm7534	UTSW	4	134200299	missense	probably damaging	1.00
R1748:Gm7534	UTSW	4	134202119	missense	possibly damaging	0.57
R1913:Gm7534	UTSW	4	134192675	critical splice donor site	probably null
R2029:Gm7534	UTSW	4	134202358	missense	possibly damaging	0.87
R2069:Gm7534	UTSW	4	134201941	missense	possibly damaging	0.63
R2237:Gm7534	UTSW	4	134202205	missense	unknown
R2239:Gm7534	UTSW	4	134202205	missense	unknown
R3943:Gm7534	UTSW	4	134200345	missense	probably benign	0.15
R4646:Gm7534	UTSW	4	134202148	missense	probably benign	0.00
R4673:Gm7534	UTSW	4	134200347	missense	probably benign	0.01
R4838:Gm7534	UTSW	4	134193099	missense	probably benign	0.04
R5002:Gm7534	UTSW	4	134196920	missense	probably benign	0.09
R5593:Gm7534	UTSW	4	134193039	missense	probably damaging	0.99
R5606:Gm7534	UTSW	4	134200212	missense	probably benign	0.13
R6553:Gm7534	UTSW	4	134202056	missense	probably damaging	0.99
R6834:Gm7534	UTSW	4	134193165	missense	possibly damaging	0.95
R6931:Gm7534	UTSW	4	134193153	missense	probably benign	0.28
R7526:Gm7534	UTSW	4	134200073	splice site	probably null
R7771:Gm7534	UTSW	4	134195443	missense	probably benign	0.01
R8271:Gm7534	UTSW	4	134202967	missense	unknown
R8725:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8727:Gm7534	UTSW	4	134202839	missense	probably benign	0.19
R8757:Gm7534	UTSW	4	134202971	missense	unknown
R8966:Gm7534	UTSW	4	134202401	missense	probably damaging	0.98
R8992:Gm7534	UTSW	4	134202667	missense	probably damaging	0.99
R9039:Gm7534	UTSW	4	134195547	missense	probably damaging	0.98
R9275:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9278:Gm7534	UTSW	4	134195459	missense	probably damaging	1.00
R9434:Gm7534	UTSW	4	134202242	missense	probably benign	0.01
R9458:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9460:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9461:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9480:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9551:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9552:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
R9553:Gm7534	UTSW	4	134202001	missense	probably benign	0.36
RF015:Gm7534	UTSW	4	134193027	missense	probably benign
T0975:Gm7534	UTSW	4	134202629	small insertion	probably benign
Z1176:Gm7534	UTSW	4	134200338	missense	possibly damaging	0.90
Z1176:Gm7534	UTSW	4	134202677	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCCCCGGCCATTTATCTG -3'
(R):5'- CCACAACAATGAGTATGTCACCTG -3'

Sequencing Primer
(F):5'- GTGTTACTCCATGTTATCCATACAC -3'
(R):5'- GTCACCTGACACACACCACAG -3'

Posted On

2022-07-18