Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:Gm4744'

391554

Institutional Source

Beutler Lab

Gene Symbol

Gm4744

Ensembl Gene

ENSMUSG00000063252

Gene Name

predicted gene 4744

Synonyms

MMRRC Submission

042620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40925396-40931286 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40926341 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 83 (Y83F)

Ref Sequence

ENSEMBL: ENSMUSP00000073326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073642]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000073642
AA Change: Y83F

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000073326
Gene: ENSMUSG00000063252
AA Change: Y83F

Domain	Start	End	E-Value	Type
Tryp_SPc	1	212	2.76e-86	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185738

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
C1galt1	A	G	6: 7,863,931 (GRCm39)	K4E	possibly damaging	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,484,897 (GRCm39)	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
M1ap	A	C	6: 82,980,813 (GRCm39)	D233A	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,693,304 (GRCm39)	T603N	probably benign	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	probably damaging	Het

Other mutations in Gm4744

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02630:Gm4744	APN	6	40,927,403 (GRCm39)	utr 5 prime	probably benign
R1501:Gm4744	UTSW	6	40,927,367 (GRCm39)	start gained	probably benign
R1905:Gm4744	UTSW	6	40,928,736 (GRCm39)	utr 5 prime	probably benign
R5475:Gm4744	UTSW	6	40,927,403 (GRCm39)	utr 5 prime	probably benign
R5475:Gm4744	UTSW	6	40,927,388 (GRCm39)	start gained	probably benign
R7128:Gm4744	UTSW	6	40,927,310 (GRCm39)	missense
R7757:Gm4744	UTSW	6	40,927,367 (GRCm39)	start gained	probably benign
R8247:Gm4744	UTSW	6	40,926,402 (GRCm39)	missense
R8493:Gm4744	UTSW	6	40,926,281 (GRCm39)	missense
R9573:Gm4744	UTSW	6	40,925,497 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCCCATAGTGAGACACAGGTAG -3'
(R):5'- TGGACTTGAGAATGATGGTCACTG -3'

Sequencing Primer
(F):5'- GACACAGGTAGAGATATACTGTTTTC -3'
(R):5'- CCTCTCTCTCTGATAACAAATGAGGG -3'

Posted On

2016-06-06