Mutagenetix > Incidental Mutation

Incidental Mutation 'R5585:Gm10985'

458024

Institutional Source

Beutler Lab

Gene Symbol

Gm10985

Ensembl Gene

ENSMUSG00000078742

Gene Name

predicted gene 10985

Synonyms

MMRRC Submission

043139-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5585 (G1)

Quality Score

103

Status

Not validated

Chromosome

Chromosomal Location

53752507-53752699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53752674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 19 (Y19S)

Ref Sequence

ENSEMBL: ENSMUSP00000103649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108014]

AlphaFold

F6T1P1

Predicted Effect

probably damaging
Transcript: ENSMUST00000108014
AA Change: Y19S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158028

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	A	T	17: 46,044,670 (GRCm39)	I17N	unknown	Het
4932414N04Rik	A	G	2: 68,571,770 (GRCm39)	T549A	probably benign	Het
9330159F19Rik	C	A	10: 29,101,271 (GRCm39)	S548Y	possibly damaging	Het
Aanat	A	G	11: 116,487,799 (GRCm39)	Y166C	probably damaging	Het
Adra2a	G	T	19: 54,034,670 (GRCm39)	A9S	probably benign	Het
Ap4m1	A	G	5: 138,170,502 (GRCm39)	Y17C	probably damaging	Het
Arhgap33	T	G	7: 30,223,260 (GRCm39)	M891L	probably benign	Het
Calm5	A	G	13: 3,904,372 (GRCm39)	D22G	possibly damaging	Het
Ccdc15	C	T	9: 37,188,699 (GRCm39)	R795H	probably benign	Het
Cngb1	T	A	8: 95,989,767 (GRCm39)	I323F	probably damaging	Het
Cyp26b1	A	G	6: 84,554,171 (GRCm39)	F74L	probably damaging	Het
Dpagt1	G	A	9: 44,240,439 (GRCm39)		probably null	Het
Ercc8	C	T	13: 108,312,123 (GRCm39)	P196S	probably damaging	Het
Hfm1	G	A	5: 107,059,305 (GRCm39)	S239L	probably benign	Het
Hgf	A	G	5: 16,769,799 (GRCm39)	D91G	possibly damaging	Het
Lefty2	T	A	1: 180,720,828 (GRCm39)	V27D	possibly damaging	Het
Lrp2	G	A	2: 69,294,968 (GRCm39)	T3450I	possibly damaging	Het
Lrrc38	A	G	4: 143,076,961 (GRCm39)	I75V	probably damaging	Het
Ncor2	C	A	5: 125,144,975 (GRCm39)	E556*	probably null	Het
Nedd9	A	G	13: 41,469,950 (GRCm39)	L401P	probably damaging	Het
Nfatc4	T	C	14: 56,064,212 (GRCm39)	L163P	probably damaging	Het
Nln	T	C	13: 104,161,569 (GRCm39)	N667S	possibly damaging	Het
Or5w20	A	G	2: 87,727,019 (GRCm39)	T159A	possibly damaging	Het
Pnpla8	T	C	12: 44,329,847 (GRCm39)	I133T	probably benign	Het
Psma1	C	T	7: 113,873,302 (GRCm39)	G12S	probably damaging	Het
Psmd3	G	A	11: 98,573,707 (GRCm39)	G51D	possibly damaging	Het
Ptprb	A	G	10: 116,216,759 (GRCm39)	Q1959R	probably damaging	Het
Rhbdf1	A	G	11: 32,160,222 (GRCm39)		probably null	Het
Rnf167	T	C	11: 70,540,308 (GRCm39)	V110A	probably damaging	Het
Rrp9	C	T	9: 106,362,525 (GRCm39)	S470F	probably benign	Het
Rtn3	G	A	19: 7,435,560 (GRCm39)	P125L	probably benign	Het
Scube1	C	T	15: 83,561,124 (GRCm39)	C156Y	probably damaging	Het
Tgm2	A	T	2: 157,973,375 (GRCm39)	Y245*	probably null	Het
Timeless	T	C	10: 128,076,112 (GRCm39)	I68T	probably damaging	Het
Ttn	A	G	2: 76,645,054 (GRCm39)	S12934P	probably damaging	Het
Vwa5b2	T	A	16: 20,413,428 (GRCm39)	Y214*	probably null	Het
Yars2	T	A	16: 16,122,484 (GRCm39)	N7K	probably damaging	Het
Zfp142	G	A	1: 74,617,404 (GRCm39)	Q150*	probably null	Het
Zfp995	C	T	17: 22,106,339 (GRCm39)		probably benign	Het

Other mutations in Gm10985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02805:Gm10985	APN	3	53,752,514 (GRCm39)	critical splice donor site	probably null
R0027:Gm10985	UTSW	3	53,752,677 (GRCm39)	frame shift	probably null
R0184:Gm10985	UTSW	3	53,752,679 (GRCm39)	missense	probably damaging	0.99
R1027:Gm10985	UTSW	3	53,752,674 (GRCm39)	missense	probably damaging	0.99
R1216:Gm10985	UTSW	3	53,752,674 (GRCm39)	missense	probably damaging	0.99
R2126:Gm10985	UTSW	3	53,752,670 (GRCm39)	frame shift	probably null
R3757:Gm10985	UTSW	3	53,752,645 (GRCm39)	frame shift	probably null
R3870:Gm10985	UTSW	3	53,752,626 (GRCm39)	frame shift	probably null
R5567:Gm10985	UTSW	3	53,752,683 (GRCm39)	missense	probably damaging	0.99
R6782:Gm10985	UTSW	3	53,752,626 (GRCm39)	frame shift	probably null
R6818:Gm10985	UTSW	3	53,752,674 (GRCm39)	missense	probably damaging	0.99
R8398:Gm10985	UTSW	3	53,752,674 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

Posted On

2017-02-16