Mutagenetix > Incidental Mutation

Incidental Mutation 'R1216:Gm10985'

99626

Institutional Source

Beutler Lab

Gene Symbol

Gm10985

Ensembl Gene

ENSMUSG00000078742

Gene Name

predicted gene 10985

Synonyms

MMRRC Submission

039285-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1216 (G1)

Quality Score

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	A	T	1: 11,868,716 (GRCm39)	D332V	probably damaging	Het
Akr1c12	T	C	13: 4,326,322 (GRCm39)	Y53C	probably benign	Het
Arhgap23	T	C	11: 97,383,498 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,710,276 (GRCm39)		probably benign	Het
B4galnt2	A	G	11: 95,782,767 (GRCm39)	L15P	probably benign	Het
Cadps2	A	G	6: 23,583,472 (GRCm39)		probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dppa4	T	C	16: 48,113,343 (GRCm39)	F244S	possibly damaging	Het
Exoc1	A	G	5: 76,702,035 (GRCm39)	K445R	probably benign	Het
Fam47e	A	G	5: 92,710,343 (GRCm39)	E114G	probably damaging	Het
Fgf12	A	T	16: 27,981,202 (GRCm39)	N171K	possibly damaging	Het
Fyb2	G	A	4: 104,852,903 (GRCm39)	V528M	possibly damaging	Het
Ghr	A	G	15: 3,349,337 (GRCm39)	S614P	probably damaging	Het
Gpr152	T	A	19: 4,193,554 (GRCm39)	V365D	possibly damaging	Het
Guca1a	A	G	17: 47,706,637 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,310,997 (GRCm39)	G1079D	probably benign	Het
Hnrnpm	T	C	17: 33,868,687 (GRCm39)	D580G	probably damaging	Het
Ints6	A	T	14: 62,945,147 (GRCm39)	D394E	probably damaging	Het
Kat6b	T	A	14: 21,672,108 (GRCm39)	Y339*	probably null	Het
Kcnj11	C	A	7: 45,749,285 (GRCm39)	V13L	probably benign	Het
Lama3	C	T	18: 12,554,191 (GRCm39)		probably benign	Het
Mtrex	A	G	13: 113,050,876 (GRCm39)		probably benign	Het
Myo18a	A	G	11: 77,709,473 (GRCm39)	T161A	probably benign	Het
Ncapg	G	T	5: 45,857,261 (GRCm39)	S991I	possibly damaging	Het
Nrde2	G	A	12: 100,116,069 (GRCm39)		probably benign	Het
Or4c127	T	A	2: 89,832,822 (GRCm39)	I24N	probably benign	Het
Or5d18	T	C	2: 87,864,602 (GRCm39)	R294G	probably damaging	Het
Pcdhb7	A	T	18: 37,476,927 (GRCm39)	T688S	probably damaging	Het
Pla2g6	T	C	15: 79,190,635 (GRCm39)	D309G	probably benign	Het
Plod1	A	T	4: 148,005,584 (GRCm39)	V404D	probably damaging	Het
Ppp2r2a	G	T	14: 67,266,447 (GRCm39)	Y71*	probably null	Het
Prcp	A	G	7: 92,566,954 (GRCm39)	N222S	probably benign	Het
Rad21	T	C	15: 51,833,532 (GRCm39)	T316A	possibly damaging	Het
Ranbp2	T	C	10: 58,319,034 (GRCm39)		probably benign	Het
Rapgef4	C	A	2: 72,038,492 (GRCm39)	P548T	possibly damaging	Het
Ric1	G	T	19: 29,555,135 (GRCm39)	M416I	probably benign	Het
Slc9a8	T	C	2: 167,266,041 (GRCm39)	F6S	probably benign	Het
Smpdl3a	T	G	10: 57,678,575 (GRCm39)	I126S	probably null	Het
Sphkap	A	T	1: 83,268,698 (GRCm39)	L98Q	probably damaging	Het
Spink4	T	G	4: 40,924,974 (GRCm39)		probably benign	Het
Taar5	A	T	10: 23,847,605 (GRCm39)	L334F	probably damaging	Het
Tecta	A	T	9: 42,289,203 (GRCm39)	I454K	probably benign	Het
Ttc7	C	T	17: 87,654,006 (GRCm39)	T561M	possibly damaging	Het
Vmn2r9	G	T	5: 108,995,440 (GRCm39)	H403N	probably damaging	Het
Zdbf2	G	A	1: 63,342,161 (GRCm39)	C180Y	possibly damaging	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
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
R5585:Gm10985	UTSW	3	53,752,674 (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

PCR Primer
(F):5'- TCCTGTAAGGGAAGTACCAAGTACACAC -3'
(R):5'- CACCCAGGAACAGGCACAGTATC -3'

Sequencing Primer
(F):5'- GTACCAAGTACACACCTTTTTTCAAC -3'
(R):5'- acctctgagccatctctcc -3'

Posted On

2014-01-15