Mutagenetix > Incidental Mutation

Incidental Mutation 'R1027:Gm10985'

96834

Institutional Source

Beutler Lab

Gene Symbol

Gm10985

Ensembl Gene

ENSMUSG00000078742

Gene Name

predicted gene 10985

Synonyms

MMRRC Submission

039129-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1027 (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: 98.9%
3x: 97.9%
10x: 95.0%
20x: 89.0%

Validation Efficiency

94% (31/33)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts10	G	T	17: 33,762,737 (GRCm39)	R572L	probably benign	Het
Adamts16	A	T	13: 70,915,921 (GRCm39)	V838E	probably damaging	Het
Arfgef3	T	C	10: 18,467,123 (GRCm39)	R2026G	probably benign	Het
Arl16	G	A	11: 120,356,522 (GRCm39)	A159V	probably benign	Het
Astn1	G	T	1: 158,407,849 (GRCm39)	R602L	probably damaging	Het
Dennd1b	T	C	1: 138,969,700 (GRCm39)	V72A	probably damaging	Het
Filip1l	A	G	16: 57,390,051 (GRCm39)	E213G	probably benign	Het
Gm4076	T	C	13: 85,275,508 (GRCm39)		noncoding transcript	Het
Herc1	T	C	9: 66,363,250 (GRCm39)	V2691A	probably benign	Het
Hid1	A	C	11: 115,246,251 (GRCm39)	F340V	probably damaging	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Kif16b	T	C	2: 142,696,458 (GRCm39)		probably benign	Het
Map9	A	T	3: 82,284,401 (GRCm39)	D325V	probably damaging	Het
Mtor	A	G	4: 148,624,456 (GRCm39)	M2079V	probably benign	Het
Nop14	A	G	5: 34,801,348 (GRCm39)	S608P	probably damaging	Het
Or5p62	A	T	7: 107,771,348 (GRCm39)	V201D	probably damaging	Het
Pcm1	T	C	8: 41,746,482 (GRCm39)		probably benign	Het
Pigs	T	C	11: 78,227,651 (GRCm39)	S272P	probably damaging	Het
Plekhh1	T	C	12: 79,101,256 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,468,576 (GRCm39)	D129G	possibly damaging	Het
Rab33b	T	C	3: 51,391,876 (GRCm39)	S42P	probably damaging	Het
Rnf214	C	T	9: 45,811,187 (GRCm39)	V159I	probably benign	Het
Sel1l3	A	T	5: 53,302,820 (GRCm39)	M683K	possibly damaging	Het
Sntb2	A	G	8: 107,718,203 (GRCm39)	K304E	probably benign	Het
Svep1	C	A	4: 58,094,084 (GRCm39)	S1518I	possibly damaging	Het
Tg	T	C	15: 66,544,258 (GRCm39)	S76P	possibly damaging	Het
Ttn	A	G	2: 76,697,777 (GRCm39)		probably benign	Het
Zbtb12	CTTCAT	CTTCATTCAT	17: 35,115,284 (GRCm39)		probably null	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
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
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

2014-01-05