Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4458001:Gm7489'

555936

Institutional Source

Beutler Lab

Gene Symbol

Gm7489

Ensembl Gene

ENSMUSG00000072584

Gene Name

predicted gene 7489

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

PIT4458001 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

53748302-53749993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53749195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 89 (E89A)

Ref Sequence

ENSEMBL: ENSMUSP00000098231 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078673] [ENSMUST00000100666] [ENSMUST00000132059]

AlphaFold

Q3UT34

Predicted Effect

probably benign
Transcript: ENSMUST00000078673

SMART Domains

Protein: ENSMUSP00000077741
Gene: ENSMUSG00000058656

Domain	Start	End	E-Value	Type
SAM	74	143	1e-8	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000100666
AA Change: E89A

Predicted Effect

probably benign
Transcript: ENSMUST00000132059

Coding Region Coverage

1x: 93.1%
3x: 90.8%
10x: 85.3%
20x: 73.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,248,304 (GRCm39)	V2684L	probably benign	Het
Adamts9	T	A	6: 92,866,886 (GRCm39)	I718F	probably damaging	Het
Adcyap1r1	A	G	6: 55,455,067 (GRCm39)	D110G	probably benign	Het
Adgrd1	G	A	5: 129,208,641 (GRCm39)	G281D	probably damaging	Het
Afg1l	A	T	10: 42,330,366 (GRCm39)	C100*	probably null	Het
Atp2a2	G	A	5: 122,595,372 (GRCm39)	Q993*	probably null	Het
Baz1a	A	G	12: 54,977,095 (GRCm39)	M389T	probably benign	Het
Btnl4	T	A	17: 34,693,242 (GRCm39)	M58L	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cpeb1	A	T	7: 80,998,180 (GRCm39)	F533Y	probably damaging	Het
Ctnna1	T	A	18: 35,308,179 (GRCm39)	N166K	possibly damaging	Het
Ecsit	T	C	9: 21,987,580 (GRCm39)	H153R	probably damaging	Het
Gbp8	T	C	5: 105,162,955 (GRCm39)	K480E	probably benign	Het
Glyat	A	T	19: 12,625,373 (GRCm39)	T66S	probably benign	Het
Gm1110	T	C	9: 26,792,124 (GRCm39)	Q632R	probably benign	Het
Gm12185	C	T	11: 48,798,738 (GRCm39)	R585Q	probably damaging	Het
Gm17669	TAA	TAAA	18: 67,695,819 (GRCm39)		probably null	Het
Grb7	C	T	11: 98,344,655 (GRCm39)	Q353*	probably null	Het
Ifi207	G	A	1: 173,562,738 (GRCm39)	T136I	unknown	Het
Ighv3-1	T	C	12: 113,928,224 (GRCm39)	Y45C	probably benign	Het
Ing5	A	G	1: 93,739,668 (GRCm39)	M92V	possibly damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Lmo7	C	T	14: 102,124,923 (GRCm39)	Q583*	probably null	Het
Lrrc37a	T	C	11: 103,395,338 (GRCm39)	D29G	probably benign	Het
Mpdz	G	T	4: 81,337,263 (GRCm39)	A10D	probably damaging	Het
Myh4	A	G	11: 67,131,821 (GRCm39)	M94V	possibly damaging	Het
Nectin2	A	C	7: 19,472,252 (GRCm39)	L46V	probably benign	Het
Nynrin	A	T	14: 56,101,425 (GRCm39)	T365S	probably benign	Het
Or4c120	A	T	2: 89,000,977 (GRCm39)	I193K	probably benign	Het
Pde4b	A	C	4: 102,459,875 (GRCm39)	E570A	probably damaging	Het
Phf3	T	C	1: 30,855,622 (GRCm39)	H988R	probably damaging	Het
Ppfia2	A	G	10: 106,763,708 (GRCm39)	K1234E	probably benign	Het
Prl7c1	A	T	13: 27,957,741 (GRCm39)	M233K	probably benign	Het
Prp2	C	T	6: 132,577,510 (GRCm39)	P266S	unknown	Het
Ralgds	T	C	2: 28,432,486 (GRCm39)	L160P	probably damaging	Het
Rasa1	A	T	13: 85,375,237 (GRCm39)	M664K	possibly damaging	Het
Ryr2	T	C	13: 11,570,334 (GRCm39)	T4930A	probably benign	Het
Senp8	T	C	9: 59,644,763 (GRCm39)	Y131C	probably damaging	Het
Sp100	A	G	1: 85,635,837 (GRCm39)	I547M	probably benign	Het
Spata20	A	G	11: 94,375,434 (GRCm39)	M120T	probably damaging	Het
Spata31	A	G	13: 65,069,664 (GRCm39)	H604R	probably benign	Het
Sycp1	A	T	3: 102,842,149 (GRCm39)	S53T	probably benign	Het
Tgm1	T	C	14: 55,950,022 (GRCm39)	D62G	unknown	Het
Trpm1	G	C	7: 63,918,309 (GRCm39)	E1434Q	possibly damaging	Het
Tshb	A	T	3: 102,685,480 (GRCm39)	Y50N	probably damaging	Het
Wdr17	A	T	8: 55,126,614 (GRCm39)	Y413*	probably null	Het
Zdhhc16	G	A	19: 41,926,209 (GRCm39)	G55R	possibly damaging	Het

Other mutations in Gm7489

Allele	Source	Chr	Coord	Type	Predicted Effect
R2319:Gm7489	UTSW	15	53,748,445 (GRCm39)	intron	probably benign
R4852:Gm7489	UTSW	15	53,749,434 (GRCm39)	intron	probably benign
R5212:Gm7489	UTSW	15	53,749,016 (GRCm39)	intron	probably benign
R6778:Gm7489	UTSW	15	53,749,348 (GRCm39)	intron	probably benign
R7832:Gm7489	UTSW	15	53,749,402 (GRCm39)	missense	unknown
R9612:Gm7489	UTSW	15	53,749,369 (GRCm39)	missense	unknown
R9612:Gm7489	UTSW	15	53,749,368 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAATCTTAAGCCCACTGATGCC -3'
(R):5'- ATGGGAAGCCACTTGTATGGG -3'

Sequencing Primer
(F):5'- CTCTCCAAGAGCTGAAGTTCAGG -3'
(R):5'- CCACTTGTATGGGAAGAGTGC -3'

Posted On

2019-06-07