Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4495001:Gm5797'

555975

Institutional Source

Beutler Lab

Gene Symbol

Gm5797

Ensembl Gene

ENSMUSG00000072726

Gene Name

predicted gene 5797

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

PIT4495001 (G1)

Quality Score

119.008

Status

Not validated

Chromosome

Chromosomal Location

15137378-15145785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7329530 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 153 (T153A)

Ref Sequence

ENSEMBL: ENSMUSP00000098446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100886]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100886
AA Change: T153A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000098446
Gene: ENSMUSG00000072726
AA Change: T153A

Domain	Start	End	E-Value	Type
Pfam:Takusan	46	129	9.5e-32	PFAM

Coding Region Coverage

1x: 93.1%
3x: 90.6%
10x: 84.0%
20x: 69.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abl2	T	A	1: 156,460,755 (GRCm39)	V384D	probably damaging	Het
Adamts7	A	G	9: 90,056,675 (GRCm39)	E248G	probably damaging	Het
Aff1	A	G	5: 103,997,391 (GRCm39)	T1162A	probably benign	Het
Ank3	C	A	10: 69,828,902 (GRCm39)	H2524N		Het
Aoc1l3	A	T	6: 48,964,710 (GRCm39)	E239D	possibly damaging	Het
Cct7	T	A	6: 85,436,943 (GRCm39)	N60K	probably damaging	Het
Cfap43	A	C	19: 47,885,741 (GRCm39)	C291W	probably damaging	Het
Cobl	G	A	11: 12,204,596 (GRCm39)	T702I	probably benign	Het
Col5a1	C	A	2: 27,914,788 (GRCm39)	Q1624K	unknown	Het
Cubn	T	A	2: 13,496,561 (GRCm39)	T22S	probably benign	Het
Def8	A	C	8: 124,186,292 (GRCm39)	M344L	probably benign	Het
Fzd7	A	G	1: 59,523,466 (GRCm39)	T450A	probably benign	Het
Gm11214	G	A	4: 63,580,922 (GRCm39)	L76F	probably benign	Het
Gsk3a	A	C	7: 24,935,064 (GRCm39)	S129A	probably damaging	Het
Intu	A	G	3: 40,652,033 (GRCm39)	Q830R	probably benign	Het
Kcnma1	C	T	14: 23,475,665 (GRCm39)	V750I	probably benign	Het
Mlh1	T	A	9: 111,076,328 (GRCm39)	Y343F	probably benign	Het
Myb	C	T	10: 21,028,521 (GRCm39)	R114H	probably damaging	Het
Neb	A	T	2: 52,102,748 (GRCm39)	D4508E	probably benign	Het
Nell2	T	C	15: 95,281,608 (GRCm39)	D366G	probably benign	Het
Or1o3	A	C	17: 37,573,721 (GRCm39)	V278G	possibly damaging	Het
Or4d6	A	G	19: 12,086,076 (GRCm39)	I52T	possibly damaging	Het
Or5ac25	A	C	16: 59,181,871 (GRCm39)	F237V	probably damaging	Het
Or5h26	G	T	16: 58,988,337 (GRCm39)	H56Q	possibly damaging	Het
Or7a38	T	C	10: 78,752,821 (GRCm39)	V49A	probably benign	Het
Pcdhgc5	C	T	18: 37,954,030 (GRCm39)	H435Y	possibly damaging	Het
Pira12	A	T	7: 3,900,457 (GRCm39)	C98S	probably damaging	Het
Pnpla7	T	A	2: 24,932,151 (GRCm39)	D935E	probably damaging	Het
Pole	A	G	5: 110,451,780 (GRCm39)	E874G	probably damaging	Het
Psd3	A	C	8: 68,416,565 (GRCm39)	I158R	probably benign	Het
Pzp	C	A	6: 128,479,192 (GRCm39)	V654L	probably benign	Het
Rabep1	A	G	11: 70,808,405 (GRCm39)	T454A	probably damaging	Het
Rad54l2	C	A	9: 106,593,343 (GRCm39)	S419I	probably benign	Het
Rin3	A	G	12: 102,335,295 (GRCm39)	D402G	probably benign	Het
Ripk4	T	C	16: 97,544,370 (GRCm39)	H759R	probably damaging	Het
Rlig1	A	T	10: 100,419,812 (GRCm39)	F90I	probably damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Sf3a3	C	T	4: 124,622,113 (GRCm39)	P391L	probably damaging	Het
Snx9	T	A	17: 5,970,401 (GRCm39)	I379K	possibly damaging	Het
Syt5	A	C	7: 4,544,077 (GRCm39)		probably null	Het
Tex47	A	G	5: 7,355,011 (GRCm39)	D64G	probably benign	Het
Zbbx	C	A	3: 74,968,944 (GRCm39)	W509L	probably damaging	Het
Zer1	T	C	2: 29,993,555 (GRCm39)	K551R	probably benign	Het

Other mutations in Gm5797

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4151001:Gm5797	UTSW	14	7,330,318 (GRCm38)	missense	possibly damaging	0.89
Z1177:Gm5797	UTSW	14	7,329,383 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACACATCATCCTACCTGCTG -3'
(R):5'- ATAGGCTGCACTCTTGGTGTC -3'

Sequencing Primer
(F):5'- CTGCTCCTTGGCACTTGAGG -3'
(R):5'- CACTCTTGGTGTCAGGGC -3'

Posted On

2019-06-07