Mutagenetix > Incidental Mutation

Incidental Mutation 'R0993:Gm19965'

97815

Institutional Source

Beutler Lab

Gene Symbol

Gm19965

Ensembl Gene

ENSMUSG00000094429

Gene Name

predicted gene, 19965

Synonyms

MMRRC Submission

039113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R0993 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116730713-116751140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116749555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 412 (N412I)

Ref Sequence

ENSEMBL: ENSMUSP00000137019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179777]

AlphaFold

J3QNY8

Predicted Effect

probably benign
Transcript: ENSMUST00000179777
AA Change: N412I

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000137019
Gene: ENSMUSG00000094429
AA Change: N412I

Domain	Start	End	E-Value	Type
KRAB	8	68	1.5e-36	SMART

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Eml5	T	C	12: 98,827,442 (GRCm39)	E596G	probably benign	Het
Eri3	C	A	4: 117,421,860 (GRCm39)	T46K	possibly damaging	Het
Etv1	C	T	12: 38,877,863 (GRCm39)	P68S	probably damaging	Het
Fbxl8	C	A	8: 105,993,717 (GRCm39)	D24E	probably damaging	Het
Lmbr1	T	A	5: 29,492,391 (GRCm39)	H66L	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or8j3b	T	G	2: 86,205,222 (GRCm39)	Y178S	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Samd8	T	A	14: 21,825,563 (GRCm39)	V173D	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc2a9	T	A	5: 38,539,406 (GRCm39)	T365S	probably damaging	Het
Slc32a1	T	C	2: 158,453,340 (GRCm39)	M60T	possibly damaging	Het
Slx4	T	C	16: 3,803,689 (GRCm39)	S1042G	probably benign	Het
Stard9	T	C	2: 120,535,650 (GRCm39)	L193P	probably damaging	Het
Tln1	T	C	4: 43,549,825 (GRCm39)	K529E	probably benign	Het
Vps13d	G	A	4: 144,844,262 (GRCm39)	R1342*	probably null	Het

Other mutations in Gm19965

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1016:Gm19965	UTSW	1	116,749,031 (GRCm39)	nonsense	probably null
R1173:Gm19965	UTSW	1	116,748,550 (GRCm39)	splice site	probably benign
R1175:Gm19965	UTSW	1	116,748,550 (GRCm39)	splice site	probably benign
R1335:Gm19965	UTSW	1	116,732,349 (GRCm39)	missense	possibly damaging	0.79
R1773:Gm19965	UTSW	1	116,748,989 (GRCm39)	nonsense	probably null
R1802:Gm19965	UTSW	1	116,748,633 (GRCm39)	nonsense	probably null
R2884:Gm19965	UTSW	1	116,749,313 (GRCm39)	missense	probably benign	0.14
R3435:Gm19965	UTSW	1	116,749,353 (GRCm39)	missense	possibly damaging	0.78
R4072:Gm19965	UTSW	1	116,748,801 (GRCm39)	missense	probably benign	0.17
R4585:Gm19965	UTSW	1	116,749,508 (GRCm39)	missense	probably benign	0.00
R4801:Gm19965	UTSW	1	116,749,626 (GRCm39)	missense	probably benign
R4802:Gm19965	UTSW	1	116,749,626 (GRCm39)	missense	probably benign
R5328:Gm19965	UTSW	1	116,749,148 (GRCm39)	missense	possibly damaging	0.78
R5856:Gm19965	UTSW	1	116,749,579 (GRCm39)	missense	probably benign
R5960:Gm19965	UTSW	1	116,749,201 (GRCm39)	missense	possibly damaging	0.67
R6185:Gm19965	UTSW	1	116,749,003 (GRCm39)	missense	possibly damaging	0.61
R6297:Gm19965	UTSW	1	116,750,410 (GRCm39)	missense	possibly damaging	0.82
R6374:Gm19965	UTSW	1	116,750,021 (GRCm39)	missense	probably benign	0.06
R6811:Gm19965	UTSW	1	116,731,809 (GRCm39)	missense	probably damaging	1.00
R6860:Gm19965	UTSW	1	116,748,609 (GRCm39)	missense	probably benign	0.19
R7076:Gm19965	UTSW	1	116,749,005 (GRCm39)	missense
R7162:Gm19965	UTSW	1	116,750,095 (GRCm39)	missense	unknown
R7290:Gm19965	UTSW	1	116,748,921 (GRCm39)	missense
R7473:Gm19965	UTSW	1	116,749,602 (GRCm39)	missense	unknown
R7643:Gm19965	UTSW	1	116,749,959 (GRCm39)	missense	unknown
R7919:Gm19965	UTSW	1	116,749,850 (GRCm39)	nonsense	probably null
R8187:Gm19965	UTSW	1	116,749,532 (GRCm39)	nonsense	probably null
R8306:Gm19965	UTSW	1	116,749,515 (GRCm39)	missense
R8477:Gm19965	UTSW	1	116,730,854 (GRCm39)	start gained	probably benign
R8751:Gm19965	UTSW	1	116,749,867 (GRCm39)	missense	unknown
R8876:Gm19965	UTSW	1	116,749,776 (GRCm39)	missense	unknown
R9151:Gm19965	UTSW	1	116,748,942 (GRCm39)	missense
R9389:Gm19965	UTSW	1	116,749,566 (GRCm39)	missense
R9444:Gm19965	UTSW	1	116,732,393 (GRCm39)	missense
R9696:Gm19965	UTSW	1	116,749,210 (GRCm39)	missense
R9696:Gm19965	UTSW	1	116,730,838 (GRCm39)	start gained	probably benign
Z1088:Gm19965	UTSW	1	116,732,330 (GRCm39)	missense	probably benign	0.30

Predicted Primers

Posted On

2014-01-05