Mutagenetix > Incidental Mutation

Incidental Mutation 'R7074:Gm4950'

549131

Institutional Source

Beutler Lab

Gene Symbol

Gm4950

Ensembl Gene

ENSMUSG00000069379

Gene Name

predicted pseudogene 4950

Synonyms

MMRRC Submission

045242-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R7074 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51998339-51998953 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 51998521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 145 (Q145*)

Ref Sequence

ENSEMBL: ENSMUSP00000089519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091905]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000091905
AA Change: Q145*

SMART Domains

Protein: ENSMUSP00000089519
Gene: ENSMUSG00000069379
AA Change: Q145*

Domain	Start	End	E-Value	Type
Pfam:Proteasome	6	190	1.6e-41	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,340,433 (GRCm39)	I53L	probably benign	Het
Acss2	T	C	2: 155,363,961 (GRCm39)	L80P	possibly damaging	Het
Adam3	A	T	8: 25,184,363 (GRCm39)	F546I	probably benign	Het
Adtrp	A	T	13: 41,981,617 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,520,194 (GRCm39)	P208T	probably damaging	Het
Ankrd33	A	G	15: 101,017,430 (GRCm39)	K281R	probably benign	Het
Bcl11b	A	G	12: 107,955,766 (GRCm39)	S128P	probably benign	Het
Ccdc57	T	C	11: 120,794,200 (GRCm39)	K265E	possibly damaging	Het
Cep72	A	G	13: 74,199,699 (GRCm39)	C244R	probably benign	Het
Cope	A	G	8: 70,765,537 (GRCm39)	Q303R	probably benign	Het
Cpd	T	A	11: 76,704,420 (GRCm39)	N398I	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,601,214 (GRCm39)	E344D	possibly damaging	Het
Dock7	A	T	4: 98,833,445 (GRCm39)	F1951I	unknown	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Faap24	A	T	7: 35,094,527 (GRCm39)	I91K	possibly damaging	Het
Fubp3	T	C	2: 31,485,306 (GRCm39)	S107P	probably damaging	Het
Gas2l2	T	A	11: 83,313,893 (GRCm39)	Q473L	probably benign	Het
Ghr	A	T	15: 3,362,873 (GRCm39)	Y200N	probably damaging	Het
Gm826	C	T	2: 160,153,810 (GRCm39)	V78I	unknown	Het
Gnas	G	A	2: 174,126,842 (GRCm39)	E126K	probably damaging	Het
Grip2	A	T	6: 91,761,689 (GRCm39)	V235E	probably benign	Het
Hmgcl	A	G	4: 135,681,178 (GRCm39)	H88R	probably benign	Het
Htr7	A	G	19: 36,034,283 (GRCm39)	V124A	probably damaging	Het
Igf2r	T	A	17: 12,933,003 (GRCm39)	I840F	possibly damaging	Het
Ints8	T	C	4: 11,204,574 (GRCm39)	I961V	possibly damaging	Het
Jmy	A	T	13: 93,590,439 (GRCm39)	S555T	probably benign	Het
Klk1b27	G	A	7: 43,705,977 (GRCm39)	G227S	probably damaging	Het
Lao1	A	C	4: 118,825,382 (GRCm39)	T401P	probably damaging	Het
Lrwd1	C	T	5: 136,152,511 (GRCm39)	V547I	probably benign	Het
Mttp	C	A	3: 137,813,034 (GRCm39)	R532L	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Myo18a	T	A	11: 77,733,387 (GRCm39)	D1409E	probably benign	Het
Ncor2	T	A	5: 125,126,430 (GRCm39)	R554*	probably null	Het
Or14j6	T	A	17: 38,214,718 (GRCm39)	Y94N	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,975 (GRCm39)	H153L	probably benign	Het
Or2b11	T	C	11: 59,461,835 (GRCm39)	T244A	probably damaging	Het
Or2l13b	T	A	16: 19,348,855 (GRCm39)	I272F	possibly damaging	Het
Or52b1	A	G	7: 104,978,475 (GRCm39)	M308T	probably benign	Het
Prkar2b	A	G	12: 32,022,147 (GRCm39)	Y213H	probably damaging	Het
Prkd3	T	A	17: 79,282,236 (GRCm39)	K306*	probably null	Het
Psd2	A	G	18: 36,143,737 (GRCm39)	E681G	probably benign	Het
Sel1l2	T	A	2: 140,105,362 (GRCm39)	N276I	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Smyd1	A	G	6: 71,214,359 (GRCm39)	V214A	probably damaging	Het
Spag5	T	C	11: 78,195,868 (GRCm39)		probably null	Het
Trem3	C	T	17: 48,556,909 (GRCm39)	R127W	probably damaging	Het
Ttn	G	A	2: 76,748,425 (GRCm39)	T4208I	probably benign	Het
Tubgcp6	A	G	15: 89,004,839 (GRCm39)	F260S	probably damaging	Het
Vmn1r51	A	T	6: 90,106,654 (GRCm39)	D190V	probably benign	Het
Zc3h14	A	G	12: 98,724,859 (GRCm39)	I174V	possibly damaging	Het
Zfp423	G	A	8: 88,509,060 (GRCm39)	T428I	probably benign	Het
Zfp608	T	A	18: 55,030,454 (GRCm39)	N1162I	possibly damaging	Het
Zmym5	T	C	14: 57,042,255 (GRCm39)	M8V	probably benign	Het

Other mutations in Gm4950

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02483:Gm4950	APN	18	51,998,406 (GRCm39)	missense	probably damaging	0.99
IGL02904:Gm4950	APN	18	51,998,803 (GRCm39)	missense	probably benign
R1203:Gm4950	UTSW	18	51,998,830 (GRCm39)	missense	probably benign
R2422:Gm4950	UTSW	18	51,998,856 (GRCm39)	missense	probably benign	0.41
R4597:Gm4950	UTSW	18	51,998,865 (GRCm39)	missense	probably benign	0.06
R4958:Gm4950	UTSW	18	51,998,641 (GRCm39)	missense	probably benign
R9080:Gm4950	UTSW	18	51,998,922 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- AGCACAGGTTAGTCCATCCG -3'
(R):5'- CTGAAAGAAGGTCGGCACATC -3'

Sequencing Primer
(F):5'- GTTAGTCCATCCGGGCCTTCAG -3'
(R):5'- TTTCACCCTCATGAGCATGGTG -3'

Posted On

2019-05-15