Mutagenetix > Incidental Mutation

Incidental Mutation 'R4958:Gm4950'

381732

Institutional Source

Beutler Lab

Gene Symbol

Gm4950

Ensembl Gene

ENSMUSG00000069379

Gene Name

predicted pseudogene 4950

Synonyms

MMRRC Submission

042555-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.883) question?

Stock #

R4958 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51998339-51998953 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51998641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 105 (T105A)

Ref Sequence

ENSEMBL: ENSMUSP00000089519 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000091905
AA Change: T105A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000089519
Gene: ENSMUSG00000069379
AA Change: T105A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd7	A	G	6: 18,866,722 (GRCm39)	S81G	probably benign	Het
Arel1	T	C	12: 84,973,078 (GRCm39)	K573R	possibly damaging	Het
Atf7ip	C	T	6: 136,583,808 (GRCm39)	R1280C	probably damaging	Het
Atp1a4	T	A	1: 172,058,718 (GRCm39)	D909V	probably damaging	Het
Cdh2	T	G	18: 16,760,622 (GRCm39)		probably null	Het
Col6a1	A	T	10: 76,559,339 (GRCm39)	I99N	probably damaging	Het
Dennd4c	A	G	4: 86,699,916 (GRCm39)	T256A	probably damaging	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ereg	T	C	5: 91,237,970 (GRCm39)	V152A	probably damaging	Het
Hsf2	T	C	10: 57,377,467 (GRCm39)	I121T	probably damaging	Het
Kmt2a	A	T	9: 44,759,764 (GRCm39)	L728Q	probably damaging	Het
Llgl1	G	T	11: 60,602,261 (GRCm39)	R768L	probably benign	Het
Lyst	A	G	13: 13,810,048 (GRCm39)	I573V	probably benign	Het
Macf1	G	T	4: 123,369,157 (GRCm39)	T303K	probably damaging	Het
Map3k5	A	T	10: 19,899,535 (GRCm39)	Q264L	possibly damaging	Het
Mboat1	T	C	13: 30,408,376 (GRCm39)	S180P	probably damaging	Het
Mfsd6	T	C	1: 52,700,183 (GRCm39)	D655G	probably damaging	Het
Myh2	A	G	11: 67,083,785 (GRCm39)	E1521G	possibly damaging	Het
Nsd2	T	A	5: 34,049,366 (GRCm39)	S1200R	probably damaging	Het
Or51k2	T	C	7: 103,595,808 (GRCm39)	F12L	probably damaging	Het
Or52n2b	T	C	7: 104,565,668 (GRCm39)	I278M	probably damaging	Het
Or6z3	G	A	7: 6,464,057 (GRCm39)	C183Y	probably damaging	Het
Or8h9	T	C	2: 86,789,449 (GRCm39)	M118V	possibly damaging	Het
Pbrm1	T	C	14: 30,796,784 (GRCm39)	I875T	probably damaging	Het
Pla2g1b	T	A	5: 115,608,885 (GRCm39)	F26I	probably damaging	Het
Plscr4	A	G	9: 92,366,814 (GRCm39)	N143D	possibly damaging	Het
Rab11fip1	G	T	8: 27,644,841 (GRCm39)	R315S	probably damaging	Het
Rptor	G	A	11: 119,748,217 (GRCm39)	R727Q	probably benign	Het
Serac1	A	T	17: 6,119,657 (GRCm39)	V91D	probably benign	Het
Slco1a6	C	A	6: 142,091,431 (GRCm39)	G90C	probably damaging	Het
Sulf1	A	G	1: 12,867,134 (GRCm39)	Y106C	probably benign	Het
Syt13	G	A	2: 92,783,794 (GRCm39)	V355M	probably damaging	Het
Tjp1	G	A	7: 64,985,850 (GRCm39)	R314*	probably null	Het
Tshr	A	G	12: 91,504,961 (GRCm39)	D633G	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Znrf4	A	G	17: 56,818,701 (GRCm39)	F202S	probably damaging	Het
Zswim8	T	A	14: 20,763,533 (GRCm39)	W427R	probably damaging	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
R7074:Gm4950	UTSW	18	51,998,521 (GRCm39)	nonsense	probably null
R9080:Gm4950	UTSW	18	51,998,922 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- GAAATGGTTTCAAACAGGTGTTCTG -3'
(R):5'- TGACCACGGACTTCCAGAAG -3'

Sequencing Primer
(F):5'- CTGGATCCATGTGGGGCTC -3'
(R):5'- GGACTTCCAGAAGATCTTTGCCATG -3'

Posted On

2016-04-27