Mutagenetix > Incidental Mutation

Incidental Mutation 'R4039:4933412E24Rik'

313862

Institutional Source

Beutler Lab

Gene Symbol

4933412E24Rik

Ensembl Gene

ENSMUSG00000071749

Gene Name

RIKEN cDNA 4933412E24 gene

Synonyms

MMRRC Submission

041614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R4039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

59886715-59888462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 59888215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 75 (L75Q)

Ref Sequence

ENSEMBL: ENSMUSP00000094154 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096421]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096421
AA Change: L75Q

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: L75Q

Domain	Start	End	E-Value	Type
Pfam:DUF4641	79	509	5.4e-189	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cep290	T	C	10: 100,348,263 (GRCm39)		probably null	Het
Col11a2	A	G	17: 34,264,748 (GRCm39)	T268A	probably benign	Het
Crnkl1	T	A	2: 145,774,247 (GRCm39)	D72V	possibly damaging	Het
Csn2	C	T	5: 87,845,935 (GRCm39)	M1I	probably null	Het
Dhcr24	T	C	4: 106,431,075 (GRCm39)	F255L	probably benign	Het
Epn2	A	G	11: 61,437,348 (GRCm39)	Y75H	probably damaging	Het
Galnt3	A	T	2: 65,915,671 (GRCm39)	H563Q	probably damaging	Het
Galnt9	T	C	5: 110,762,074 (GRCm39)	V37A	probably damaging	Het
Glb1l3	A	C	9: 26,740,343 (GRCm39)	M329R	probably damaging	Het
Gorab	A	T	1: 163,224,635 (GRCm39)	D55E	possibly damaging	Het
Herc2	G	A	7: 55,806,159 (GRCm39)	R2318Q	probably damaging	Het
Hspa2	T	C	12: 76,452,542 (GRCm39)	V412A	probably damaging	Het
Hspb8	A	G	5: 116,547,403 (GRCm39)	V193A	probably benign	Het
Ly75	A	G	2: 60,183,339 (GRCm39)	L481P	probably damaging	Het
Lyzl1	T	C	18: 4,169,140 (GRCm39)	L48P	probably damaging	Het
Mettl27	C	T	5: 134,969,463 (GRCm39)	Q212*	probably null	Het
Mmachc	T	A	4: 116,563,215 (GRCm39)	T47S	probably damaging	Het
Ncam2	C	T	16: 81,287,211 (GRCm39)	S375L	probably benign	Het
Ogfrl1	T	C	1: 23,418,045 (GRCm39)		probably benign	Het
Parp9	T	C	16: 35,780,417 (GRCm39)	L461P	probably damaging	Het
Pcsk7	A	G	9: 45,839,305 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,101,957 (GRCm39)	H342Q	probably benign	Het
Prdm13	T	G	4: 21,685,774 (GRCm39)		probably benign	Het
Prkaa2	T	C	4: 104,908,444 (GRCm39)	N144D	probably damaging	Het
Ptpn12	A	T	5: 21,207,508 (GRCm39)	Y283*	probably null	Het
Rab12	T	C	17: 66,807,396 (GRCm39)	Y111C	possibly damaging	Het
Ralgapa1	T	C	12: 55,842,486 (GRCm39)	N61S	probably damaging	Het
Rims1	T	C	1: 22,514,793 (GRCm39)	S537G	probably damaging	Het
Sash1	G	T	10: 8,605,391 (GRCm39)	P1000T	probably damaging	Het
Skint5	G	T	4: 113,743,011 (GRCm39)	T352K	unknown	Het
Slc12a5	A	G	2: 164,834,250 (GRCm39)	E757G	probably benign	Het
Sycp2	C	A	2: 178,022,720 (GRCm39)	M470I	possibly damaging	Het
Szt2	T	C	4: 118,222,149 (GRCm39)		probably benign	Het
Tbc1d1	A	G	5: 64,473,771 (GRCm39)	T765A	probably damaging	Het
Tgfbr2	T	C	9: 116,004,105 (GRCm39)	M1V	probably null	Het
Tnfrsf11a	A	G	1: 105,755,464 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,400 (GRCm39)	L111P	probably damaging	Het
Ttbk2	A	T	2: 120,576,276 (GRCm39)	S900R	probably benign	Het
Unc79	G	A	12: 103,041,208 (GRCm39)	C747Y	possibly damaging	Het
Vmn1r218	T	C	13: 23,320,971 (GRCm39)	V26A	possibly damaging	Het
Vmn2r115	A	T	17: 23,564,077 (GRCm39)	Y83F	probably benign	Het
Zfp536	A	T	7: 37,268,975 (GRCm39)	L147Q	probably damaging	Het
Zfp931	T	A	2: 177,709,777 (GRCm39)	Q203L	possibly damaging	Het
Zswim2	G	A	2: 83,746,338 (GRCm39)	H367Y	probably damaging	Het

Other mutations in 4933412E24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:4933412E24Rik	APN	15	59,887,424 (GRCm39)	missense	possibly damaging	0.82
IGL02078:4933412E24Rik	APN	15	59,888,179 (GRCm39)	missense	probably benign	0.02
IGL02493:4933412E24Rik	APN	15	59,888,312 (GRCm39)	missense	probably benign	0.00
IGL03336:4933412E24Rik	APN	15	59,888,251 (GRCm39)	missense	probably benign	0.00
R0466:4933412E24Rik	UTSW	15	59,887,321 (GRCm39)	missense	probably benign	0.00
R0961:4933412E24Rik	UTSW	15	59,887,160 (GRCm39)	missense	probably benign	0.36
R1765:4933412E24Rik	UTSW	15	59,887,194 (GRCm39)	nonsense	probably null
R2341:4933412E24Rik	UTSW	15	59,888,212 (GRCm39)	missense	possibly damaging	0.85
R2440:4933412E24Rik	UTSW	15	59,888,129 (GRCm39)	missense	probably benign
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R3162:4933412E24Rik	UTSW	15	59,888,134 (GRCm39)	missense	probably damaging	1.00
R4416:4933412E24Rik	UTSW	15	59,888,272 (GRCm39)	missense	possibly damaging	0.88
R4868:4933412E24Rik	UTSW	15	59,887,817 (GRCm39)	missense	possibly damaging	0.50
R4907:4933412E24Rik	UTSW	15	59,887,957 (GRCm39)	missense	probably benign	0.00
R5462:4933412E24Rik	UTSW	15	59,886,917 (GRCm39)	missense	probably benign	0.09
R7275:4933412E24Rik	UTSW	15	59,887,738 (GRCm39)	missense	probably benign	0.32
R7842:4933412E24Rik	UTSW	15	59,888,422 (GRCm39)	missense	probably damaging	1.00
R8261:4933412E24Rik	UTSW	15	59,888,425 (GRCm39)	missense	probably benign	0.44
R8297:4933412E24Rik	UTSW	15	59,887,524 (GRCm39)	missense	probably damaging	1.00
R8378:4933412E24Rik	UTSW	15	59,886,967 (GRCm39)	missense	probably damaging	0.99
R8808:4933412E24Rik	UTSW	15	59,887,919 (GRCm39)	missense	probably benign	0.00
X0052:4933412E24Rik	UTSW	15	59,888,375 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TTTGCCTCCTCGGAAGCTTG -3'
(R):5'- TTTATGAGGAGAGTGGAGACCTC -3'

Sequencing Primer
(F):5'- TGATGGAGCCTGCCTCTGTC -3'
(R):5'- AGACCTCAACACGGGCTTGAG -3'

Posted On

2015-04-30