Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02078:4933412E24Rik'

186020

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933412E24Rik

Ensembl Gene

ENSMUSG00000071749

Gene Name

RIKEN cDNA 4933412E24 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02078

Quality Score

Status

Chromosome

Chromosomal Location

59886715-59888462 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59888179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 87 (D87G)

Ref Sequence

ENSEMBL: ENSMUSP00000094154 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096421
AA Change: D87G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000094154
Gene: ENSMUSG00000071749
AA Change: D87G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	C	T	11: 69,786,112 (GRCm39)	R18Q	probably damaging	Het
Atp1a1	A	C	3: 101,499,179 (GRCm39)	V140G	probably damaging	Het
Bmpr1b	G	A	3: 141,576,498 (GRCm39)	P112S	possibly damaging	Het
Chst8	T	A	7: 34,374,759 (GRCm39)	N360I	possibly damaging	Het
Cldn23	A	T	8: 36,293,359 (GRCm39)	V43E	possibly damaging	Het
Clta	T	C	4: 44,030,232 (GRCm39)	F168S	probably damaging	Het
Cyp2c40	T	C	19: 39,755,926 (GRCm39)	I463V	probably benign	Het
E2f2	A	G	4: 135,920,323 (GRCm39)	D436G	probably damaging	Het
Fbxo24	T	G	5: 137,622,611 (GRCm39)	T52P	probably damaging	Het
Gria4	G	A	9: 4,793,878 (GRCm39)	A60V	probably damaging	Het
Grm1	C	T	10: 10,565,354 (GRCm39)	V985M	probably benign	Het
Hexa	A	G	9: 59,464,586 (GRCm39)	T159A	probably benign	Het
Inf2	T	A	12: 112,568,048 (GRCm39)	V200E	probably damaging	Het
Kif20b	T	A	19: 34,913,044 (GRCm39)	V319E	probably damaging	Het
Klhl10	A	G	11: 100,336,577 (GRCm39)	D188G	probably benign	Het
Mobp	G	A	9: 119,996,980 (GRCm39)	R37H	probably damaging	Het
Mybpc2	T	A	7: 44,153,204 (GRCm39)	D1086V	probably damaging	Het
Nadk	A	C	4: 155,663,860 (GRCm39)		probably benign	Het
Or7g33	T	A	9: 19,448,749 (GRCm39)	H159L	probably benign	Het
Per1	A	G	11: 68,995,125 (GRCm39)	E619G	probably damaging	Het
Rab3gap1	G	A	1: 127,796,652 (GRCm39)		probably benign	Het
Rimkla	A	G	4: 119,325,344 (GRCm39)	L355P	probably damaging	Het
Rnf139	A	G	15: 58,771,880 (GRCm39)	D635G	possibly damaging	Het
Sall1	T	A	8: 89,757,003 (GRCm39)	N1034Y	probably damaging	Het
Serpinb13	A	T	1: 106,926,688 (GRCm39)	Q228L	probably damaging	Het
Sin3b	G	T	8: 73,480,208 (GRCm39)	M903I	possibly damaging	Het
Slco1a5	A	T	6: 142,200,172 (GRCm39)	M204K	probably benign	Het
Smo	A	G	6: 29,754,707 (GRCm39)	D259G	possibly damaging	Het
Spata31g1	A	C	4: 42,972,685 (GRCm39)	K673Q	possibly damaging	Het
Sult2a4	T	C	7: 13,723,469 (GRCm39)	I15M	probably benign	Het
Ttn	T	A	2: 76,772,785 (GRCm39)		probably null	Het
Wdtc1	C	A	4: 133,033,271 (GRCm39)	D176Y	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
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
R4039:4933412E24Rik	UTSW	15	59,888,215 (GRCm39)	missense	possibly damaging	0.95
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

Posted On

2014-05-07