Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00335:4930579F01Rik'

6747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.047) question?

Stock #

IGL00335

Quality Score

Status

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 137891959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012186] [ENSMUST00000199293]

AlphaFold

A0A5F8MPV9

Predicted Effect

unknown
Transcript: ENSMUST00000012186
AA Change: V4L

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: V4L

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	17	201	1.9e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199293

SMART Domains

Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042

Domain	Start	End	E-Value	Type
Pfam:SPATIAL	1	76	9.6e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199804

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700048O20Rik	C	A	9: 121,769,833 (GRCm39)		noncoding transcript	Het
Aurkc	T	A	7: 6,999,547 (GRCm39)	I18N	probably damaging	Het
Bace1	T	C	9: 45,750,588 (GRCm39)		probably null	Het
Chrne	C	T	11: 70,506,588 (GRCm39)	V311I	probably benign	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Cyp2c70	C	T	19: 40,156,020 (GRCm39)	V177M	probably damaging	Het
Dusp10	A	G	1: 183,801,328 (GRCm39)	E365G	probably benign	Het
Fcgbp	C	A	7: 27,785,560 (GRCm39)	N332K	possibly damaging	Het
Irx4	T	C	13: 73,416,810 (GRCm39)	V402A	probably benign	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Lama3	A	G	18: 12,582,645 (GRCm39)		probably benign	Het
Lhfpl7	A	G	5: 113,383,869 (GRCm39)	R96G	probably benign	Het
Lrrc8b	T	C	5: 105,628,365 (GRCm39)	I237T	probably damaging	Het
Mepe	G	T	5: 104,485,843 (GRCm39)	G328C	probably damaging	Het
Numb	A	G	12: 83,854,906 (GRCm39)	I129T	probably damaging	Het
Or5h25	T	C	16: 58,930,961 (GRCm39)	D4G	probably benign	Het
Or6c209	T	C	10: 129,483,306 (GRCm39)	I103T	probably benign	Het
Osmr	T	C	15: 6,866,504 (GRCm39)	D390G	probably benign	Het
Pglyrp3	G	A	3: 91,929,986 (GRCm39)	V51I	probably damaging	Het
Phactr2	T	C	10: 13,121,279 (GRCm39)	T470A	probably damaging	Het
Psmg1	G	A	16: 95,781,268 (GRCm39)	T259I	possibly damaging	Het
Rtl3	T	C	X: 105,882,543 (GRCm39)	T240A	probably benign	Het
Ryr1	C	T	7: 28,824,385 (GRCm39)		probably null	Het
Slc10a6	A	G	5: 103,756,991 (GRCm39)	S258P	probably benign	Het
Slc1a6	T	C	10: 78,637,647 (GRCm39)	L391P	probably damaging	Het
Slc6a7	C	T	18: 61,134,681 (GRCm39)	V465M	possibly damaging	Het
Sost	T	C	11: 101,857,705 (GRCm39)	D32G	probably damaging	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Tifab	A	G	13: 56,324,282 (GRCm39)	S54P	probably damaging	Het
Tnrc6a	T	A	7: 122,770,003 (GRCm39)	S598T	probably benign	Het
Vmn2r1	T	A	3: 64,012,809 (GRCm39)	I890N	probably damaging	Het
Wapl	A	G	14: 34,414,593 (GRCm39)	D485G	probably benign	Het
Wee2	A	T	6: 40,438,995 (GRCm39)	I373F	probably damaging	Het
Xkr6	A	G	14: 64,056,664 (GRCm39)	T192A	probably damaging	Het
Zfp638	A	G	6: 83,956,700 (GRCm39)	D1769G	probably damaging	Het

Other mutations in 4930579F01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02121:4930579F01Rik	APN	3	137,870,134 (GRCm39)	missense	possibly damaging	0.93
IGL02424:4930579F01Rik	APN	3	137,880,466 (GRCm39)	splice site	probably benign
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0008:4930579F01Rik	UTSW	3	137,882,346 (GRCm39)	missense	possibly damaging	0.67
R0373:4930579F01Rik	UTSW	3	137,879,343 (GRCm39)	missense	probably damaging	0.96
R1082:4930579F01Rik	UTSW	3	137,879,332 (GRCm39)	missense	possibly damaging	0.95
R1163:4930579F01Rik	UTSW	3	137,882,271 (GRCm39)	missense	probably damaging	1.00
R1538:4930579F01Rik	UTSW	3	137,889,517 (GRCm39)	missense	probably damaging	1.00
R2151:4930579F01Rik	UTSW	3	137,882,217 (GRCm39)	critical splice donor site	probably null
R2364:4930579F01Rik	UTSW	3	137,871,584 (GRCm39)	missense	probably benign	0.00
R3978:4930579F01Rik	UTSW	3	137,889,435 (GRCm39)	missense	probably benign	0.01
R4108:4930579F01Rik	UTSW	3	137,889,431 (GRCm39)	missense	probably benign	0.14
R5812:4930579F01Rik	UTSW	3	137,882,299 (GRCm39)	missense	probably damaging	1.00
R5960:4930579F01Rik	UTSW	3	137,889,528 (GRCm39)	missense	possibly damaging	0.58
R6329:4930579F01Rik	UTSW	3	137,879,457 (GRCm39)	missense	probably damaging	1.00
R6599:4930579F01Rik	UTSW	3	137,882,250 (GRCm39)	missense	probably benign	0.00
R6862:4930579F01Rik	UTSW	3	137,891,949 (GRCm39)	intron	probably benign
R6897:4930579F01Rik	UTSW	3	137,889,534 (GRCm39)	missense	possibly damaging	0.85
R7092:4930579F01Rik	UTSW	3	137,889,506 (GRCm39)	missense	probably benign	0.08
R7919:4930579F01Rik	UTSW	3	137,885,311 (GRCm39)	missense	probably damaging	1.00
R8381:4930579F01Rik	UTSW	3	137,879,282 (GRCm39)	critical splice donor site	probably null
R9024:4930579F01Rik	UTSW	3	137,891,923 (GRCm39)	missense	unknown
R9180:4930579F01Rik	UTSW	3	137,889,470 (GRCm39)	missense	probably benign	0.05

Posted On

2012-04-20