Mutagenetix > Incidental Mutation

Incidental Mutation 'R6599:4930579F01Rik'

525103

Institutional Source

Beutler Lab

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

MMRRC Submission

044723-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R6599 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137882250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 150 (H150R)

Ref Sequence

ENSEMBL: ENSMUSP00000012186 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV9

Predicted Effect

probably benign
Transcript: ENSMUST00000012186
AA Change: H150R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: H150R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199293
AA Change: H25R

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

SMART Domains

Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042
AA Change: H25R

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.9%

Validation Efficiency

94% (32/34)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	C	T	2: 22,959,092 (GRCm39)		probably benign	Het
Adcyap1r1	G	A	6: 55,456,979 (GRCm39)	V237M	probably damaging	Het
Akr1c6	T	G	13: 4,499,318 (GRCm39)		probably null	Het
Ccdc7b	T	A	8: 129,893,462 (GRCm39)	F96L	probably benign	Het
Cubn	T	C	2: 13,315,484 (GRCm39)	H2983R	possibly damaging	Het
Dhx40	T	A	11: 86,695,175 (GRCm39)	I112L	possibly damaging	Het
Dnmbp	A	T	19: 43,845,025 (GRCm39)	D1070E	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ep300	G	C	15: 81,470,914 (GRCm39)	D29H	unknown	Het
Exoc3	T	C	13: 74,337,277 (GRCm39)		probably null	Het
Fcsk	A	T	8: 111,619,915 (GRCm39)		probably null	Het
Gm6401	C	A	14: 41,788,821 (GRCm39)	E83*	probably null	Het
Gm8267	G	T	14: 44,955,367 (GRCm39)	T218K	possibly damaging	Het
H1f3	T	C	13: 23,739,451 (GRCm39)		probably null	Het
Hif3a	T	A	7: 16,776,530 (GRCm39)	D470V	possibly damaging	Het
Igf2r	T	C	17: 12,917,505 (GRCm39)	S1526G	possibly damaging	Het
Lrp2	T	C	2: 69,299,749 (GRCm39)	D3101G	probably damaging	Het
Megf6	A	G	4: 154,342,544 (GRCm39)		probably null	Het
Mthfs	G	A	9: 89,121,961 (GRCm39)	G149D	probably damaging	Het
Nnmt	T	C	9: 48,514,669 (GRCm39)	D116G	probably benign	Het
Nqo2	T	C	13: 34,163,539 (GRCm39)	F22S	probably damaging	Het
Or1e29	T	A	11: 73,667,506 (GRCm39)	M216L	probably benign	Het
Or7e175	T	C	9: 20,049,239 (GRCm39)	S276P	probably damaging	Het
Parm1	T	C	5: 91,741,718 (GRCm39)	S29P	possibly damaging	Het
Prokr2	C	T	2: 132,215,469 (GRCm39)	V331M	possibly damaging	Het
Ptch1	T	A	13: 63,670,918 (GRCm39)	I871F	probably damaging	Het
Rps6ka5	C	A	12: 100,564,168 (GRCm39)	G227V	probably damaging	Het
Tcaim	C	T	9: 122,663,844 (GRCm39)	Q445*	probably null	Het
Trappc14	G	T	5: 138,261,720 (GRCm39)		probably null	Het
Trpc7	T	C	13: 56,958,193 (GRCm39)		probably null	Het
Ubxn7	A	G	16: 32,203,743 (GRCm39)	E465G	probably damaging	Het
Unk	G	A	11: 115,938,628 (GRCm39)	R77Q	probably damaging	Het
Vmn1r226	A	T	17: 20,908,551 (GRCm39)	N261I	probably benign	Het
Vmn1r87	T	A	7: 12,865,886 (GRCm39)	K134*	probably null	Het
Vmn2r10	T	A	5: 109,143,944 (GRCm39)	I669L	probably benign	Het
Vmn2r115	A	G	17: 23,565,006 (GRCm39)	I298V	probably benign	Het
Yipf2	T	C	9: 21,501,144 (GRCm39)	K85E	probably damaging	Het
Zfp979	A	T	4: 147,698,083 (GRCm39)	C209S	probably benign	Het

Other mutations in 4930579F01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:4930579F01Rik	APN	3	137,891,959 (GRCm39)	intron	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- TCATACCCCTGTGACACTGC -3'
(R):5'- TTCCTATGCAAGCAGACTCTC -3'

Sequencing Primer
(F):5'- TGTGACACTGCTGTTCACTAG -3'
(R):5'- TCCTATGCAAGCAGACTCTCAAATAC -3'

Posted On

2018-06-22