Mutagenetix > Incidental Mutation

Incidental Mutation 'R5812:4930579F01Rik'

447547

Institutional Source

Beutler Lab

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R5812 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137882299 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 9 (S9P)

Ref Sequence

ENSEMBL: ENSMUSP00000142940 (fasta)

Gene Model

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

AlphaFold

A0A5F8MPV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000012186
AA Change: S134P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: S134P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199293
AA Change: S9P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142940
Gene: ENSMUSG00000012042
AA Change: S9P

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,654,693 (GRCm39)	Y176N	probably damaging	Het
Acsl5	G	A	19: 55,283,268 (GRCm39)	V615I	probably benign	Het
Ankk1	T	C	9: 49,338,153 (GRCm39)	K47E	probably benign	Het
Ankrd11	A	T	8: 123,620,544 (GRCm39)		probably null	Het
Bcl9l	T	C	9: 44,417,941 (GRCm39)	V593A	probably benign	Het
Cadps	T	C	14: 12,376,685 (GRCm38)	I1271V	probably benign	Het
Ccdc125	T	C	13: 100,820,812 (GRCm39)	W152R	probably damaging	Het
Cep192	T	C	18: 67,984,808 (GRCm39)	V1606A	possibly damaging	Het
Csgalnact1	T	C	8: 68,854,036 (GRCm39)	N255S	probably benign	Het
Cxxc5	T	A	18: 35,992,109 (GRCm39)	V170E	probably damaging	Het
Defb6	C	T	8: 19,278,110 (GRCm39)	R61C	possibly damaging	Het
Dnah10	T	A	5: 124,824,810 (GRCm39)	N655K	probably benign	Het
Fry	G	A	5: 150,323,136 (GRCm39)	A1096T	probably damaging	Het
Gli1	C	T	10: 127,173,284 (GRCm39)	G125S	probably damaging	Het
Igkv14-126	A	T	6: 67,873,424 (GRCm39)	I51F	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jtb	T	C	3: 90,141,284 (GRCm39)	S87P	probably benign	Het
Kdm6b	A	T	11: 69,296,755 (GRCm39)	I504N	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Map2k4	A	G	11: 65,626,031 (GRCm39)	I136T	probably damaging	Het
Marchf4	T	C	1: 72,468,076 (GRCm39)	T319A	probably benign	Het
Nr2e3	TCCATCGGAGTGTTCCC	TC	9: 59,850,701 (GRCm39)		probably benign	Het
Nt5e	T	C	9: 88,251,108 (GRCm39)	V459A	probably damaging	Het
Ogdhl	A	G	14: 32,054,822 (GRCm39)	K257E	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2g25	A	G	17: 37,970,630 (GRCm39)	L198P	probably damaging	Het
Osmr	A	T	15: 6,866,540 (GRCm39)	V378D	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pdzd7	G	T	19: 45,025,310 (GRCm39)	T395K	probably damaging	Het
Rasgef1c	A	G	11: 49,847,970 (GRCm39)	D35G	probably benign	Het
Rbm19	T	C	5: 120,279,642 (GRCm39)	F770L	probably damaging	Het
Rit2	C	A	18: 31,108,514 (GRCm39)	C157F	probably damaging	Het
Slc22a22	A	G	15: 57,119,869 (GRCm39)		probably null	Het
Slc8b1	T	C	5: 120,651,403 (GRCm39)		probably null	Het
Speer2	C	A	16: 69,655,783 (GRCm39)	R14S	possibly damaging	Het
Tas2r105	C	A	6: 131,663,836 (GRCm39)	L197F	possibly damaging	Het
Tmprss11b	T	A	5: 86,812,957 (GRCm39)	H113L	possibly damaging	Het
Ttbk2	G	A	2: 120,653,040 (GRCm39)	P64S	probably damaging	Het
Urb1	A	T	16: 90,601,425 (GRCm39)	H115Q	probably damaging	Het
Vps13c	T	A	9: 67,889,777 (GRCm39)		probably benign	Het
Zbtb39	T	A	10: 127,577,429 (GRCm39)	M1K	probably null	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
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

Predicted Primers

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

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

Posted On

2016-12-15