Mutagenetix > Incidental Mutation

Incidental Mutation 'R2899:4930430A15Rik'

261401

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

040487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2899 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 111220670 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577]

AlphaFold

Q05AC5

Predicted Effect

probably benign
Transcript: ENSMUST00000028577

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,682 (GRCm38)	K211E	probably benign	Het
Amigo3	T	C	9: 108,054,154 (GRCm38)	S259P	probably benign	Het
Bahd1	C	T	2: 118,916,406 (GRCm38)	P169S	probably damaging	Het
Cd200r4	T	C	16: 44,833,365 (GRCm38)	I175T	probably damaging	Het
Cep131	T	C	11: 120,072,028 (GRCm38)	D425G	probably benign	Het
Clmp	T	C	9: 40,782,392 (GRCm38)	S302P	probably damaging	Het
Dusp6	T	C	10: 99,263,845 (GRCm38)	S52P	probably damaging	Het
Epha5	T	A	5: 84,233,808 (GRCm38)	I395F	probably damaging	Het
F5	A	G	1: 164,186,900 (GRCm38)	E580G	possibly damaging	Het
Fbxo3	T	A	2: 104,051,135 (GRCm38)	Y271N	probably damaging	Het
Fuca1	G	A	4: 135,923,012 (GRCm38)	W131*	probably null	Het
Gdf7	C	T	12: 8,298,470 (GRCm38)	A276T	unknown	Het
Limk1	A	T	5: 134,688,300 (GRCm38)		probably null	Het
Lrrc37a	G	A	11: 103,497,864 (GRCm38)	T2245I	unknown	Het
Neb	A	G	2: 52,185,323 (GRCm38)	I210T	probably benign	Het
Nf1	T	G	11: 79,412,758 (GRCm38)	N420K	possibly damaging	Het
Olfr1453	T	A	19: 13,027,694 (GRCm38)	I212F	probably damaging	Het
Pask	G	T	1: 93,334,547 (GRCm38)	T197K	probably damaging	Het
Pou4f3	T	C	18: 42,395,523 (GRCm38)	L177P	probably benign	Het
Rassf1	G	A	9: 107,554,194 (GRCm38)	G107R	probably null	Het
Rdx	T	C	9: 52,068,911 (GRCm38)		probably benign	Het
Saraf	T	C	8: 34,161,231 (GRCm38)	L77P	probably damaging	Het
Syngap1	A	G	17: 26,959,985 (GRCm38)	E483G	probably damaging	Het
Tsku	T	C	7: 98,352,917 (GRCm38)	N69S	probably damaging	Het
Usp36	G	A	11: 118,276,756 (GRCm38)		probably benign	Het
Vmn2r-ps159	G	T	4: 156,334,397 (GRCm38)		noncoding transcript	Het
Zc3h6	T	C	2: 129,002,232 (GRCm38)	V232A	probably benign	Het
Zfp143	T	A	7: 110,072,129 (GRCm38)	S99R	probably damaging	Het
Zkscan3	A	T	13: 21,393,973 (GRCm38)	L219Q	probably damaging	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111,220,762 (GRCm38)	missense	probably damaging	0.98
IGL01403:4930430A15Rik	APN	2	111,229,170 (GRCm38)	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111,225,395 (GRCm38)	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111,193,478 (GRCm38)	missense	unknown
IGL01649:4930430A15Rik	APN	2	111,214,576 (GRCm38)	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111,211,651 (GRCm38)	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111,228,325 (GRCm38)	missense	probably damaging	0.97
IGL02620:4930430A15Rik	APN	2	111,211,625 (GRCm38)	missense	probably benign	0.00
IGL03156:4930430A15Rik	APN	2	111,200,412 (GRCm38)	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111,164,473 (GRCm38)	missense	unknown
R0577:4930430A15Rik	UTSW	2	111,194,349 (GRCm38)	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111,214,583 (GRCm38)	critical splice donor site	probably null
R0671:4930430A15Rik	UTSW	2	111,204,137 (GRCm38)	missense	possibly damaging	0.93
R0829:4930430A15Rik	UTSW	2	111,198,105 (GRCm38)	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111,225,403 (GRCm38)	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111,200,358 (GRCm38)	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111,218,627 (GRCm38)	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111,220,774 (GRCm38)	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111,200,418 (GRCm38)	missense	probably damaging	0.96
R2965:4930430A15Rik	UTSW	2	111,204,019 (GRCm38)	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111,228,054 (GRCm38)	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111,220,702 (GRCm38)	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111,204,145 (GRCm38)	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111,218,616 (GRCm38)	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111,193,459 (GRCm38)	missense	unknown
R5057:4930430A15Rik	UTSW	2	111,225,421 (GRCm38)	missense	probably benign	0.12
R5128:4930430A15Rik	UTSW	2	111,164,329 (GRCm38)	nonsense	probably null
R5250:4930430A15Rik	UTSW	2	111,228,077 (GRCm38)	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111,194,337 (GRCm38)	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111,215,599 (GRCm38)	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111,211,565 (GRCm38)	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111,204,123 (GRCm38)	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111,225,492 (GRCm38)	nonsense	probably null
R6170:4930430A15Rik	UTSW	2	111,227,948 (GRCm38)	missense	probably benign	0.03
R6366:4930430A15Rik	UTSW	2	111,169,592 (GRCm38)	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111,164,472 (GRCm38)	missense	unknown
R6654:4930430A15Rik	UTSW	2	111,171,884 (GRCm38)	missense	unknown
R6983:4930430A15Rik	UTSW	2	111,228,250 (GRCm38)	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111,193,481 (GRCm38)	missense	unknown
R7958:4930430A15Rik	UTSW	2	111,170,325 (GRCm38)	missense	unknown
R8421:4930430A15Rik	UTSW	2	111,218,610 (GRCm38)	nonsense	probably null
R8495:4930430A15Rik	UTSW	2	111,229,410 (GRCm38)	start codon destroyed	probably null	0.33
R8534:4930430A15Rik	UTSW	2	111,228,035 (GRCm38)	missense	possibly damaging	0.92
R8671:4930430A15Rik	UTSW	2	111,229,532 (GRCm38)	unclassified	probably benign
R8679:4930430A15Rik	UTSW	2	111,229,222 (GRCm38)	missense	possibly damaging	0.73
R8743:4930430A15Rik	UTSW	2	111,169,672 (GRCm38)	missense	unknown
R8983:4930430A15Rik	UTSW	2	111,200,356 (GRCm38)	missense	probably benign	0.00
R9213:4930430A15Rik	UTSW	2	111,190,354 (GRCm38)	missense	unknown
R9457:4930430A15Rik	UTSW	2	111,170,286 (GRCm38)	missense	unknown
R9723:4930430A15Rik	UTSW	2	111,228,355 (GRCm38)	missense	probably damaging	0.97
R9745:4930430A15Rik	UTSW	2	111,169,663 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGTACTTGGTTCAATCTTCAGC -3'
(R):5'- ACAGAAGGCTTCCTACCCATTC -3'

Sequencing Primer
(F):5'- GGTTCAATCTTCAGCATTTCCAAATC -3'
(R):5'- AATGAACTCTTGCTTACCATAGTG -3'

Posted On

2015-01-23