Mutagenetix > Incidental Mutation

Incidental Mutation 'R3978:4930579F01Rik'

311111

Institutional Source

Beutler Lab

Gene Symbol

4930579F01Rik

Ensembl Gene

ENSMUSG00000012042

Gene Name

RIKEN cDNA 4930579F01 gene

Synonyms

MMRRC Submission

040941-MU

Accession Numbers

Essential gene?

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

Stock #

R3978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137869839-137899592 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137889435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 61 (T61A)

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: T61A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000012186
Gene: ENSMUSG00000012042
AA Change: T61A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	A	G	14: 68,848,443 (GRCm39)	V671A	probably benign	Het
Ankhd1	A	T	18: 36,780,666 (GRCm39)	H1906L	probably damaging	Het
Ano5	G	A	7: 51,237,554 (GRCm39)	V743I	probably benign	Het
Arfgef1	A	G	1: 10,279,859 (GRCm39)	V236A	probably benign	Het
Arid2	A	G	15: 96,261,503 (GRCm39)	D453G	probably damaging	Het
Atp2b1	C	A	10: 98,832,795 (GRCm39)		probably null	Het
Azin1	A	T	15: 38,498,957 (GRCm39)	N135K	probably damaging	Het
B020004C17Rik	G	T	14: 57,254,645 (GRCm39)	M156I	possibly damaging	Het
Cfap54	T	C	10: 92,798,274 (GRCm39)	T1662A	probably benign	Het
Cog8	T	A	8: 107,779,669 (GRCm39)	I203F	probably damaging	Het
Col6a6	T	C	9: 105,576,078 (GRCm39)	H2094R	probably damaging	Het
Cybb	T	C	X: 9,310,827 (GRCm39)	Y425C	probably damaging	Het
Dab2	A	G	15: 6,464,644 (GRCm39)		probably null	Het
Dpyd	AAAT	AAATGTATATAAAT	3: 118,690,737 (GRCm39)		probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Eif3i	T	C	4: 129,486,129 (GRCm39)	E276G	probably damaging	Het
Fam171a1	A	C	2: 3,226,072 (GRCm39)	M402L	probably benign	Het
Fga	A	T	3: 82,937,490 (GRCm39)		probably null	Het
Foxp2	A	G	6: 15,197,207 (GRCm39)		probably benign	Het
Gbp2	C	T	3: 142,335,747 (GRCm39)	T149I	possibly damaging	Het
Gm9631	A	G	11: 121,834,394 (GRCm39)	Y281H	possibly damaging	Het
Gpr21	C	T	2: 37,407,862 (GRCm39)	T136I	probably benign	Het
Gprc5b	C	T	7: 118,583,354 (GRCm39)	V172M	probably damaging	Het
Gprc6a	C	A	10: 51,497,197 (GRCm39)	V449L	probably benign	Het
Hdlbp	T	C	1: 93,349,073 (GRCm39)	I535V	probably damaging	Het
Helb	A	G	10: 119,925,530 (GRCm39)	V949A	probably benign	Het
Hoxc13	T	C	15: 102,829,675 (GRCm39)	V18A	possibly damaging	Het
Hr	A	G	14: 70,801,024 (GRCm39)	T699A	probably benign	Het
Il27ra	G	A	8: 84,767,313 (GRCm39)	T170I	probably benign	Het
Insm2	T	C	12: 55,647,623 (GRCm39)	Y456H	probably benign	Het
Katna1	T	C	10: 7,628,518 (GRCm39)	M249T	probably damaging	Het
Lin9	T	A	1: 180,496,357 (GRCm39)	I298N	possibly damaging	Het
Lyst	G	A	13: 13,808,753 (GRCm39)	R141Q	possibly damaging	Het
Nos3	T	A	5: 24,582,929 (GRCm39)	D685E	probably damaging	Het
Oasl1	C	T	5: 115,070,957 (GRCm39)	T274I	probably damaging	Het
Or5p61	A	G	7: 107,758,819 (GRCm39)	M87T	possibly damaging	Het
Pdgfrb	A	T	18: 61,206,757 (GRCm39)	H661L	probably damaging	Het
Ppfia2	A	G	10: 106,666,490 (GRCm39)	T399A	possibly damaging	Het
Ppp1ca	T	C	19: 4,242,253 (GRCm39)	I13T	probably benign	Het
Psmd1	T	C	1: 86,055,909 (GRCm39)	M757T	probably benign	Het
Rdh19	A	T	10: 127,685,944 (GRCm39)	R19W	possibly damaging	Het
Rfx7	A	G	9: 72,522,393 (GRCm39)	T296A	possibly damaging	Het
Rgl2	G	A	17: 34,154,136 (GRCm39)	R472H	probably benign	Het
Rhcg	T	C	7: 79,267,147 (GRCm39)	E43G	probably benign	Het
Rif1	T	A	2: 52,006,759 (GRCm39)		probably null	Het
Rorb	A	G	19: 18,915,254 (GRCm39)	V468A	probably benign	Het
Rxrb	C	T	17: 34,255,300 (GRCm39)	P209L	possibly damaging	Het
Sbf2	G	T	7: 109,929,092 (GRCm39)	T1438K	probably benign	Het
Setd3	A	T	12: 108,124,201 (GRCm39)	C163S	possibly damaging	Het
Slc15a1	C	T	14: 121,727,239 (GRCm39)	D110N	probably benign	Het
Slc26a3	T	A	12: 31,515,859 (GRCm39)		probably null	Het
Slc5a5	A	G	8: 71,342,039 (GRCm39)	V305A	probably benign	Het
Slc6a6	A	T	6: 91,732,033 (GRCm39)	M621L	probably benign	Het
Smgc	A	T	15: 91,744,546 (GRCm39)	D301V	probably damaging	Het
Spata31d1c	A	G	13: 65,182,974 (GRCm39)	D172G	possibly damaging	Het
Syt15	T	A	14: 33,945,061 (GRCm39)	C203S	probably benign	Het
Tdrd1	A	G	19: 56,855,066 (GRCm39)	R1171G	probably benign	Het
Trp63	A	G	16: 25,639,490 (GRCm39)		probably benign	Het
Tspan9	A	G	6: 127,944,210 (GRCm39)	V30A	probably damaging	Het
Ubp1	A	T	9: 113,785,773 (GRCm39)		probably null	Het
Vmn2r68	T	A	7: 84,881,670 (GRCm39)	Y470F	probably benign	Het
Wbp1l	T	A	19: 46,642,396 (GRCm39)		probably null	Het
Wee1	G	T	7: 109,723,762 (GRCm39)	D226Y	probably damaging	Het
Yap1	C	T	9: 8,004,285 (GRCm39)	G36D	probably damaging	Het
Zmym6	T	C	4: 127,017,348 (GRCm39)	I951T	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CAGCAGATTTAAGCAAGCAGATTTC -3'
(R):5'- ACTCTAGTGGGAAGTACTGGG -3'

Sequencing Primer
(F):5'- AGATTTCCTCCAGTCACTTGCAAGAG -3'
(R):5'- TGTGACACATGTGTTCTGAACAG -3'

Posted On

2015-04-29