Mutagenetix > Incidental Mutation

Incidental Mutation 'R7669:4930435E12Rik'

592068

Institutional Source

Beutler Lab

Gene Symbol

4930435E12Rik

Ensembl Gene

ENSMUSG00000022798

Gene Name

RIKEN cDNA 4930435E12 gene

Synonyms

MMRRC Submission

045741-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R7669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38812206-38828749 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 38828091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 219 (D219N)

Ref Sequence

ENSEMBL: ENSMUSP00000113120 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122078]

AlphaFold

A6X8Z9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000122078
AA Change: D219N

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113120
Gene: ENSMUSG00000022798
AA Change: D219N

Domain	Start	End	E-Value	Type
low complexity region	86	97	N/A	INTRINSIC
low complexity region	244	254	N/A	INTRINSIC
low complexity region	307	317	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830411N06Rik	A	G	7: 140,296,321	S569G	possibly damaging	Het
Aars2	C	T	17: 45,520,295	P930S	probably benign	Het
Ada	T	A	2: 163,728,191	K301*	probably null	Het
Alb	T	C	5: 90,463,991	L93P	possibly damaging	Het
Aldh1l1	G	A	6: 90,570,862	G435S	probably benign	Het
Alox12b	A	T	11: 69,169,341	I627F	probably benign	Het
Aloxe3	A	G	11: 69,135,120	I503V	probably benign	Het
Arhgap29	C	T	3: 121,992,812	A342V	probably damaging	Het
BC024139	G	A	15: 76,120,568	P636L	possibly damaging	Het
Bmp6	G	T	13: 38,484,920	R293L	probably damaging	Het
Cfd	G	A	10: 79,891,613		probably null	Het
Csmd1	C	T	8: 15,917,273	A3197T	probably damaging	Het
Flii	G	A	11: 60,722,664	L166F	probably damaging	Het
Fmn1	T	A	2: 113,365,477	N507K	unknown	Het
Foxe1	C	A	4: 46,344,545	R118S	possibly damaging	Het
Fras1	T	C	5: 96,692,624	V1646A	probably benign	Het
Gm14496	A	G	2: 181,995,918	T262A	possibly damaging	Het
Gpbp1	A	T	13: 111,439,124	S282T	probably benign	Het
Gria4	A	T	9: 4,462,029	N641K	probably damaging	Het
Grin2a	T	G	16: 9,992,463	N24T	probably benign	Het
Gstm2	T	G	3: 107,985,676	D40A	probably benign	Het
H2afy	T	C	13: 56,128,333	Y39C	probably damaging	Het
Heatr1	T	A	13: 12,411,262	I657N	probably benign	Het
Kmt2b	T	C	7: 30,583,231	E1102G	possibly damaging	Het
Mgam	T	A	6: 40,659,010	N366K	probably benign	Het
Mier2	A	T	10: 79,549,676	V35E	probably damaging	Het
Mlxipl	T	C	5: 135,132,370	F381S	possibly damaging	Het
Mroh1	A	G	15: 76,451,848	H1474R	possibly damaging	Het
Mtrf1l	G	T	10: 5,815,620	A239E	probably damaging	Het
Nbea	G	T	3: 55,717,779	A2297E	probably damaging	Het
Nectin4	A	G	1: 171,380,259	E73G	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nfia	G	A	4: 97,783,505	V151I	probably damaging	Het
Nol6	A	G	4: 41,118,717	L720P	probably damaging	Het
Olfr58	A	G	9: 19,783,543	N137D	possibly damaging	Het
Olfr772	A	G	10: 129,174,259	F254S	probably damaging	Het
Patj	A	G	4: 98,518,942	E1054G	probably damaging	Het
Pcnx	A	G	12: 81,990,551	D1861G	probably damaging	Het
Prss12	A	G	3: 123,447,396	T80A	probably benign	Het
Sgsm1	C	A	5: 113,253,024	R1000L	probably damaging	Het
Sulf2	T	C	2: 166,093,596	D199G	possibly damaging	Het
Suox	T	C	10: 128,670,911	D416G	probably benign	Het
Syne1	G	A	10: 5,061,531	T38M	probably damaging	Het
Tcf7l2	T	A	19: 55,924,543	C421*	probably null	Het
Traf7	C	A	17: 24,513,308	G143*	probably null	Het
Trappc12	T	C	12: 28,711,958	I544V	probably benign	Het
Trmt1	G	A	8: 84,697,551	V434I	probably benign	Het
Ttc5	T	C	14: 50,777,330	H160R	probably benign	Het
Xirp2	T	A	2: 67,512,177	H1587Q	probably benign	Het
Zfp523	C	T	17: 28,201,041	T220M	probably damaging	Het
Zfp804b	A	T	5: 6,769,362	S1234T	probably damaging	Het

Other mutations in 4930435E12Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01979:4930435E12Rik	APN	16	38,827,893 (GRCm38)	missense	possibly damaging	0.61
IGL01998:4930435E12Rik	APN	16	38,828,224 (GRCm38)	missense	probably benign	0.00
IGL02454:4930435E12Rik	APN	16	38,827,947 (GRCm38)	missense	probably benign	0.02
IGL03216:4930435E12Rik	APN	16	38,828,690 (GRCm38)	missense	possibly damaging	0.59
IGL03325:4930435E12Rik	APN	16	38,827,993 (GRCm38)	missense	probably damaging	1.00
IGL03397:4930435E12Rik	APN	16	38,828,693 (GRCm38)	missense	probably damaging	1.00
R7924_4930435E12Rik_239	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB001:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
BB011:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
R0242:4930435E12Rik	UTSW	16	38,824,567 (GRCm38)	splice site	probably benign
R0446:4930435E12Rik	UTSW	16	38,828,702 (GRCm38)	missense	probably benign	0.01
R0607:4930435E12Rik	UTSW	16	38,828,364 (GRCm38)	missense	probably benign	0.02
R1918:4930435E12Rik	UTSW	16	38,828,088 (GRCm38)	missense	possibly damaging	0.56
R1953:4930435E12Rik	UTSW	16	38,827,913 (GRCm38)	missense	possibly damaging	0.78
R3417:4930435E12Rik	UTSW	16	38,828,740 (GRCm38)	missense	probably benign	0.17
R4601:4930435E12Rik	UTSW	16	38,828,018 (GRCm38)	missense	probably benign	0.14
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R4860:4930435E12Rik	UTSW	16	38,828,145 (GRCm38)	missense	probably damaging	0.97
R5551:4930435E12Rik	UTSW	16	38,827,974 (GRCm38)	missense	probably benign	0.28
R7568:4930435E12Rik	UTSW	16	38,828,447 (GRCm38)	missense	possibly damaging	0.95
R7623:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7643:4930435E12Rik	UTSW	16	38,827,863 (GRCm38)	missense	probably benign	0.15
R7670:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7671:4930435E12Rik	UTSW	16	38,828,091 (GRCm38)	missense	possibly damaging	0.87
R7924:4930435E12Rik	UTSW	16	38,812,464 (GRCm38)	nonsense	probably null
R9385:4930435E12Rik	UTSW	16	38,828,045 (GRCm38)	missense	probably benign	0.11
RF013:4930435E12Rik	UTSW	16	38,828,001 (GRCm38)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- CTGGACTGGATGAGTAGTACAC -3'
(R):5'- TGATTCCATCAGCCAGCACTG -3'

Sequencing Primer
(F):5'- GGACTGGATGAGTAGTACACTTTAG -3'
(R):5'- CAGCACTGACTATTTATCAGCAAGG -3'

Posted On

2019-11-12