Mutagenetix > Incidental Mutation

Incidental Mutation 'R9154:4930590J08Rik'

695225

Institutional Source

Beutler Lab

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9154 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91879790-91927706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91926926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 862 (V862A)

Ref Sequence

ENSEMBL: ENSMUSP00000146101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059318] [ENSMUST00000205686]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059318
AA Change: V862A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: V862A

Domain	Start	End	E-Value	Type
low complexity region	89	109	N/A	INTRINSIC
Pfam:FAM194	357	561	4.1e-68	PFAM
low complexity region	626	637	N/A	INTRINSIC
transmembrane domain	774	796	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000205569

Predicted Effect

probably benign
Transcript: ENSMUST00000205686
AA Change: V862A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,645,512 (GRCm39)	K1019M	probably damaging	Het
Acot6	G	T	12: 84,147,789 (GRCm39)	W15L	possibly damaging	Het
Adam32	CCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAG	8: 25,438,769 (GRCm39)		probably benign	Het
Adnp	C	A	2: 168,026,580 (GRCm39)	Q238H	possibly damaging	Het
Akap7	T	C	10: 25,047,053 (GRCm39)	Y281C	probably damaging	Het
Ank1	A	G	8: 23,605,387 (GRCm39)	E1085G	probably damaging	Het
Arhgef38	A	T	3: 132,837,924 (GRCm39)	S669T	unknown	Het
Atp8b2	A	T	3: 89,865,927 (GRCm39)	S50R	possibly damaging	Het
Atp8b5	T	C	4: 43,372,630 (GRCm39)	I1090T	probably benign	Het
Ccdc198	A	T	14: 49,473,367 (GRCm39)	H129Q	probably benign	Het
Chrna4	G	A	2: 180,670,602 (GRCm39)	R385C	probably damaging	Het
Col4a1	T	A	8: 11,267,446 (GRCm39)	I1105F	probably damaging	Het
Crybg2	G	A	4: 133,792,620 (GRCm39)	R85Q	probably benign	Het
Cspg4	T	A	9: 56,798,287 (GRCm39)	L1434Q		Het
Cyp3a13	T	C	5: 137,919,758 (GRCm39)	N6S	probably benign	Het
Dnase2b	A	T	3: 146,299,326 (GRCm39)	Y42*	probably null	Het
F11r	A	G	1: 171,289,376 (GRCm39)	E233G	probably damaging	Het
Fip1l1	T	C	5: 74,747,703 (GRCm39)	I390T	possibly damaging	Het
Fiz1	G	A	7: 5,011,280 (GRCm39)	R413C	probably damaging	Het
Fus	G	A	7: 127,580,440 (GRCm39)	G450E	unknown	Het
Gm11569	C	A	11: 99,689,267 (GRCm39)	C144F	unknown	Het
Gm7298	A	T	6: 121,756,436 (GRCm39)	Y1027F	probably damaging	Het
Grik5	C	A	7: 24,758,403 (GRCm39)	W340L	probably damaging	Het
H1f2	A	G	13: 23,923,373 (GRCm39)	K181R	unknown	Het
Hectd4	G	A	5: 121,391,967 (GRCm39)	R77H		Het
Ift81	C	A	5: 122,689,122 (GRCm39)	V665L	probably benign	Het
Ints2	A	G	11: 86,125,524 (GRCm39)	F559L	probably damaging	Het
Kdm8	G	A	7: 125,054,296 (GRCm39)	V176I	probably benign	Het
Keap1	A	T	9: 21,142,121 (GRCm39)	Y584*	probably null	Het
Klra1	T	C	6: 130,357,607 (GRCm39)	T7A		Het
Lmo7	T	A	14: 102,122,743 (GRCm39)	W311R	probably damaging	Het
Lrp6	A	G	6: 134,518,855 (GRCm39)	V70A	probably damaging	Het
Luc7l3	A	T	11: 94,190,793 (GRCm39)	S174T	unknown	Het
Madd	T	C	2: 90,998,162 (GRCm39)	T653A	probably damaging	Het
Mlph	G	T	1: 90,855,716 (GRCm39)	G41V	probably damaging	Het
Mov10l1	A	G	15: 88,896,118 (GRCm39)	E654G	possibly damaging	Het
Mpp3	T	C	11: 101,911,328 (GRCm39)	I165V		Het
Mrgpra2a	T	G	7: 47,076,394 (GRCm39)	Y288S	probably damaging	Het
Mroh9	T	A	1: 162,890,030 (GRCm39)	M236L		Het
Muc5b	A	C	7: 141,417,974 (GRCm39)	K3640T	probably damaging	Het
Myh13	A	G	11: 67,253,318 (GRCm39)	I1485V	probably benign	Het
Nf2	A	T	11: 4,744,873 (GRCm39)	F285L	probably damaging	Het
Nfx1	T	A	4: 40,990,845 (GRCm39)	C471S	probably damaging	Het
Nsd1	C	T	13: 55,361,253 (GRCm39)	R74W	probably damaging	Het
Nudt16l1	A	T	16: 4,758,281 (GRCm39)	*212C	probably null	Het
Oaf	T	C	9: 43,133,992 (GRCm39)	Y243C	probably damaging	Het
Or51e1	T	C	7: 102,358,541 (GRCm39)	V25A	probably benign	Het
Or6c3	T	C	10: 129,308,690 (GRCm39)	I43T	probably benign	Het
Or7g30	T	A	9: 19,352,531 (GRCm39)	F107L	probably benign	Het
Or7h8	A	G	9: 20,124,173 (GRCm39)	H176R	possibly damaging	Het
Or8b36	T	A	9: 37,937,690 (GRCm39)	L196*	probably null	Het
Parp9	T	C	16: 35,768,543 (GRCm39)	I241T	probably damaging	Het
Phlpp2	G	T	8: 110,666,590 (GRCm39)	A1040S	possibly damaging	Het
Pon2	A	T	6: 5,265,391 (GRCm39)	V332E	possibly damaging	Het
Ptprc	A	G	1: 138,016,302 (GRCm39)	V544A	probably damaging	Het
Rfx6	A	G	10: 51,597,600 (GRCm39)	S446G	probably benign	Het
Rnf103	T	A	6: 71,487,099 (GRCm39)	C577S	probably benign	Het
Ros1	T	G	10: 51,922,301 (GRCm39)	E2278D	possibly damaging	Het
Rpl37	A	G	15: 5,147,109 (GRCm39)	S50G	probably benign	Het
Rrad	C	T	8: 105,355,343 (GRCm39)	V222M	possibly damaging	Het
Ryr1	T	C	7: 28,769,283 (GRCm39)	T2770A	probably benign	Het
Secisbp2l	G	A	2: 125,617,623 (GRCm39)	P18L	probably damaging	Het
Septin2	T	A	1: 93,429,310 (GRCm39)	W260R	probably damaging	Het
Slc35c2	A	G	2: 165,122,797 (GRCm39)	M117T	probably benign	Het
Slc44a5	A	G	3: 153,953,373 (GRCm39)	T252A	probably benign	Het
Speer4f2	T	A	5: 17,581,610 (GRCm39)	L184Q		Het
Sphkap	C	G	1: 83,234,982 (GRCm39)	V1615L	probably damaging	Het
Sult2a3	C	T	7: 13,806,981 (GRCm39)	V234I	probably benign	Het
Tanc1	T	C	2: 59,630,132 (GRCm39)	L704P	probably damaging	Het
Tas2r126	T	C	6: 42,412,174 (GRCm39)	S236P	probably benign	Het
Tnik	A	G	3: 28,704,235 (GRCm39)	I1020V	probably damaging	Het
Tomm5	T	C	4: 45,106,724 (GRCm39)	Q64R	unknown	Het
Ttll13	A	G	7: 79,897,182 (GRCm39)	E16G	probably benign	Het
Vmn1r21	C	A	6: 57,821,348 (GRCm39)	C32F	probably benign	Het
Vmn2r51	T	A	7: 9,839,480 (GRCm39)	D36V	probably damaging	Het
Vmn2r63	C	T	7: 42,576,413 (GRCm39)	D467N	probably damaging	Het
Vwce	A	G	19: 10,625,850 (GRCm39)	N454S	possibly damaging	Het
Wfdc1	A	C	8: 120,406,116 (GRCm39)	D77A		Het
Yme1l1	T	A	2: 23,077,815 (GRCm39)	I419N	probably damaging	Het
Zfp106	G	A	2: 120,364,812 (GRCm39)	Q555*	probably null	Het
Zfp773	A	C	7: 7,138,302 (GRCm39)	M111R	probably damaging	Het
Zmat3	G	A	3: 32,397,767 (GRCm39)	A165V	possibly damaging	Het

Other mutations in 4930590J08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01090:4930590J08Rik	APN	6	91,896,099 (GRCm39)	missense	possibly damaging	0.74
IGL01478:4930590J08Rik	APN	6	91,911,590 (GRCm39)	missense	probably benign	0.01
IGL01481:4930590J08Rik	APN	6	91,910,079 (GRCm39)	missense	probably damaging	1.00
IGL01485:4930590J08Rik	APN	6	91,927,003 (GRCm39)	missense	probably damaging	0.96
IGL01794:4930590J08Rik	APN	6	91,895,093 (GRCm39)	nonsense	probably null
IGL01795:4930590J08Rik	APN	6	91,895,093 (GRCm39)	nonsense	probably null
IGL02040:4930590J08Rik	APN	6	91,895,091 (GRCm39)	missense	probably benign
IGL02171:4930590J08Rik	APN	6	91,921,237 (GRCm39)	missense	probably benign	0.01
IGL02968:4930590J08Rik	APN	6	91,900,454 (GRCm39)	missense	probably damaging	1.00
IGL03358:4930590J08Rik	APN	6	91,905,716 (GRCm39)	missense	probably damaging	1.00
PIT4519001:4930590J08Rik	UTSW	6	91,894,038 (GRCm39)	missense	probably damaging	1.00
R0531:4930590J08Rik	UTSW	6	91,892,127 (GRCm39)	missense	probably benign
R0569:4930590J08Rik	UTSW	6	91,919,559 (GRCm39)	nonsense	probably null
R1536:4930590J08Rik	UTSW	6	91,894,016 (GRCm39)	missense	probably benign	0.20
R1730:4930590J08Rik	UTSW	6	91,896,259 (GRCm39)	missense	possibly damaging	0.60
R1758:4930590J08Rik	UTSW	6	91,892,203 (GRCm39)	missense	possibly damaging	0.79
R1783:4930590J08Rik	UTSW	6	91,896,259 (GRCm39)	missense	possibly damaging	0.60
R1911:4930590J08Rik	UTSW	6	91,927,050 (GRCm39)	splice site	probably benign
R1930:4930590J08Rik	UTSW	6	91,892,002 (GRCm39)	missense	probably benign	0.01
R1936:4930590J08Rik	UTSW	6	91,894,061 (GRCm39)	missense	possibly damaging	0.90
R2157:4930590J08Rik	UTSW	6	91,919,468 (GRCm39)	missense	possibly damaging	0.48
R2157:4930590J08Rik	UTSW	6	91,894,679 (GRCm39)	splice site	probably null
R4072:4930590J08Rik	UTSW	6	91,922,342 (GRCm39)	splice site	probably null
R4662:4930590J08Rik	UTSW	6	91,891,939 (GRCm39)	missense	probably benign
R4900:4930590J08Rik	UTSW	6	91,895,091 (GRCm39)	missense	probably benign
R4936:4930590J08Rik	UTSW	6	91,921,245 (GRCm39)	missense	probably damaging	1.00
R5394:4930590J08Rik	UTSW	6	91,896,174 (GRCm39)	missense	probably benign	0.00
R5887:4930590J08Rik	UTSW	6	91,892,124 (GRCm39)	nonsense	probably null
R5931:4930590J08Rik	UTSW	6	91,896,096 (GRCm39)	missense	probably damaging	1.00
R6174:4930590J08Rik	UTSW	6	91,919,517 (GRCm39)	missense	probably damaging	0.99
R6179:4930590J08Rik	UTSW	6	91,919,311 (GRCm39)	missense	probably damaging	0.96
R6380:4930590J08Rik	UTSW	6	91,900,118 (GRCm39)	missense	probably damaging	1.00
R6531:4930590J08Rik	UTSW	6	91,926,980 (GRCm39)	missense	possibly damaging	0.88
R7570:4930590J08Rik	UTSW	6	91,911,591 (GRCm39)	missense	probably benign	0.03
R7860:4930590J08Rik	UTSW	6	91,905,707 (GRCm39)	missense	probably damaging	1.00
R7936:4930590J08Rik	UTSW	6	91,900,445 (GRCm39)	nonsense	probably null
R7958:4930590J08Rik	UTSW	6	91,911,464 (GRCm39)	missense	probably benign	0.02
R7968:4930590J08Rik	UTSW	6	91,922,441 (GRCm39)	missense
R8111:4930590J08Rik	UTSW	6	91,894,691 (GRCm39)	missense	probably benign
R8953:4930590J08Rik	UTSW	6	91,892,002 (GRCm39)	missense	probably benign	0.01
R9084:4930590J08Rik	UTSW	6	91,892,016 (GRCm39)	missense	probably damaging	0.97
R9319:4930590J08Rik	UTSW	6	91,922,446 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAATGGTCCTCAGGTTCCAAG -3'
(R):5'- TGCTATGGAAGGCCTTCATG -3'

Sequencing Primer
(F):5'- GGTTCCAAGAACAAACACTTTCTC -3'
(R):5'- CTGTGTCCAAGCTGGGGAATC -3'

Posted On

2022-01-20