Mutagenetix > Incidental Mutation

Incidental Mutation 'R7958:4930590J08Rik'

649941

Institutional Source

Beutler Lab

Gene Symbol

4930590J08Rik

Ensembl Gene

ENSMUSG00000034063

Gene Name

RIKEN cDNA 4930590J08 gene

Synonyms

LOC381798

MMRRC Submission

046002-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7958 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91879790-91927706 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91911464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 571 (T571S)

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: T571S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000053778
Gene: ENSMUSG00000034063
AA Change: T571S

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

probably benign
Transcript: ENSMUST00000205686
AA Change: T571S

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,922,498 (GRCm39)	Y1362H	probably damaging	Het
Aldh1l2	C	T	10: 83,356,202 (GRCm39)	V63I	probably benign	Het
Alg8	T	C	7: 97,036,128 (GRCm39)	C340R	possibly damaging	Het
BC028528	T	C	3: 95,796,224 (GRCm39)	D46G	probably benign	Het
Cdh5	A	T	8: 104,839,649 (GRCm39)	H40L	probably benign	Het
Cul3	T	C	1: 80,249,274 (GRCm39)	T666A	probably benign	Het
Cwc27	T	C	13: 104,941,472 (GRCm39)	D150G	probably benign	Het
Cyp2a12	T	A	7: 26,728,677 (GRCm39)	N49K	probably benign	Het
Dhrs4	T	C	14: 55,725,078 (GRCm39)	L191P	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Fam171a1	T	A	2: 3,179,298 (GRCm39)	S41R	probably damaging	Het
Fam186a	A	T	15: 99,841,189 (GRCm39)	L1685H	probably damaging	Het
Fgfr1	G	T	8: 26,022,358 (GRCm39)	W2L	probably benign	Het
Fpr-rs6	T	A	17: 20,402,705 (GRCm39)	I219F	probably damaging	Het
Gm28360	T	A	1: 117,781,409 (GRCm39)	C133*	probably null	Het
Herc1	A	G	9: 66,393,475 (GRCm39)	D4118G	probably damaging	Het
Hhatl	A	G	9: 121,613,652 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,218 (GRCm39)	L384H	probably damaging	Het
Klhl12	G	A	1: 134,395,455 (GRCm39)	R139K	probably benign	Het
Klrg1	T	A	6: 122,248,331 (GRCm39)	*189C	probably null	Het
Krtap19-4	A	G	16: 88,681,833 (GRCm39)	F41S	unknown	Het
Lifr	T	C	15: 7,211,478 (GRCm39)	V672A	possibly damaging	Het
Lrrc25	A	G	8: 71,070,497 (GRCm39)	T93A	possibly damaging	Het
Map7	T	A	10: 20,105,575 (GRCm39)	S9T	unknown	Het
Mycbp2	A	T	14: 103,367,400 (GRCm39)	F4281L	probably benign	Het
Myh10	A	G	11: 68,612,173 (GRCm39)	I162V	probably benign	Het
Myo18a	T	C	11: 77,732,383 (GRCm39)	V1293A	probably damaging	Het
Nipbl	A	G	15: 8,340,742 (GRCm39)	S1993P	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Oas2	C	T	5: 120,886,831 (GRCm39)	E112K	probably benign	Het
Oosp3	A	T	19: 11,682,820 (GRCm39)	I163F	probably benign	Het
Or8a1	A	G	9: 37,641,682 (GRCm39)	F199S	probably damaging	Het
Phkb	G	T	8: 86,748,292 (GRCm39)	E710D	probably benign	Het
Plekhg4	A	T	8: 106,103,281 (GRCm39)	D318V	possibly damaging	Het
Potefam1	T	C	2: 111,000,670 (GRCm39)	E183G	unknown	Het
Ptprj	T	C	2: 90,299,971 (GRCm39)	I277V	possibly damaging	Het
Ranbp17	A	G	11: 33,437,702 (GRCm39)	S179P	probably damaging	Het
Scaf8	G	A	17: 3,221,397 (GRCm39)	V295M	unknown	Het
Scn3a	T	A	2: 65,336,537 (GRCm39)	I690F	probably damaging	Het
Serpinb1b	A	T	13: 33,273,636 (GRCm39)	K110N	possibly damaging	Het
Sgsh	T	C	11: 119,243,599 (GRCm39)	N41S	probably damaging	Het
Sh2d1b1	A	G	1: 170,110,704 (GRCm39)	T67A	probably benign	Het
Skint5	A	T	4: 113,480,980 (GRCm39)	L958M	unknown	Het
Spg11	T	A	2: 121,923,426 (GRCm39)		probably null	Het
Spo11	T	A	2: 172,825,815 (GRCm39)	D84E	probably benign	Het
Spta1	G	A	1: 174,001,956 (GRCm39)	E29K	probably benign	Het
Srrm2	T	C	17: 24,040,286 (GRCm39)	V2310A	probably benign	Het
Tbc1d30	C	A	10: 121,107,962 (GRCm39)	R480L	probably benign	Het
Tbpl2	A	T	2: 23,985,079 (GRCm39)		probably null	Het
Tjp3	C	T	10: 81,118,828 (GRCm39)	V69I	possibly damaging	Het
Ube3b	T	C	5: 114,539,484 (GRCm39)	V425A	probably benign	Het
Vmn1r151	A	T	7: 22,198,492 (GRCm39)	S204R	probably damaging	Het
Vmn1r42	A	T	6: 89,822,059 (GRCm39)	I170N	probably damaging	Het
Vmn1r65	A	G	7: 6,011,254 (GRCm39)	S327P	probably benign	Het
Vmn2r104	T	C	17: 20,262,988 (GRCm39)	I158V	probably benign	Het
Wdr49	T	A	3: 75,338,454 (GRCm39)	M21L	probably benign	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
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
R9154:4930590J08Rik	UTSW	6	91,926,926 (GRCm39)	missense	probably benign	0.09
R9319:4930590J08Rik	UTSW	6	91,922,446 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CAGTGTGTTAGCTGCAGAGC -3'
(R):5'- AAGACTTTGACCTGGACTTTGCC -3'

Sequencing Primer
(F):5'- TGCAGAGCAAGGCAGGC -3'
(R):5'- GCCGTTCTTCTTTTGAACATGG -3'

Posted On

2020-09-15