Mutagenetix > Incidental Mutation

Incidental Mutation 'R0899:5031439G07Rik'

83813

Institutional Source

Beutler Lab

Gene Symbol

5031439G07Rik

Ensembl Gene

ENSMUSG00000036046

Gene Name

RIKEN cDNA 5031439G07 gene

Synonyms

MMRRC Submission

039059-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0899 (G1)

Quality Score

114

Status

Not validated

Chromosome

Chromosomal Location

84943936-84988551 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84949258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 442 (K442E)

Ref Sequence

ENSEMBL: ENSMUSP00000128699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047144] [ENSMUST00000165743]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000047144
AA Change: K399E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: K399E

Domain	Start	End	E-Value	Type
Pfam:DUF2045	25	264	7.4e-123	PFAM
low complexity region	347	362	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116791

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124308

Predicted Effect

probably damaging
Transcript: ENSMUST00000165743
AA Change: K442E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: K442E

Domain	Start	End	E-Value	Type
Pfam:DUF2045	71	305	7.3e-103	PFAM
low complexity region	390	405	N/A	INTRINSIC

Coding Region Coverage

1x: 99.7%
3x: 99.0%
10x: 97.2%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	G	A	16: 85,798,052	R340*	probably null	Het
Afg3l2	T	C	18: 67,422,977	N428S	possibly damaging	Het
Aqp12	G	A	1: 93,006,610	D70N	probably damaging	Het
Astn1	T	A	1: 158,511,109	C475*	probably null	Het
Atp2b1	G	A	10: 99,017,031		probably null	Het
Cbln2	T	C	18: 86,716,752	S217P	possibly damaging	Het
Ces2h	T	C	8: 105,014,550	L58P	probably damaging	Het
Cfap43	C	T	19: 47,747,994	G1353R	possibly damaging	Het
Crcp	A	G	5: 130,059,831	M91V	probably benign	Het
Cubn	A	G	2: 13,362,328	V1577A	possibly damaging	Het
Dthd1	A	G	5: 62,842,928	H531R	probably benign	Het
Fam120a	G	T	13: 48,885,743	A979E	possibly damaging	Het
Fat2	C	T	11: 55,256,225	G3982S	probably damaging	Het
Fbxo44	C	G	4: 148,156,269	R220S	probably damaging	Het
Fcnb	T	A	2: 28,076,779	K247N	probably damaging	Het
Gm4763	C	T	7: 24,723,312	R112H	probably benign	Het
Gtf2a1l	A	G	17: 88,668,724	N5S		Het
Htr3a	T	A	9: 48,901,452	D229V	possibly damaging	Het
Ipo11	A	C	13: 106,900,816	L173*	probably null	Het
Jam3	C	A	9: 27,098,957	G244W	probably damaging	Het
Mrpl52	C	T	14: 54,427,084	R12*	probably null	Het
Myo15	A	G	11: 60,477,185	Y257C	possibly damaging	Het
Myocd	G	A	11: 65,195,192	P215L	possibly damaging	Het
Ndst1	T	C	18: 60,707,882	T243A	probably benign	Het
Obox5	A	T	7: 15,758,875	T252S	probably benign	Het
Oit1	A	G	14: 8,364,863	I16T	probably damaging	Het
Olfr1026	A	G	2: 85,923,387	T40A	probably benign	Het
Olfr790	T	C	10: 129,501,432	F183L	probably damaging	Het
Olfr854	A	C	9: 19,566,547	V276G	probably damaging	Het
Osbpl1a	T	C	18: 12,757,690	S377G	possibly damaging	Het
Pfkl	A	G	10: 78,005,439		probably null	Het
Prdm16	A	T	4: 154,528,909	N20K	probably damaging	Het
Prkd1	A	G	12: 50,385,193	I589T	probably damaging	Het
Scnn1b	G	A	7: 121,917,715	G525S	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Ttn	A	G	2: 76,887,985		probably benign	Het
Wap	T	C	11: 6,636,725	T125A	probably benign	Het
Wdr86	C	T	5: 24,718,007	R229Q	probably benign	Het

Other mutations in 5031439G07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:5031439G07Rik	APN	15	84955819	missense	probably damaging	1.00
IGL02752:5031439G07Rik	APN	15	84955841	nonsense	probably null
R0269:5031439G07Rik	UTSW	15	84954000	missense	possibly damaging	0.92
R1302:5031439G07Rik	UTSW	15	84953276	missense	probably damaging	1.00
R1442:5031439G07Rik	UTSW	15	84955632	splice site	probably benign
R1468:5031439G07Rik	UTSW	15	84953144	missense	probably damaging	1.00
R1468:5031439G07Rik	UTSW	15	84953144	missense	probably damaging	1.00
R2299:5031439G07Rik	UTSW	15	84953285	missense	possibly damaging	0.59
R5721:5031439G07Rik	UTSW	15	84960597	missense	probably damaging	1.00
R5912:5031439G07Rik	UTSW	15	84955696	missense	possibly damaging	0.84
R5971:5031439G07Rik	UTSW	15	84987662	missense	possibly damaging	0.65
R6131:5031439G07Rik	UTSW	15	84960592	missense	probably damaging	1.00
R6981:5031439G07Rik	UTSW	15	84949597	nonsense	probably null
R7173:5031439G07Rik	UTSW	15	84949647	missense	possibly damaging	0.93
R7220:5031439G07Rik	UTSW	15	84953136	missense	probably damaging	1.00
R7554:5031439G07Rik	UTSW	15	84955485	missense	probably damaging	1.00
R7956:5031439G07Rik	UTSW	15	84950762	missense	possibly damaging	0.83
R8218:5031439G07Rik	UTSW	15	84955467	missense	probably damaging	0.99
R8500:5031439G07Rik	UTSW	15	84987635	missense	probably benign
R8501:5031439G07Rik	UTSW	15	84960523	missense	probably damaging	1.00
R8880:5031439G07Rik	UTSW	15	84955666	missense	possibly damaging	0.95
R9032:5031439G07Rik	UTSW	15	84960581	missense	probably benign	0.34
Z1177:5031439G07Rik	UTSW	15	84950642	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- GGACCCACTGTGACAAGAACTCTG -3'
(R):5'- ATCCATGCATCTCCGTTGCTGG -3'

Sequencing Primer
(F):5'- AGGACGAGGCACTTCAGTTTG -3'
(R):5'- CTGGCATGGGAGGGTAGG -3'

Posted On

2013-11-08