Mutagenetix > Incidental Mutation

Incidental Mutation 'R6131:5031439G07Rik'

487152

Institutional Source

Beutler Lab

Gene Symbol

5031439G07Rik

Ensembl Gene

ENSMUSG00000036046

Gene Name

RIKEN cDNA 5031439G07 gene

Synonyms

MMRRC Submission

044278-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84828137-84872503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84844793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 75 (W75R)

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: W32R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: W32R

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: ENSMUST00000124308

Predicted Effect

probably damaging
Transcript: ENSMUST00000165743
AA Change: W75R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: W75R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170863

Meta Mutation Damage Score

0.9660

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	A	G	3: 59,776,324 (GRCm39)	K165R	possibly damaging	Het
Abca15	T	C	7: 119,939,428 (GRCm39)	V274A	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ap1m2	T	C	9: 21,207,797 (GRCm39)	Y396C	probably damaging	Het
Apob	T	C	12: 8,065,874 (GRCm39)	S405P	probably benign	Het
Arhgap26	G	T	18: 39,419,638 (GRCm39)	G533*	probably null	Het
Atxn2l	T	C	7: 126,102,337 (GRCm39)		probably benign	Het
Ccdc88c	A	T	12: 100,907,387 (GRCm39)	L995H	probably damaging	Het
Ccn3	A	G	15: 54,612,756 (GRCm39)	D255G	probably benign	Het
Cep192	A	G	18: 67,971,068 (GRCm39)	H1023R	possibly damaging	Het
Cog5	T	A	12: 31,936,220 (GRCm39)	M589K	possibly damaging	Het
Col25a1	C	A	3: 130,329,114 (GRCm39)	P337Q	probably damaging	Het
Cyfip1	T	G	7: 55,523,228 (GRCm39)	V51G	possibly damaging	Het
Dnah7b	A	T	1: 46,292,626 (GRCm39)	I3004F	probably damaging	Het
Dsg3	A	T	18: 20,671,569 (GRCm39)	D758V	probably damaging	Het
Dsg3	A	G	18: 20,653,534 (GRCm39)		probably null	Het
Eml5	A	T	12: 98,827,510 (GRCm39)	H573Q	probably damaging	Het
Erp27	T	C	6: 136,885,201 (GRCm39)	D199G	probably damaging	Het
Flnb	A	G	14: 7,894,635 (GRCm38)	Y811C	possibly damaging	Het
G6pd2	A	T	5: 61,966,593 (GRCm39)	S123C	probably benign	Het
Gm1818	T	A	12: 48,602,319 (GRCm39)		noncoding transcript	Het
Gm29340	C	T	2: 116,798,519 (GRCm39)		noncoding transcript	Het
H2bc7	C	A	13: 23,758,310 (GRCm39)		probably benign	Het
Hcn2	G	T	10: 79,569,742 (GRCm39)	G581W	probably damaging	Het
Kidins220	T	C	12: 25,042,313 (GRCm39)		probably null	Het
Lonp1	T	C	17: 56,921,457 (GRCm39)	E926G	probably benign	Het
Lrp1	T	C	10: 127,396,026 (GRCm39)	I2415V	probably benign	Het
Mmel1	C	T	4: 154,979,475 (GRCm39)	H728Y	probably damaging	Het
Mmp10	A	G	9: 7,503,633 (GRCm39)		probably null	Het
Myo16	T	A	8: 10,619,877 (GRCm39)	I1476N	probably benign	Het
Nectin3	G	T	16: 46,215,515 (GRCm39)	H76N	probably damaging	Het
Nphs2	G	A	1: 156,153,521 (GRCm39)	R204Q	probably damaging	Het
Or5ac15	T	C	16: 58,940,256 (GRCm39)	Y59C	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8b53	T	A	9: 38,667,362 (GRCm39)	I126N	probably damaging	Het
Otx1	A	T	11: 21,949,406 (GRCm39)	L24H	probably damaging	Het
Pate10	T	A	9: 35,652,840 (GRCm39)	C27*	probably null	Het
Psme2b	T	C	11: 48,836,752 (GRCm39)	D65G	probably damaging	Het
Rlf	T	C	4: 121,012,172 (GRCm39)	K214E	probably damaging	Het
Rnasel	A	T	1: 153,630,206 (GRCm39)	T241S	probably damaging	Het
Samd9l	C	G	6: 3,377,252 (GRCm39)	G3A	probably benign	Het
Smg7	A	G	1: 152,720,962 (GRCm39)		probably null	Het
Spag16	A	G	1: 70,764,242 (GRCm39)		probably null	Het
Spata31d1c	T	A	13: 65,183,485 (GRCm39)	D342E	probably benign	Het
Stab2	A	G	10: 86,719,642 (GRCm39)		probably null	Het
Taar7b	A	T	10: 23,876,615 (GRCm39)	Y260F	probably benign	Het
Vcpip1	T	C	1: 9,817,517 (GRCm39)	I289V	probably damaging	Het
Vmn2r130	C	T	17: 23,282,629 (GRCm39)	A103V	probably benign	Het
Vmn2r39	A	G	7: 9,017,963 (GRCm39)	V791A	probably damaging	Het
Vmn2r66	T	A	7: 84,644,224 (GRCm39)	I729F	probably damaging	Het
Zfp536	T	A	7: 37,269,137 (GRCm39)	D93V	probably damaging	Het

Other mutations in 5031439G07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00910:5031439G07Rik	APN	15	84,840,020 (GRCm39)	missense	probably damaging	1.00
IGL02752:5031439G07Rik	APN	15	84,840,042 (GRCm39)	nonsense	probably null
R0269:5031439G07Rik	UTSW	15	84,838,201 (GRCm39)	missense	possibly damaging	0.92
R0899:5031439G07Rik	UTSW	15	84,833,459 (GRCm39)	missense	probably damaging	1.00
R1302:5031439G07Rik	UTSW	15	84,837,477 (GRCm39)	missense	probably damaging	1.00
R1442:5031439G07Rik	UTSW	15	84,839,833 (GRCm39)	splice site	probably benign
R1468:5031439G07Rik	UTSW	15	84,837,345 (GRCm39)	missense	probably damaging	1.00
R1468:5031439G07Rik	UTSW	15	84,837,345 (GRCm39)	missense	probably damaging	1.00
R2299:5031439G07Rik	UTSW	15	84,837,486 (GRCm39)	missense	possibly damaging	0.59
R5721:5031439G07Rik	UTSW	15	84,844,798 (GRCm39)	missense	probably damaging	1.00
R5912:5031439G07Rik	UTSW	15	84,839,897 (GRCm39)	missense	possibly damaging	0.84
R5971:5031439G07Rik	UTSW	15	84,871,863 (GRCm39)	missense	possibly damaging	0.65
R6981:5031439G07Rik	UTSW	15	84,833,798 (GRCm39)	nonsense	probably null
R7173:5031439G07Rik	UTSW	15	84,833,848 (GRCm39)	missense	possibly damaging	0.93
R7220:5031439G07Rik	UTSW	15	84,837,337 (GRCm39)	missense	probably damaging	1.00
R7554:5031439G07Rik	UTSW	15	84,839,686 (GRCm39)	missense	probably damaging	1.00
R7956:5031439G07Rik	UTSW	15	84,834,963 (GRCm39)	missense	possibly damaging	0.83
R8218:5031439G07Rik	UTSW	15	84,839,668 (GRCm39)	missense	probably damaging	0.99
R8500:5031439G07Rik	UTSW	15	84,871,836 (GRCm39)	missense	probably benign
R8501:5031439G07Rik	UTSW	15	84,844,724 (GRCm39)	missense	probably damaging	1.00
R8880:5031439G07Rik	UTSW	15	84,839,867 (GRCm39)	missense	possibly damaging	0.95
R9032:5031439G07Rik	UTSW	15	84,844,782 (GRCm39)	missense	probably benign	0.34
Z1177:5031439G07Rik	UTSW	15	84,834,843 (GRCm39)	missense	possibly damaging	0.52

Predicted Primers

PCR Primer
(F):5'- TGAATGCTGCAGGAGGTTCAG -3'
(R):5'- AGCCACTGATTCATCCGCAG -3'

Sequencing Primer
(F):5'- CTGCAGGAGGTTCAGAGCAC -3'
(R):5'- ACTGGGTGGAGTCCTACTC -3'

Posted On

2017-10-10