Mutagenetix > Incidental Mutation

Incidental Mutation 'R8218:5031439G07Rik'

636511

Institutional Source

Beutler Lab

Gene Symbol

5031439G07Rik

Ensembl Gene

ENSMUSG00000036046

Gene Name

RIKEN cDNA 5031439G07 gene

Synonyms

MMRRC Submission

067637-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R8218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84828137-84872503 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84839668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 191 (H191Y)

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: H148Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037011
Gene: ENSMUSG00000036046
AA Change: H148Y

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000165743
AA Change: H191Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128699
Gene: ENSMUSG00000036046
AA Change: H191Y

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

Meta Mutation Damage Score

0.2057

Coding Region Coverage

1x: 99.9%
3x: 99.9%
10x: 99.5%
20x: 98.6%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,536,769 (GRCm39)	L155*	probably null	Het
Ackr4	T	C	9: 103,976,410 (GRCm39)	N179S	probably benign	Het
Acp5	T	C	9: 22,040,902 (GRCm39)	Y107C	probably damaging	Het
Aff4	A	T	11: 53,289,084 (GRCm39)	H411L	probably damaging	Het
Atp5pb	A	G	3: 105,866,502 (GRCm39)	M1T	probably null	Het
Atp8b5	G	A	4: 43,372,728 (GRCm39)		probably null	Het
C1qtnf2	A	G	11: 43,381,775 (GRCm39)	T166A	possibly damaging	Het
Dctn2	A	G	10: 127,112,398 (GRCm39)	D170G	probably damaging	Het
Dennd3	T	A	15: 73,384,622 (GRCm39)	S10T	probably benign	Het
Ehbp1	T	C	11: 22,046,096 (GRCm39)	Y551C	possibly damaging	Het
Eif4g2	A	T	7: 110,673,639 (GRCm39)	D743E	possibly damaging	Het
Esr1	G	A	10: 4,696,808 (GRCm39)		probably null	Het
Exo1	A	T	1: 175,728,480 (GRCm39)	I515L	probably benign	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Flvcr2	GTAGTGTATA	GTA	12: 85,849,922 (GRCm39)		probably null	Het
Garin1a	T	C	6: 29,286,072 (GRCm39)	I177T	probably damaging	Het
Gcn1	G	A	5: 115,719,588 (GRCm39)	S361N	probably benign	Het
Gm6337	C	T	14: 6,050,613 (GRCm38)		probably null	Het
Grk4	T	A	5: 34,826,540 (GRCm39)	S47T	probably benign	Het
Gstp2	C	A	19: 4,091,668 (GRCm39)	M20I	probably benign	Het
Harbi1	T	C	2: 91,543,237 (GRCm39)	F233L	probably benign	Het
Iqch	C	T	9: 63,389,915 (GRCm39)	V755I	possibly damaging	Het
Iws1	T	C	18: 32,226,688 (GRCm39)	F756L	probably benign	Het
Kcnh6	T	G	11: 105,908,200 (GRCm39)	V272G	possibly damaging	Het
Kcnj10	C	T	1: 172,196,539 (GRCm39)	R18C	probably damaging	Het
Kmt2c	A	C	5: 25,488,104 (GRCm39)	S4670A	probably damaging	Het
Krt80	T	G	15: 101,267,884 (GRCm39)	M18L	probably benign	Het
Lbx1	A	G	19: 45,223,359 (GRCm39)	V103A	probably benign	Het
Marchf8	A	T	6: 116,315,059 (GRCm39)		probably benign	Het
Muc16	T	A	9: 18,548,315 (GRCm39)	T5993S	possibly damaging	Het
Or10ag57	C	T	2: 87,218,922 (GRCm39)	T291I	probably damaging	Het
Or1j17	A	G	2: 36,578,685 (GRCm39)	T224A	probably benign	Het
Or1o4	A	G	17: 37,590,711 (GRCm39)	V200A	probably benign	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Pbxip1	A	G	3: 89,352,902 (GRCm39)	I183V	probably benign	Het
Pcdh20	T	A	14: 88,706,047 (GRCm39)	I418F	probably damaging	Het
Pclo	T	C	5: 14,725,677 (GRCm39)	F1512L	unknown	Het
Phf2	G	T	13: 48,958,104 (GRCm39)	T970K	unknown	Het
Pidd1	A	G	7: 141,019,566 (GRCm39)	V698A	probably damaging	Het
Pik3ca	T	A	3: 32,491,996 (GRCm39)	V198D	possibly damaging	Het
Pip5k1c	T	A	10: 81,142,250 (GRCm39)	D153E	probably damaging	Het
Ppfia2	A	G	10: 106,699,236 (GRCm39)	D795G	probably benign	Het
Pramel12	A	T	4: 143,145,706 (GRCm39)	I392F	probably benign	Het
Prkar2a	C	A	9: 108,596,448 (GRCm39)	A131D	possibly damaging	Het
Pter	A	G	2: 12,985,366 (GRCm39)	D232G	probably damaging	Het
Qser1	C	T	2: 104,593,268 (GRCm39)	R1583Q	probably damaging	Het
Rasal2	A	C	1: 156,984,951 (GRCm39)	V932G	probably damaging	Het
Rasgrf2	G	A	13: 92,130,796 (GRCm39)	A154V		Het
Rbm4	A	G	19: 4,837,444 (GRCm39)	Y347H	probably damaging	Het
Rfxank	C	A	8: 70,584,085 (GRCm39)		probably null	Het
Robo1	C	G	16: 72,786,678 (GRCm39)	R897G	possibly damaging	Het
Sash1	G	A	10: 8,627,000 (GRCm39)	T364I	probably damaging	Het
Skint6	T	A	4: 112,696,471 (GRCm39)		probably null	Het
Slc22a4	T	A	11: 53,877,407 (GRCm39)	M495L	probably benign	Het
Slc39a8	G	A	3: 135,563,325 (GRCm39)	V212I	probably benign	Het
Slc40a1	A	C	1: 45,950,129 (GRCm39)	V441G	probably benign	Het
Slc7a11	A	T	3: 50,378,501 (GRCm39)	Y246N	probably damaging	Het
Spata9	T	C	13: 76,125,892 (GRCm39)	V125A	probably benign	Het
Svopl	T	A	6: 37,991,741 (GRCm39)	M380L	probably benign	Het
Sycp2l	T	C	13: 41,271,544 (GRCm39)	Y23H	probably damaging	Het
Syt11	A	T	3: 88,669,427 (GRCm39)	V155E	probably benign	Het
Syt5	T	C	7: 4,545,822 (GRCm39)	Y147C	probably damaging	Het
Thg1l	T	C	11: 45,846,277 (GRCm39)	T6A	probably benign	Het
Tlr2	A	G	3: 83,745,546 (GRCm39)	L179P	probably damaging	Het
Tsn	A	T	1: 118,232,984 (GRCm39)	Y107N	probably damaging	Het
Tspan32	A	T	7: 142,564,832 (GRCm39)	Y114F	probably benign	Het
Tube1	A	C	10: 39,023,375 (GRCm39)	S341R	possibly damaging	Het
Ubn2	T	A	6: 38,466,214 (GRCm39)	V516D	probably benign	Het
Vmn1r21	G	T	6: 57,820,910 (GRCm39)	T178K	noncoding transcript	Het
Vmn2r108	A	G	17: 20,683,465 (GRCm39)	Y580H	probably damaging	Het
Wdr75	T	A	1: 45,857,342 (GRCm39)	F546L	probably damaging	Het
Yy1	A	G	12: 108,759,619 (GRCm39)	D94G	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	probably benign	Het
Zfy2	T	C	Y: 2,133,421 (GRCm39)	T9A	unknown	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
R6131:5031439G07Rik	UTSW	15	84,844,793 (GRCm39)	missense	probably damaging	1.00
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
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'- TTGCCCATGTCTCCTAGGAG -3'
(R):5'- ACATGGTGACCTGTGCTGTG -3'

Sequencing Primer
(F):5'- CTCCTAGGAGGCTTTGCAG -3'
(R):5'- ATGGGGGTGACATCCACATC -3'

Posted On

2020-07-13