Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:A530064D06Rik'

383757

Institutional Source

Beutler Lab

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48459064-48474425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48470582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 133 (I133N)

Ref Sequence

ENSEMBL: ENSMUSP00000055935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027764] [ENSMUST00000053612]

AlphaFold

Q8BNV8

Predicted Effect

probably benign
Transcript: ENSMUST00000027764

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	144	158	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053612
AA Change: I133N

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: I133N

Domain	Start	End	E-Value	Type
low complexity region	8	17	N/A	INTRINSIC
IG	26	122	1.56e-5	SMART
low complexity region	147	166	N/A	INTRINSIC
transmembrane domain	191	213	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,960,142 (GRCm39)	S642P	probably damaging	Het
Abcg5	G	T	17: 84,967,569 (GRCm39)	Y410*	probably null	Het
Anapc7	T	A	5: 122,560,669 (GRCm39)	M10K	probably damaging	Het
Ank2	G	A	3: 126,825,745 (GRCm39)	T418M	probably benign	Het
Arhgap17	T	C	7: 122,907,583 (GRCm39)	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,694,051 (GRCm39)	T381A	probably damaging	Het
Cep89	T	G	7: 35,102,577 (GRCm39)	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,204,619 (GRCm39)	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,286,145 (GRCm39)	I768T	probably benign	Het
Defa41	C	T	8: 21,691,774 (GRCm39)	S52F	probably damaging	Het
Dgke	A	G	11: 88,941,628 (GRCm39)	V249A	possibly damaging	Het
Dnah9	T	C	11: 65,975,437 (GRCm39)		probably null	Het
Dnajc3	C	A	14: 119,215,585 (GRCm39)	H502N	probably benign	Het
Dsp	A	G	13: 38,381,846 (GRCm39)	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,518,496 (GRCm39)	D208G	probably benign	Het
Evc	C	T	5: 37,479,393 (GRCm39)		probably null	Het
Fam98a	A	G	17: 75,845,977 (GRCm39)	S285P	probably damaging	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gsdmc	A	G	15: 63,676,229 (GRCm39)		probably null	Het
Gtpbp4	C	A	13: 9,035,253 (GRCm39)	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,982,630 (GRCm39)	Y77H	probably benign	Het
Irx2	T	C	13: 72,780,729 (GRCm39)	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,643,079 (GRCm39)	W396L	probably damaging	Het
Kif27	T	C	13: 58,476,808 (GRCm39)	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,150,226 (GRCm39)		probably null	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Ldb3	T	G	14: 34,288,815 (GRCm39)	S252R	probably damaging	Het
Marchf8	G	A	6: 116,363,232 (GRCm39)		probably benign	Het
Mdn1	C	A	4: 32,756,512 (GRCm39)	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,014,561 (GRCm39)	H236L	probably benign	Het
Mlph	A	G	1: 90,867,112 (GRCm39)	D378G	probably damaging	Het
Msi1	T	A	5: 115,588,944 (GRCm39)	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,070,567 (GRCm39)		probably benign	Het
Mtpap	T	C	18: 4,375,638 (GRCm39)	V6A	probably benign	Het
Nedd1	C	A	10: 92,530,893 (GRCm39)	D399Y	probably damaging	Het
Ninl	A	G	2: 150,781,829 (GRCm39)	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Nle1	A	G	11: 82,795,763 (GRCm39)	V228A	probably benign	Het
Npy4r	T	A	14: 33,868,973 (GRCm39)	D105V	probably damaging	Het
Or1f12	A	G	13: 21,722,152 (GRCm39)	Y8H	probably damaging	Het
Palld	C	T	8: 62,156,244 (GRCm39)	V464M	probably damaging	Het
Pclo	T	C	5: 14,719,235 (GRCm39)	V1124A	unknown	Het
Pex1	T	A	5: 3,659,924 (GRCm39)	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,367,421 (GRCm39)	S773N	probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Prmt9	A	G	8: 78,282,358 (GRCm39)	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,220,706 (GRCm39)		probably null	Het
Rbm19	T	A	5: 120,279,631 (GRCm39)	M766K	probably damaging	Het
Rdh11	A	G	12: 79,235,380 (GRCm39)	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,367 (GRCm39)	V335A	probably damaging	Het
Sema6a	T	C	18: 47,431,318 (GRCm39)	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,318,126 (GRCm39)	T593I	probably benign	Het
Slco1a1	A	G	6: 141,868,825 (GRCm39)	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826 (GRCm39)	S215P	probably damaging	Het
Smyd2	A	T	1: 189,614,385 (GRCm39)	V381E	probably damaging	Het
Smyd4	C	T	11: 75,273,120 (GRCm39)	S60L	probably benign	Het
Spata18	T	A	5: 73,836,336 (GRCm39)	V419E	probably damaging	Het
Terb1	A	G	8: 105,208,950 (GRCm39)	L376S	probably damaging	Het
Timd2	T	C	11: 46,573,617 (GRCm39)	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,197,804 (GRCm39)	T461K	probably benign	Het
Tpp2	G	A	1: 44,031,428 (GRCm39)	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,584,289 (GRCm39)	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,724,746 (GRCm39)	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,595,403 (GRCm39)	Q652L	probably damaging	Het
Vwf	C	T	6: 125,644,446 (GRCm39)	R2434*	probably null	Het
Wdhd1	A	G	14: 47,506,146 (GRCm39)	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,250,415 (GRCm39)	C439S	probably damaging	Het
Zfp709	A	G	8: 72,643,632 (GRCm39)	T354A	probably benign	Het
Zswim2	A	T	2: 83,755,454 (GRCm39)	I149N	probably damaging	Het

Other mutations in A530064D06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01377:A530064D06Rik	APN	17	48,460,108 (GRCm39)	missense	probably damaging	0.99
IGL01761:A530064D06Rik	APN	17	48,460,127 (GRCm39)	missense	possibly damaging	0.91
IGL02001:A530064D06Rik	APN	17	48,473,842 (GRCm39)	missense	possibly damaging	0.74
IGL02995:A530064D06Rik	APN	17	48,470,456 (GRCm39)	missense	probably benign	0.23
IGL03109:A530064D06Rik	APN	17	48,473,628 (GRCm39)	missense	probably benign	0.13
FR4340:A530064D06Rik	UTSW	17	48,470,549 (GRCm39)	small deletion	probably benign
FR4589:A530064D06Rik	UTSW	17	48,470,549 (GRCm39)	small deletion	probably benign
IGL02984:A530064D06Rik	UTSW	17	48,470,448 (GRCm39)	missense	probably benign	0.06
R0206:A530064D06Rik	UTSW	17	48,470,486 (GRCm39)	missense	probably benign	0.00
R0206:A530064D06Rik	UTSW	17	48,470,486 (GRCm39)	missense	probably benign	0.00
R0660:A530064D06Rik	UTSW	17	48,473,759 (GRCm39)	missense	probably benign	0.18
R0664:A530064D06Rik	UTSW	17	48,473,759 (GRCm39)	missense	probably benign	0.18
R0671:A530064D06Rik	UTSW	17	48,473,824 (GRCm39)	missense	probably benign	0.05
R1587:A530064D06Rik	UTSW	17	48,473,585 (GRCm39)	missense	probably benign	0.20
R4087:A530064D06Rik	UTSW	17	48,473,678 (GRCm39)	missense	probably damaging	0.96
R4089:A530064D06Rik	UTSW	17	48,473,678 (GRCm39)	missense	probably damaging	0.96
R5060:A530064D06Rik	UTSW	17	48,474,107 (GRCm39)	missense	probably damaging	1.00
R5083:A530064D06Rik	UTSW	17	48,473,558 (GRCm39)	missense	possibly damaging	0.86
R5219:A530064D06Rik	UTSW	17	48,470,518 (GRCm39)	missense	possibly damaging	0.70
R6175:A530064D06Rik	UTSW	17	48,460,016 (GRCm39)	missense	possibly damaging	0.91
R6189:A530064D06Rik	UTSW	17	48,474,222 (GRCm39)	start gained	probably benign
R6420:A530064D06Rik	UTSW	17	48,473,566 (GRCm39)	missense	probably damaging	1.00
R6439:A530064D06Rik	UTSW	17	48,473,653 (GRCm39)	missense	probably damaging	1.00
R7417:A530064D06Rik	UTSW	17	48,460,057 (GRCm39)	missense	probably damaging	1.00
Z1177:A530064D06Rik	UTSW	17	48,473,674 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTATAAACCAGGAGCCATGAAAAC -3'
(R):5'- AAACTTGCTTCTTGGATGGCTG -3'

Sequencing Primer
(F):5'- TGAAAACATACCTGTCAGCATCTGTC -3'
(R):5'- GGATGGCTGCTTTCATTTTCCTCAG -3'

Posted On

2016-04-27