Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03109:A530064D06Rik'

419106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03109

Quality Score

Status

Chromosome

Chromosomal Location

48459064-48474425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48473628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 96 (S96R)

Ref Sequence

ENSEMBL: ENSMUSP00000055935 (fasta)

Gene Model

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

AlphaFold

Q8BNV8

Predicted Effect

probably benign
Transcript: ENSMUST00000027764
AA Change: S96R

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939
AA Change: S96R

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: S96R

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: S96R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,071,173 (GRCm39)	H1506L	probably damaging	Het
Adgrg1	T	A	8: 95,734,304 (GRCm39)		probably benign	Het
Ahi1	A	G	10: 20,846,841 (GRCm39)	T424A	probably benign	Het
Birc6	T	A	17: 74,886,329 (GRCm39)	S552R	possibly damaging	Het
Bptf	T	C	11: 106,952,527 (GRCm39)	T2172A	possibly damaging	Het
Commd9	T	C	2: 101,727,515 (GRCm39)	V103A	probably benign	Het
Ctnnal1	T	A	4: 56,839,045 (GRCm39)	D216V	probably damaging	Het
Dcbld2	A	G	16: 58,276,765 (GRCm39)	T519A	probably benign	Het
Dennd6b	T	C	15: 89,069,188 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,841,950 (GRCm39)	T1369A	probably benign	Het
Ect2	T	C	3: 27,199,121 (GRCm39)	T222A	possibly damaging	Het
Eef2k	G	A	7: 120,490,949 (GRCm39)	G523E	probably damaging	Het
Ephb2	T	G	4: 136,498,855 (GRCm39)	T75P	probably damaging	Het
Exo1	A	T	1: 175,727,126 (GRCm39)	N479I	probably damaging	Het
Fign	A	G	2: 63,811,006 (GRCm39)	L88P	possibly damaging	Het
Golgb1	T	A	16: 36,735,973 (GRCm39)	V1740E	possibly damaging	Het
Icos	A	G	1: 61,036,856 (GRCm39)		probably benign	Het
Il6ra	C	A	3: 89,784,165 (GRCm39)	G369*	probably null	Het
Itpr1	A	G	6: 108,394,942 (GRCm39)	D83G	probably damaging	Het
Kdm2a	A	G	19: 4,379,135 (GRCm39)	I560T	probably benign	Het
Lrp1	C	T	10: 127,402,514 (GRCm39)	R2219H	probably benign	Het
Mical3	A	T	6: 120,986,085 (GRCm39)	C119S	probably damaging	Het
Mipol1	G	A	12: 57,411,010 (GRCm39)	R267H	probably benign	Het
Myrip	A	T	9: 120,282,790 (GRCm39)		probably null	Het
Nelfb	G	A	2: 25,091,073 (GRCm39)	L542F	possibly damaging	Het
Nlrp4b	T	C	7: 10,448,873 (GRCm39)	C359R	probably damaging	Het
Noxred1	T	A	12: 87,280,212 (GRCm39)	H40L	probably damaging	Het
Nphp1	A	T	2: 127,610,089 (GRCm39)		probably benign	Het
Or14j8	C	T	17: 38,263,378 (GRCm39)	C179Y	probably damaging	Het
Pank3	T	A	11: 35,668,501 (GRCm39)	F163L	probably benign	Het
Pde10a	T	C	17: 9,148,046 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,345 (GRCm39)	R109Q	possibly damaging	Het
Rfc3	A	G	5: 151,566,559 (GRCm39)	S297P	probably benign	Het
Serinc1	A	T	10: 57,399,165 (GRCm39)	M246K	probably benign	Het
Slc5a8	C	T	10: 88,742,278 (GRCm39)		probably benign	Het
Tecrl	A	G	5: 83,457,156 (GRCm39)		probably benign	Het
Tex14	A	T	11: 87,434,191 (GRCm39)	E119V	probably damaging	Het
Tmem94	A	G	11: 115,683,224 (GRCm39)	K669R	probably damaging	Het
Tnfrsf4	C	A	4: 156,099,868 (GRCm39)	H130Q	probably damaging	Het
Trav18	G	A	14: 54,069,008 (GRCm39)	A18T	probably benign	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
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
R4963:A530064D06Rik	UTSW	17	48,470,582 (GRCm39)	missense	probably benign	0.34
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

Posted On

2016-08-02