Mutagenetix > Incidental Mutation

Incidental Mutation 'R4087:A530064D06Rik'

317438

Institutional Source

Beutler Lab

Gene Symbol

A530064D06Rik

Ensembl Gene

ENSMUSG00000043939

Gene Name

RIKEN cDNA A530064D06 gene

Synonyms

MMRRC Submission

040980-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4087 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48459064-48474425 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48473678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 80 (S80P)

Ref Sequence

ENSEMBL: ENSMUSP00000027764 (fasta)

Gene Model

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

AlphaFold

Q8BNV8

Predicted Effect

probably damaging
Transcript: ENSMUST00000027764
AA Change: S80P

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027764
Gene: ENSMUSG00000043939
AA Change: S80P

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

possibly damaging
Transcript: ENSMUST00000053612
AA Change: S80P

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000055935
Gene: ENSMUSG00000043939
AA Change: S80P

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.3%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss3	T	G	10: 106,889,313 (GRCm39)	Y169S	probably damaging	Het
Cep250	G	A	2: 155,834,552 (GRCm39)	R2159K	probably damaging	Het
Cldn34c4	A	T	X: 126,629,011 (GRCm39)	V153E	probably damaging	Het
Col4a4	T	A	1: 82,501,643 (GRCm39)	Y370F	unknown	Het
Col6a6	A	T	9: 105,661,155 (GRCm39)	I318N	possibly damaging	Het
Csmd1	T	A	8: 16,042,738 (GRCm39)	I2332F	probably damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Dym	T	A	18: 75,363,172 (GRCm39)	Y559N	probably damaging	Het
Eif3g	A	G	9: 20,809,248 (GRCm39)	V59A	possibly damaging	Het
Fam171a1	G	A	2: 3,227,333 (GRCm39)	R697Q	probably damaging	Het
Fermt3	T	A	19: 6,980,945 (GRCm39)		probably null	Het
Git2	A	G	5: 114,902,466 (GRCm39)	Y189H	probably damaging	Het
Gkn3	C	T	6: 87,360,507 (GRCm39)	A163T	probably damaging	Het
Gm7713	C	T	15: 59,866,258 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,544,925 (GRCm39)	Y313H	probably damaging	Het
Itprid2	C	T	2: 79,488,691 (GRCm39)	Q925*	probably null	Het
Kcnh8	T	C	17: 53,110,428 (GRCm39)	I213T	possibly damaging	Het
Lpgat1	A	T	1: 191,495,728 (GRCm39)	I306F	possibly damaging	Het
Mapk8	T	C	14: 33,112,205 (GRCm39)	T228A	probably benign	Het
Med12l	T	C	3: 59,205,342 (GRCm39)	V2101A	probably benign	Het
Mettl13	T	C	1: 162,375,771 (GRCm39)	K19E	possibly damaging	Het
Mta1	A	G	12: 113,075,802 (GRCm39)	Y22C	probably damaging	Het
Notch3	T	C	17: 32,377,087 (GRCm39)	T273A	possibly damaging	Het
Notch4	T	C	17: 34,803,409 (GRCm39)	W1443R	probably damaging	Het
Npy5r	T	A	8: 67,134,697 (GRCm39)	D32V	probably damaging	Het
Or8k36-ps1	C	A	2: 86,437,297 (GRCm39)	*206L	probably null	Het
Rbm47	A	G	5: 66,180,080 (GRCm39)	M409T	probably benign	Het
Rnf144a	C	T	12: 26,377,591 (GRCm39)	V51I	probably damaging	Het
Rxfp1	T	A	3: 79,552,256 (GRCm39)	T682S	probably damaging	Het
Sertad2	GCCCC	GCCCCC	11: 20,598,664 (GRCm39)		probably null	Het
Sos1	A	G	17: 80,756,781 (GRCm39)	V257A	probably benign	Het
Tdrd9	C	T	12: 111,979,920 (GRCm39)	Q256*	probably null	Het
Tmprss11d	A	T	5: 86,457,138 (GRCm39)	S174T	probably damaging	Het
Tor1b	T	A	2: 30,846,531 (GRCm39)	I238N	probably damaging	Het
Tppp2	T	C	14: 52,156,957 (GRCm39)		probably null	Het
Traf3ip3	A	G	1: 192,863,628 (GRCm39)	V414A	probably damaging	Het
Trim14	T	A	4: 46,523,709 (GRCm39)	T110S	probably benign	Het
Trim30d	T	C	7: 104,137,007 (GRCm39)	N66D	probably damaging	Het
Usp48	A	G	4: 137,350,651 (GRCm39)	N46S	possibly damaging	Het
Vmn2r115	A	C	17: 23,565,358 (GRCm39)	Q415P	probably benign	Het
Wbp2nl	A	G	15: 82,192,762 (GRCm39)	M149V	probably benign	Het
Zfp106	T	C	2: 120,357,380 (GRCm39)		probably null	Het
Zfp281	T	A	1: 136,553,859 (GRCm39)	I279N	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
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

Predicted Primers

PCR Primer
(F):5'- GAACATCTCTACTAGAGGAAGCTG -3'
(R):5'- CACAGAACCCGGAGTTACTTC -3'

Sequencing Primer
(F):5'- TCAACTCTGGAGCCTTGAGAC -3'
(R):5'- CCGGAGTTACTTCGAACACAGG -3'

Posted On

2015-05-15