Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03354:A430033K04Rik'

419835

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL03354

Quality Score

Status

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 138645041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 309 (A309T)

Ref Sequence

ENSEMBL: ENSMUSP00000067316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069862] [ENSMUST00000198958]

AlphaFold

E9Q8G5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069862
AA Change: A309T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: A309T

Domain	Start	End	E-Value	Type
KRAB	16	76	6.23e-34	SMART
ZnF_C2H2	261	280	1.01e2	SMART
ZnF_C2H2	455	477	1.47e-3	SMART
ZnF_C2H2	483	505	4.05e-1	SMART
ZnF_C2H2	511	533	5.5e-3	SMART
ZnF_C2H2	539	561	7.26e-3	SMART
ZnF_C2H2	567	589	5.14e-3	SMART
ZnF_C2H2	595	617	3.63e-3	SMART
ZnF_C2H2	623	645	1.92e-2	SMART
ZnF_C2H2	651	673	2.12e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198958
AA Change: A309T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: A309T

Domain	Start	End	E-Value	Type
KRAB	16	76	2.7e-36	SMART
ZnF_C2H2	261	280	4.2e-1	SMART
ZnF_C2H2	455	477	6.4e-6	SMART
ZnF_C2H2	483	505	1.8e-3	SMART
ZnF_C2H2	511	533	2.3e-5	SMART
ZnF_C2H2	539	561	3e-5	SMART
ZnF_C2H2	567	589	2.1e-5	SMART
ZnF_C2H2	595	617	1.5e-5	SMART
ZnF_C2H2	623	643	2.7e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	A	7: 119,993,711 (GRCm39)	Y1310*	probably null	Het
Adad1	G	T	3: 37,160,322 (GRCm39)	C552F	probably damaging	Het
Adam22	A	G	5: 8,208,890 (GRCm39)	S180P	possibly damaging	Het
Anxa10	A	T	8: 62,549,778 (GRCm39)	D22E	probably damaging	Het
Astn1	T	C	1: 158,516,174 (GRCm39)	S1255P	probably damaging	Het
Bhlhe41	T	C	6: 145,809,929 (GRCm39)	T92A	probably damaging	Het
Bicc1	G	A	10: 70,782,432 (GRCm39)	P603S	probably benign	Het
Camk2d	T	C	3: 126,590,615 (GRCm39)		probably null	Het
Ccdc136	T	A	6: 29,419,102 (GRCm39)	I808N	probably damaging	Het
Cd200r3	C	T	16: 44,773,960 (GRCm39)	A124V	possibly damaging	Het
Cfap70	T	C	14: 20,482,050 (GRCm39)	E310G	probably damaging	Het
Cyp2d12	A	T	15: 82,443,162 (GRCm39)	D357V	probably damaging	Het
Dnah7b	G	A	1: 46,124,849 (GRCm39)	V173I	probably damaging	Het
Dnajb4	T	A	3: 151,892,115 (GRCm39)	E239D	probably benign	Het
Dzip1	G	A	14: 119,149,981 (GRCm39)		probably benign	Het
Emp2	A	G	16: 10,103,429 (GRCm39)	I74T	probably damaging	Het
Ermn	T	G	2: 57,942,634 (GRCm39)	E32A	probably benign	Het
F10	C	A	8: 13,095,089 (GRCm39)	T82N	probably benign	Het
Fam227a	T	C	15: 79,520,951 (GRCm39)	D295G	possibly damaging	Het
Gm527	T	A	12: 64,969,154 (GRCm39)	F194I	probably damaging	Het
Gmcl1	G	A	6: 86,703,140 (GRCm39)	T98M	probably damaging	Het
Gucy2g	T	C	19: 55,221,512 (GRCm39)	R330G	possibly damaging	Het
H1f4	C	T	13: 23,806,060 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 92,987,957 (GRCm39)	H549R	probably damaging	Het
Klhl14	T	A	18: 21,784,785 (GRCm39)	D214V	probably damaging	Het
Lipo2	A	G	19: 33,708,270 (GRCm39)	F248S	probably benign	Het
Mctp2	C	T	7: 71,810,992 (GRCm39)	V661I	probably benign	Het
Myh15	A	T	16: 48,992,373 (GRCm39)	M1616L	probably benign	Het
Nlrp4b	A	T	7: 10,448,465 (GRCm39)	I223F	probably damaging	Het
Or1j18	A	T	2: 36,624,524 (GRCm39)	S64C	possibly damaging	Het
Or1j18	G	T	2: 36,624,525 (GRCm39)	S64I	possibly damaging	Het
Or2ad1	T	C	13: 21,326,654 (GRCm39)	Y191C	probably damaging	Het
Or2ag2	A	G	7: 106,485,307 (GRCm39)	V239A	probably benign	Het
Or2b28	T	C	13: 21,531,686 (GRCm39)	V196A	possibly damaging	Het
Or4c3d	A	C	2: 89,881,911 (GRCm39)	C252W	probably damaging	Het
Or5p80	T	A	7: 108,229,735 (GRCm39)	C179S	possibly damaging	Het
Or5w1b	T	C	2: 87,475,939 (GRCm39)	N176S	probably damaging	Het
Pcsk4	T	C	10: 80,161,893 (GRCm39)	D116G	probably damaging	Het
Pibf1	A	G	14: 99,388,174 (GRCm39)	D440G	probably benign	Het
Plekho2	T	C	9: 65,466,703 (GRCm39)	E129G	probably null	Het
Ptgds	T	C	2: 25,359,622 (GRCm39)	T22A	probably benign	Het
Rars1	A	G	11: 35,715,302 (GRCm39)	L248P	probably damaging	Het
Ruvbl1	C	A	6: 88,456,197 (GRCm39)	Y90*	probably null	Het
Schip1	A	G	3: 68,402,298 (GRCm39)	D125G	possibly damaging	Het
Skic3	T	C	13: 76,330,941 (GRCm39)	V1457A	possibly damaging	Het
Smarca2	T	C	19: 26,597,303 (GRCm39)	S62P	probably benign	Het
Sort1	T	C	3: 108,256,022 (GRCm39)	V656A	probably benign	Het
Tlr12	A	G	4: 128,509,730 (GRCm39)	L840P	probably damaging	Het
Trpm3	T	A	19: 22,834,082 (GRCm39)	I438N	probably damaging	Het
Wdr11	C	A	7: 129,227,026 (GRCm39)	F829L	probably benign	Het
Zdhhc11	A	T	13: 74,127,264 (GRCm39)	I214F	possibly damaging	Het

Other mutations in A430033K04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:A430033K04Rik	APN	5	138,645,854 (GRCm39)	missense	probably damaging	1.00
IGL00336:A430033K04Rik	APN	5	138,645,366 (GRCm39)	missense	probably damaging	0.99
IGL02615:A430033K04Rik	APN	5	138,644,402 (GRCm39)	nonsense	probably null
R0172:A430033K04Rik	UTSW	5	138,645,578 (GRCm39)	missense	probably damaging	0.99
R1769:A430033K04Rik	UTSW	5	138,644,519 (GRCm39)	missense	probably benign	0.04
R4515:A430033K04Rik	UTSW	5	138,646,006 (GRCm39)	missense	probably damaging	1.00
R4903:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R4964:A430033K04Rik	UTSW	5	138,645,119 (GRCm39)	nonsense	probably null
R5389:A430033K04Rik	UTSW	5	138,644,559 (GRCm39)	missense	probably benign	0.02
R5769:A430033K04Rik	UTSW	5	138,644,595 (GRCm39)	missense	possibly damaging	0.86
R6128:A430033K04Rik	UTSW	5	138,646,038 (GRCm39)	missense	probably damaging	1.00
R6399:A430033K04Rik	UTSW	5	138,645,821 (GRCm39)	missense	probably damaging	1.00
R6444:A430033K04Rik	UTSW	5	138,637,831 (GRCm39)	small deletion	probably benign
R6600:A430033K04Rik	UTSW	5	138,645,710 (GRCm39)	frame shift	probably null
R6774:A430033K04Rik	UTSW	5	138,644,712 (GRCm39)	missense	probably benign
R7098:A430033K04Rik	UTSW	5	138,644,784 (GRCm39)	missense	probably benign
R7217:A430033K04Rik	UTSW	5	138,645,188 (GRCm39)	missense	probably benign
R7269:A430033K04Rik	UTSW	5	138,645,014 (GRCm39)	missense	possibly damaging	0.86
R7429:A430033K04Rik	UTSW	5	138,634,445 (GRCm39)	missense	possibly damaging	0.92
R7442:A430033K04Rik	UTSW	5	138,645,509 (GRCm39)	missense	possibly damaging	0.55
R7718:A430033K04Rik	UTSW	5	138,646,122 (GRCm39)	missense	possibly damaging	0.73
R8007:A430033K04Rik	UTSW	5	138,644,901 (GRCm39)	missense	probably benign	0.33
R8170:A430033K04Rik	UTSW	5	138,645,315 (GRCm39)	missense	possibly damaging	0.72
R8348:A430033K04Rik	UTSW	5	138,634,514 (GRCm39)	missense	probably damaging	1.00
R8496:A430033K04Rik	UTSW	5	138,645,120 (GRCm39)	missense	probably benign	0.00
R8520:A430033K04Rik	UTSW	5	138,644,968 (GRCm39)	missense	possibly damaging	0.72
R8778:A430033K04Rik	UTSW	5	138,645,149 (GRCm39)	missense	possibly damaging	0.53
R8858:A430033K04Rik	UTSW	5	138,638,338 (GRCm39)	missense	probably benign	0.01
R9147:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9148:A430033K04Rik	UTSW	5	138,644,547 (GRCm39)	missense	possibly damaging	0.86
R9418:A430033K04Rik	UTSW	5	138,645,317 (GRCm39)	missense	probably damaging	1.00
R9645:A430033K04Rik	UTSW	5	138,644,793 (GRCm39)	missense	probably benign	0.33
R9661:A430033K04Rik	UTSW	5	138,645,451 (GRCm39)	missense	possibly damaging	0.53

Posted On

2016-08-02