Mutagenetix > Incidental Mutation

Incidental Mutation 'R6774:A430033K04Rik'

532280

Institutional Source

Beutler Lab

Gene Symbol

A430033K04Rik

Ensembl Gene

ENSMUSG00000056014

Gene Name

RIKEN cDNA A430033K04 gene

Synonyms

MMRRC Submission

044890-MU

Accession Numbers

Essential gene?

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

Stock #

R6774 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138621121-138647179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138644712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 199 (Y199C)

Ref Sequence

ENSEMBL: ENSMUSP00000142904 (fasta)

Gene Model

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

AlphaFold

E9Q8G5

Predicted Effect

unknown
Transcript: ENSMUST00000069862
AA Change: Y199C

SMART Domains

Protein: ENSMUSP00000067316
Gene: ENSMUSG00000056014
AA Change: Y199C

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: Y199C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142904
Gene: ENSMUSG00000056014
AA Change: Y199C

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,908 (GRCm39)	I822N	probably damaging	Het
9930111J21Rik1	A	G	11: 48,838,143 (GRCm39)	S815P	possibly damaging	Het
Adam34l	T	A	8: 44,078,220 (GRCm39)	H668L	probably benign	Het
Afap1l1	A	T	18: 61,888,732 (GRCm39)	V113E	probably benign	Het
Ahnak2	C	T	12: 112,740,172 (GRCm39)	C494Y	possibly damaging	Het
Atr	A	T	9: 95,809,266 (GRCm39)	E1981D	probably benign	Het
Bmp7	A	G	2: 172,714,751 (GRCm39)	Y353H	probably damaging	Het
Capn11	C	T	17: 45,968,256 (GRCm39)		probably benign	Het
Ccdc103	T	C	11: 102,773,519 (GRCm39)	F47S	probably damaging	Het
Cmas	A	G	6: 142,710,147 (GRCm39)	Y130C	possibly damaging	Het
Cntn5	T	C	9: 10,144,222 (GRCm39)	Y149C	probably damaging	Het
Col12a1	A	C	9: 79,613,619 (GRCm39)	S75R	possibly damaging	Het
Crat	G	A	2: 30,303,195 (GRCm39)	H31Y	probably damaging	Het
Dnah7a	A	G	1: 53,737,810 (GRCm39)	V41A	probably benign	Het
F5	C	T	1: 164,014,447 (GRCm39)	R573C	probably damaging	Het
Gcc2	A	G	10: 58,117,261 (GRCm39)	N1170S	possibly damaging	Het
Gm29666	A	T	15: 84,798,260 (GRCm39)	C100*	probably null	Het
Gm3573	A	T	14: 42,009,472 (GRCm39)	Y158N	possibly damaging	Het
Gtf3c1	G	T	7: 125,240,793 (GRCm39)	A1968E	possibly damaging	Het
Heg1	C	A	16: 33,558,638 (GRCm39)	T815K	probably damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Kif17	A	G	4: 138,002,306 (GRCm39)	Y170C	probably damaging	Het
Kti12	G	A	4: 108,705,652 (GRCm39)	G189R	probably benign	Het
Lrp4	G	A	2: 91,341,849 (GRCm39)	A1821T	probably benign	Het
Mamdc4	T	C	2: 25,456,948 (GRCm39)	I610V	probably benign	Het
Mmp1b	T	C	9: 7,387,914 (GRCm39)	K27E	probably benign	Het
Mob4	A	G	1: 55,187,588 (GRCm39)		probably null	Het
Myc	G	A	15: 61,860,128 (GRCm39)		probably null	Het
Myo5c	A	T	9: 75,196,468 (GRCm39)	I1305F	probably benign	Het
Nprl3	A	G	11: 32,187,381 (GRCm39)	V292A	probably damaging	Het
Ntng2	T	C	2: 29,087,102 (GRCm39)	T373A	probably damaging	Het
Or1f19	T	A	16: 3,410,380 (GRCm39)	V40D	probably damaging	Het
Or4a67	C	T	2: 88,598,228 (GRCm39)	V144I	probably benign	Het
Or5p50	T	A	7: 107,422,395 (GRCm39)	T94S	probably benign	Het
Or7e171-ps1	A	T	9: 19,853,070 (GRCm39)	L222H	unknown	Het
Pard3	T	C	8: 128,137,228 (GRCm39)	L859P	probably damaging	Het
Ppcs	T	C	4: 119,276,285 (GRCm39)	D100G	probably damaging	Het
Prkdc	G	T	16: 15,543,325 (GRCm39)		probably null	Het
Pwwp2b	T	C	7: 138,835,903 (GRCm39)	V448A	probably benign	Het
Rapgef4	A	G	2: 72,056,119 (GRCm39)	K624R	probably benign	Het
Spata31e5	A	T	1: 28,815,974 (GRCm39)	I686N	probably benign	Het
Synj2	C	T	17: 6,088,290 (GRCm39)	S1447L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tnxb	C	A	17: 34,928,606 (GRCm39)	Y2673*	probably null	Het
Trim27	T	A	13: 21,376,624 (GRCm39)	H457Q	probably damaging	Het
Trim72	T	G	7: 127,609,558 (GRCm39)	F453L	probably damaging	Het
Ubr5	A	T	15: 38,015,379 (GRCm39)	M877K	probably damaging	Het
Usp10	T	C	8: 120,678,711 (GRCm39)	L564P	probably benign	Het
Usp54	A	G	14: 20,627,296 (GRCm39)	V454A	probably damaging	Het
Uspl1	T	A	5: 149,150,904 (GRCm39)	D701E	probably benign	Het
Vmn2r103	A	G	17: 19,993,773 (GRCm39)	H50R	probably benign	Het
Zfp35	G	A	18: 24,136,015 (GRCm39)	V120I	possibly damaging	Het
Zfp712	T	C	13: 67,189,568 (GRCm39)	T320A	probably benign	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
IGL03354:A430033K04Rik	APN	5	138,645,041 (GRCm39)	missense	possibly damaging	0.85
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGAATGAAGTCTGTTCTAGAGTG -3'
(R):5'- GCATAGCGTCATGGTTGCTAAG -3'

Sequencing Primer
(F):5'- GTTCTTTCAGGAGCTTGTTAATCC -3'
(R):5'- TCCCAAAGTTTGCTTTCTTAACTGAG -3'

Posted On

2018-08-29