Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02037:A730049H05Rik'

184565

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A730049H05Rik

Ensembl Gene

ENSMUSG00000048636

Gene Name

RIKEN cDNA A730049H05 gene

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02037

Quality Score

Status

Chromosome

Chromosomal Location

92793424-92820449 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 92804997 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057977] [ENSMUST00000113438] [ENSMUST00000167391]

AlphaFold

Q8C940

Predicted Effect

unknown
Transcript: ENSMUST00000057977
AA Change: D52E

SMART Domains

Protein: ENSMUSP00000051623
Gene: ENSMUSG00000048636
AA Change: D52E

Domain	Start	End	E-Value	Type
low complexity region	72	87	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113438

SMART Domains

Protein: ENSMUSP00000109065
Gene: ENSMUSG00000030022

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Pep_M12B_propep	49	207	1.8e-37	PFAM
low complexity region	234	247	N/A	INTRINSIC
Pfam:Reprolysin_5	291	476	7.6e-17	PFAM
Pfam:Reprolysin_4	291	495	2e-11	PFAM
Pfam:Reprolysin	293	499	7.4e-29	PFAM
Pfam:Reprolysin_2	310	489	1e-13	PFAM
Pfam:Reprolysin_3	314	445	1.7e-14	PFAM
TSP1	591	643	2.15e-9	SMART
Pfam:ADAM_spacer1	753	871	7.3e-35	PFAM
TSP1	881	936	1.14e0	SMART
Blast:TSP1	938	993	2e-28	BLAST
TSP1	1000	1054	3.78e-5	SMART
TSP1	1055	1109	5.64e-4	SMART
TSP1	1110	1166	1.25e-5	SMART
TSP1	1186	1240	1.45e-6	SMART
TSP1	1242	1296	4.41e-6	SMART
TSP1	1328	1380	7.06e-5	SMART
TSP1	1381	1436	4.24e-8	SMART
TSP1	1440	1495	8.23e-6	SMART
TSP1	1496	1551	1.23e-4	SMART
TSP1	1552	1609	2e-4	SMART
TSP1	1611	1672	1.25e-5	SMART
TSP1	1676	1730	3.47e-4	SMART
Pfam:GON	1732	1930	1.6e-85	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133858

Predicted Effect

probably benign
Transcript: ENSMUST00000167391

SMART Domains

Protein: ENSMUSP00000126498
Gene: ENSMUSG00000030022

Domain	Start	End	E-Value	Type
TSP1	10	62	2.15e-9	SMART
Pfam:ADAM_spacer1	172	290	6.1e-35	PFAM
TSP1	300	355	1.14e0	SMART
Blast:TSP1	357	412	3e-28	BLAST
TSP1	419	473	3.78e-5	SMART
TSP1	474	528	5.64e-4	SMART
TSP1	529	585	1.25e-5	SMART
TSP1	605	659	1.45e-6	SMART
TSP1	661	715	4.41e-6	SMART
TSP1	747	799	7.06e-5	SMART
TSP1	800	855	4.24e-8	SMART
TSP1	859	914	8.23e-6	SMART
TSP1	915	970	1.23e-4	SMART
TSP1	971	1028	2e-4	SMART
TSP1	1030	1091	1.25e-5	SMART
TSP1	1095	1149	3.47e-4	SMART
Pfam:GON	1150	1350	2.1e-86	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace2	T	A	X: 162,946,996 (GRCm39)	V293D	probably damaging	Het
Adgrg6	T	C	10: 14,317,185 (GRCm39)	Y545C	probably damaging	Het
Arhgap40	A	G	2: 158,376,742 (GRCm39)	T293A	probably damaging	Het
Arhgef19	A	G	4: 140,973,707 (GRCm39)	T65A	probably damaging	Het
Brf1	A	G	12: 112,956,682 (GRCm39)		probably null	Het
Cbfb	T	C	8: 105,905,252 (GRCm39)	S65P	possibly damaging	Het
Chsy1	T	C	7: 65,821,576 (GRCm39)	S604P	possibly damaging	Het
Ckmt1	T	C	2: 121,191,643 (GRCm39)	V271A	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Csmd2	T	C	4: 128,371,263 (GRCm39)		probably benign	Het
D430041D05Rik	A	G	2: 104,038,559 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,007 (GRCm39)	T492A	probably benign	Het
Fam3a	G	A	X: 73,430,241 (GRCm39)	T156I	probably damaging	Het
Fbn2	A	T	18: 58,229,087 (GRCm39)	C708S	probably damaging	Het
Fgf5	G	A	5: 98,409,831 (GRCm39)	G127R	probably damaging	Het
Fhip1a	T	G	3: 85,637,939 (GRCm39)	K120T	probably damaging	Het
Fn3k	A	T	11: 121,325,909 (GRCm39)	Y32F	probably benign	Het
Frem3	T	C	8: 81,338,118 (GRCm39)	I137T	probably benign	Het
Hc	T	C	2: 34,903,531 (GRCm39)	D1041G	probably benign	Het
Heatr6	T	A	11: 83,655,708 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,309,553 (GRCm39)	A598T	probably benign	Het
Ifngr1	T	C	10: 19,483,007 (GRCm39)	S254P	probably benign	Het
Kel	T	C	6: 41,674,408 (GRCm39)	S341G	probably benign	Het
Klra6	A	C	6: 129,990,439 (GRCm39)	M224R	probably benign	Het
Mis18bp1	A	G	12: 65,183,522 (GRCm39)		probably null	Het
Mpeg1	C	T	19: 12,440,660 (GRCm39)	T706I	probably benign	Het
Mrpl41	T	C	2: 24,864,429 (GRCm39)	D81G	possibly damaging	Het
Or5al7	G	T	2: 85,993,181 (GRCm39)	F37L	probably benign	Het
Palld	T	C	8: 61,978,148 (GRCm39)	R881G	probably damaging	Het
Pdha2	A	T	3: 140,916,662 (GRCm39)	V282E	probably damaging	Het
Pga5	C	T	19: 10,654,065 (GRCm39)	R46Q	probably benign	Het
Plekhg2	T	C	7: 28,068,122 (GRCm39)	Y189C	probably damaging	Het
Rnf43	A	G	11: 87,622,479 (GRCm39)	T527A	probably benign	Het
Rplp0	G	A	5: 115,699,174 (GRCm39)	R73Q	probably benign	Het
Smco3	A	G	6: 136,808,197 (GRCm39)	*226R	probably null	Het
Sugp2	T	C	8: 70,712,324 (GRCm39)		probably benign	Het
Tsga10	T	C	1: 37,846,098 (GRCm39)	I343V	probably benign	Het
Ube2q2	A	G	9: 55,075,502 (GRCm39)	K104E	probably damaging	Het
Ube3a	C	T	7: 58,925,506 (GRCm39)		probably benign	Het
Usp11	T	C	X: 20,585,381 (GRCm39)	I785T	probably damaging	Het
Vmn2r22	A	T	6: 123,626,026 (GRCm39)	C137S	probably damaging	Het
Zfp281	T	C	1: 136,555,185 (GRCm39)	V721A	possibly damaging	Het
Zfp946	T	C	17: 22,672,469 (GRCm39)	S23P	probably damaging	Het
Zfyve1	A	G	12: 83,594,694 (GRCm39)	V766A	probably damaging	Het

Other mutations in A730049H05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01889:A730049H05Rik	APN	6	92,804,981 (GRCm39)	intron	probably benign
IGL02047:A730049H05Rik	APN	6	92,808,909 (GRCm39)	intron	probably benign
R1083:A730049H05Rik	UTSW	6	92,805,046 (GRCm39)	intron	probably benign
R3931:A730049H05Rik	UTSW	6	92,811,420 (GRCm39)	intron	probably benign
R6992:A730049H05Rik	UTSW	6	92,804,975 (GRCm39)	intron	probably benign
R7653:A730049H05Rik	UTSW	6	92,805,050 (GRCm39)	missense	unknown
R7886:A730049H05Rik	UTSW	6	92,811,437 (GRCm39)	missense	unknown
R8801:A730049H05Rik	UTSW	6	92,808,972 (GRCm39)	missense	unknown
R9033:A730049H05Rik	UTSW	6	92,808,934 (GRCm39)	missense	unknown
R9217:A730049H05Rik	UTSW	6	92,808,967 (GRCm39)	missense	unknown
X0065:A730049H05Rik	UTSW	6	92,808,916 (GRCm39)	critical splice acceptor site	probably null
Z1176:A730049H05Rik	UTSW	6	92,805,047 (GRCm39)	nonsense	probably null

Posted On

2014-05-07