Mutagenetix > Incidental Mutations

Incidental Mutation 'R1083:A730049H05Rik'

84918

Institutional Source

Beutler Lab

Gene Symbol

A730049H05Rik

Ensembl Gene

ENSMUSG00000048636

Gene Name

RIKEN cDNA A730049H05 gene

Synonyms

MMRRC Submission

039169-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1083 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92816478-92847174 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 92828065 bp (GRCm38)

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: S69P

SMART Domains

Protein: ENSMUSP00000051623
Gene: ENSMUSG00000048636
AA Change: S69P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.0%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	G	A	7: 67,147,574	C986Y	probably damaging	Het
AI987944	A	G	7: 41,375,339	V75A	probably benign	Het
Arhgap10	T	C	8: 77,517,749	Y12C	probably damaging	Het
Atp11b	G	A	3: 35,778,013		probably benign	Het
Ccer1	T	A	10: 97,694,658	D394E	possibly damaging	Het
Cdh2	T	C	18: 16,643,959	N273S	possibly damaging	Het
Cfap65	G	T	1: 74,918,504		probably benign	Het
Crybb3	A	T	5: 113,080,578		probably benign	Het
D7Ertd443e	G	A	7: 134,348,934	Q337*	probably null	Het
Dixdc1	C	T	9: 50,676,993		probably benign	Het
Dut	GCGGC	GCGGCCGGC	2: 125,247,828		probably null	Het
Fbxo2	A	G	4: 148,165,777		probably null	Het
Gm5174	T	C	10: 86,656,108		noncoding transcript	Het
Gpam	A	G	19: 55,088,211		probably benign	Het
Il12a	C	T	3: 68,695,333	T112M	probably damaging	Het
Itpr1	T	A	6: 108,510,696	V2361D	possibly damaging	Het
Jag1	G	A	2: 137,096,232	L283F	probably damaging	Het
Lamb2	A	C	9: 108,483,693	D538A	probably benign	Het
Map10	T	A	8: 125,670,439	C190*	probably null	Het
Pcnx2	C	T	8: 125,772,104	R1552H	probably damaging	Het
Phf1	T	C	17: 26,937,270		probably benign	Het
Pitx2	A	G	3: 129,218,769	T276A	probably damaging	Het
Pparg	A	G	6: 115,490,146	D490G	probably damaging	Het
Rnf10	A	T	5: 115,260,104		probably benign	Het
Sbp	T	C	17: 23,942,730		probably benign	Het
Setbp1	A	T	18: 78,857,626	L942H	probably damaging	Het
Sf3b1	C	G	1: 55,019,395	E12Q	possibly damaging	Het
Sfmbt1	A	T	14: 30,787,541	N326Y	possibly damaging	Het
Slx4	G	A	16: 3,990,910	Q389*	probably null	Het
Srrm3	T	A	5: 135,854,409	V206E	probably damaging	Het
Sspo	T	A	6: 48,470,999	D2270E	possibly damaging	Het
Sulf1	AAGGGA	AAGGGAGGGA	1: 12,836,164		probably null	Het
Vmn1r14	T	A	6: 57,234,199	I210N	probably damaging	Het
Wasf3	T	G	5: 146,435,372	L13R	probably damaging	Het
Yes1	T	C	5: 32,651,757		probably null	Het
Zfp292	T	C	4: 34,807,569	D1830G	probably damaging	Het
Zfp541	A	G	7: 16,078,712	N430S	probably benign	Het

Other mutations in A730049H05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01889:A730049H05Rik	APN	6	92828000	intron	probably benign
IGL02037:A730049H05Rik	APN	6	92828016	intron	probably benign
IGL02047:A730049H05Rik	APN	6	92831928	intron	probably benign
R3931:A730049H05Rik	UTSW	6	92834439	intron	probably benign
R6992:A730049H05Rik	UTSW	6	92827994	intron	probably benign
R7653:A730049H05Rik	UTSW	6	92828069	missense	unknown
R7886:A730049H05Rik	UTSW	6	92834456	missense	unknown
R8801:A730049H05Rik	UTSW	6	92831991	missense	unknown
R9033:A730049H05Rik	UTSW	6	92831953	missense	unknown
R9217:A730049H05Rik	UTSW	6	92831986	missense	unknown
X0065:A730049H05Rik	UTSW	6	92831935	critical splice acceptor site	probably null
Z1176:A730049H05Rik	UTSW	6	92828066	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGACGCTTTGCACTCACTAAC -3'
(R):5'- ACATCTGGTACAGTTCGACCAGTCC -3'

Sequencing Primer
(F):5'- GAAATTCCTGCATTTCAACTCAGC -3'
(R):5'- GACCAGTCCTGGCCTACATTC -3'

Posted On

2013-11-18