Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:A730049H05Rik'

671492

Institutional Source

Beutler Lab

Gene Symbol

A730049H05Rik

Ensembl Gene

ENSMUSG00000048636

Gene Name

RIKEN cDNA A730049H05 gene

Synonyms

MMRRC Submission

068611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92793424-92820449 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 92808972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 100 (V100I)

Ref Sequence

ENSEMBL: ENSMUSP00000051623 (fasta)

Gene Model

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

AlphaFold

Q8C940

Predicted Effect

unknown
Transcript: ENSMUST00000057977
AA Change: V100I

SMART Domains

Protein: ENSMUSP00000051623
Gene: ENSMUSG00000048636
AA Change: V100I

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

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

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nampt	T	C	12: 32,888,373 (GRCm39)	Y175H	possibly damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly damaging	Het

Other mutations in A730049H05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01889:A730049H05Rik	APN	6	92,804,981 (GRCm39)	intron	probably benign
IGL02037:A730049H05Rik	APN	6	92,804,997 (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
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

Predicted Primers

PCR Primer
(F):5'- CATATCTCATCACCAGGCCTG -3'
(R):5'- TTACAGGTAGGCCACTAGACC -3'

Sequencing Primer
(F):5'- ACCAGGCCTGATTCTCCTTAATG -3'
(R):5'- CATTTACATGCATGCTAGGGATTC -3'

Posted On

2021-04-30