Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4472001:R3hdm4'

555871

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

PIT4472001 (G1)

Quality Score

150.008

Status

Not validated

Chromosome

Chromosomal Location

79910052-79921208 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 79913555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000044570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045529] [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000170409] [ENSMUST00000171416] [ENSMUST00000181321] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000218970] [ENSMUST00000219867]

AlphaFold

Q4VBF2

Predicted Effect

probably benign
Transcript: ENSMUST00000045529

SMART Domains

Protein: ENSMUSP00000040516
Gene: ENSMUSG00000035773

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	53	338	1.7e-6	PFAM
Pfam:7tm_1	59	323	7e-49	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000045628

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	1.2e-35	PFAM
Pfam:R3H	181	244	7.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105378

SMART Domains

Protein: ENSMUSP00000101017
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
low complexity region	13	28	N/A	INTRINSIC
WD40	94	133	1.05e-7	SMART
Blast:WD40	143	169	4e-8	BLAST
low complexity region	206	217	N/A	INTRINSIC
WD40	226	267	1.53e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164705

SMART Domains

Protein: ENSMUSP00000129229
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	172	6.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165684

SMART Domains

Protein: ENSMUSP00000129375
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
low complexity region	13	25	N/A	INTRINSIC
WD40	95	134	1.05e-7	SMART
Blast:WD40	144	170	4e-8	BLAST
low complexity region	207	218	N/A	INTRINSIC
WD40	227	268	1.53e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170409

SMART Domains

Protein: ENSMUSP00000126729
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	10	49	1.05e-7	SMART
Pfam:Med16	59	105	1.1e-9	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000171416

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
Pfam:R3H-assoc	43	177	4.9e-39	PFAM
Pfam:R3H	183	243	1.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181321

Predicted Effect

probably benign
Transcript: ENSMUST00000217976

Predicted Effect

probably null
Transcript: ENSMUST00000218750

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Coding Region Coverage

1x: 93.7%
3x: 90.8%
10x: 84.2%
20x: 70.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,620,560	P258T	probably damaging	Het
Arvcf	T	C	16: 18,402,949	V714A	possibly damaging	Het
Bcas3	A	G	11: 85,531,900	I532V	probably damaging	Het
Cbr1	T	A	16: 93,609,804	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,041,727	M102V	unknown	Het
Ccr1	T	C	9: 123,963,728	Y255C	probably damaging	Het
Cd300e	T	A	11: 115,054,510	I153F	possibly damaging	Het
Chd7	C	T	4: 8,753,101	L533F	unknown	Het
Cpvl	A	T	6: 53,896,479	F424Y	possibly damaging	Het
Cxcl16	C	T	11: 70,458,799	G80R	probably damaging	Het
Cyp2g1	T	C	7: 26,814,194	V186A	probably benign	Het
Cyp4f15	T	A	17: 32,702,824	M490K	probably damaging	Het
D630045J12Rik	A	T	6: 38,178,839	V1160D	probably damaging	Het
Fbn1	T	C	2: 125,306,501	D2609G	possibly damaging	Het
Fgf5	T	A	5: 98,261,979	V129E	probably damaging	Het
Fhl5	C	A	4: 25,211,194	C166F	probably damaging	Het
Frem1	G	A	4: 82,972,137	T1035I	probably benign	Het
Gcnt2	G	A	13: 40,917,937	V19M	probably benign	Het
Gga1	C	A	15: 78,893,636	A595D	probably damaging	Het
Gpaa1	C	T	15: 76,334,740	T594I	probably benign	Het
Gskip	C	T	12: 105,684,862		probably benign	Het
Ighv1-72	A	G	12: 115,758,000	V112A	probably damaging	Het
Krt16	T	A	11: 100,247,906	T185S	probably benign	Het
Lama1	T	C	17: 67,764,704	V862A		Het
Lats2	A	C	14: 57,699,357	Y558*	probably null	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Mnx1	T	C	5: 29,474,107	E326G	unknown	Het
Mtmr10	A	G	7: 64,333,358	E471G	probably benign	Het
Olfr488	C	T	7: 108,256,103	V12M	possibly damaging	Het
Otog	G	A	7: 46,295,849	V2177M	probably damaging	Het
Ovgp1	A	G	3: 105,986,990	E693G	unknown	Het
Pclo	T	C	5: 14,713,168	M600T	possibly damaging	Het
Pdgfra	T	A	5: 75,180,246	M622K	probably damaging	Het
Pdxdc1	A	G	16: 13,845,345	L428P	probably damaging	Het
Pfkfb4	T	C	9: 108,999,154	Y86H	probably benign	Het
Pik3cg	A	G	12: 32,204,984	Y335H	probably damaging	Het
Podnl1	G	A	8: 84,127,848	V150M		Het
Pou4f3	A	G	18: 42,394,652	M4V	probably benign	Het
Ppp1r13b	G	A	12: 111,832,640	R864C	probably damaging	Het
Skil	T	A	3: 31,098,232	V301D	probably damaging	Het
Sptb	G	A	12: 76,620,686	T879M	probably damaging	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Strip1	G	A	3: 107,628,170	A79V	probably benign	Het
Tpgs2	G	A	18: 25,168,595	T5M	possibly damaging	Het
Trim34a	T	A	7: 104,247,948	L73Q	probably damaging	Het
Trpv4	T	A	5: 114,626,923	T677S	probably damaging	Het
Vmn2r23	A	G	6: 123,712,977	T271A	possibly damaging	Het

Other mutations in R3hdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:R3hdm4	APN	10	79912091	missense	probably damaging	1.00
R0801:R3hdm4	UTSW	10	79913357	unclassified	probably benign
R1167:R3hdm4	UTSW	10	79912073	critical splice donor site	probably null
R3622:R3hdm4	UTSW	10	79912681	missense	possibly damaging	0.96
R5264:R3hdm4	UTSW	10	79913341	missense	probably benign	0.19
R5268:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5269:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5357:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5358:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5360:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5362:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5363:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5434:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5435:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5442:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5534:R3hdm4	UTSW	10	79912458	missense	possibly damaging	0.69
R5921:R3hdm4	UTSW	10	79913619	missense	probably damaging	1.00
R6041:R3hdm4	UTSW	10	79913661	missense	possibly damaging	0.46
R7391:R3hdm4	UTSW	10	79911109	missense	probably benign	0.00
R7496:R3hdm4	UTSW	10	79916874	missense	probably damaging	0.99
R7913:R3hdm4	UTSW	10	79911945	missense	probably damaging	1.00
R7983:R3hdm4	UTSW	10	79912723	missense	probably damaging	1.00
R9329:R3hdm4	UTSW	10	79913559	missense	probably damaging	1.00
R9706:R3hdm4	UTSW	10	79916821	critical splice donor site	probably null
X0022:R3hdm4	UTSW	10	79913652	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGATTGGGGTCATGCAGC -3'
(R):5'- ATGAAGCCCCTTGTTGCCAG -3'

Sequencing Primer
(F):5'- ATGCAGCCCTGGGTTCCTAC -3'
(R):5'- CCCTTGTTGCCAGGGAAAC -3'

Posted On

2019-06-07