Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:R3hdm4'

461589

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

C030046I01Rik

MMRRC Submission

044118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79745886-79752764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79749453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 52 (V52E)

Ref Sequence

ENSEMBL: ENSMUSP00000132266 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000045628
AA Change: V52E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: V52E

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

noncoding transcript
Transcript: ENSMUST00000163125

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 damaging
Transcript: ENSMUST00000171416
AA Change: V52E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: V52E

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

noncoding transcript
Transcript: ENSMUST00000178620

Predicted Effect

probably damaging
Transcript: ENSMUST00000218750
AA Change: V42E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219206

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Predicted Effect

probably benign
Transcript: ENSMUST00000217976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219883

Predicted Effect

probably benign
Transcript: ENSMUST00000181321

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219358

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Meta Mutation Damage Score

0.3679

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Nek8	A	G	11: 78,063,885 (GRCm39)	M40T	probably damaging	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably damaging	Het

Other mutations in R3hdm4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:R3hdm4	APN	10	79,747,925 (GRCm39)	missense	probably damaging	1.00
PIT4472001:R3hdm4	UTSW	10	79,749,389 (GRCm39)	critical splice donor site	probably null
R0801:R3hdm4	UTSW	10	79,749,191 (GRCm39)	unclassified	probably benign
R1167:R3hdm4	UTSW	10	79,747,907 (GRCm39)	critical splice donor site	probably null
R3622:R3hdm4	UTSW	10	79,748,515 (GRCm39)	missense	possibly damaging	0.96
R5264:R3hdm4	UTSW	10	79,749,175 (GRCm39)	missense	probably benign	0.19
R5268:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5269:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5357:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5358:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5360:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5362:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5363:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5434:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5435:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5442:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R5534:R3hdm4	UTSW	10	79,748,292 (GRCm39)	missense	possibly damaging	0.69
R6041:R3hdm4	UTSW	10	79,749,495 (GRCm39)	missense	possibly damaging	0.46
R7391:R3hdm4	UTSW	10	79,746,943 (GRCm39)	missense	probably benign	0.00
R7496:R3hdm4	UTSW	10	79,752,708 (GRCm39)	missense	probably damaging	0.99
R7913:R3hdm4	UTSW	10	79,747,779 (GRCm39)	missense	probably damaging	1.00
R7983:R3hdm4	UTSW	10	79,748,557 (GRCm39)	missense	probably damaging	1.00
R9329:R3hdm4	UTSW	10	79,749,393 (GRCm39)	missense	probably damaging	1.00
R9706:R3hdm4	UTSW	10	79,752,655 (GRCm39)	critical splice donor site	probably null
X0022:R3hdm4	UTSW	10	79,749,486 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGATTGGGGTCATGCAGCC -3'
(R):5'- AAAACTTGTATCCTGGGGTGG -3'

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

Posted On

2017-02-28