Mutagenetix > Incidental Mutation

Incidental Mutation 'R7913:R3hdm4'

610676

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

C030046I01Rik

MMRRC Submission

045961-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7913 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79745886-79752764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79747779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 229 (A229T)

Ref Sequence

ENSEMBL: ENSMUSP00000044570 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000170409] [ENSMUST00000171416] [ENSMUST00000181321] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000218970] [ENSMUST00000219867]

AlphaFold

Q4VBF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000045628
AA Change: A229T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: A229T

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: ENSMUST00000166964

SMART Domains

Protein: ENSMUSP00000128463
Gene: ENSMUSG00000013833

Domain	Start	End	E-Value	Type
WD40	59	98	1.05e-7	SMART
Pfam:Med16	108	162	2.2e-12	PFAM

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: A229T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: A229T

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 benign
Transcript: ENSMUST00000218750

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apaf1	A	G	10: 90,896,133 (GRCm39)	V324A	probably damaging	Het
Aqp8	T	A	7: 123,063,495 (GRCm39)	I115N	possibly damaging	Het
Atrn	G	A	2: 130,812,131 (GRCm39)	C692Y	probably damaging	Het
Card10	A	T	15: 78,665,303 (GRCm39)	S717T	possibly damaging	Het
Cep78	T	C	19: 15,947,941 (GRCm39)	S408G	probably benign	Het
Col24a1	G	T	3: 145,137,621 (GRCm39)	G895*	probably null	Het
Cs	A	T	10: 128,186,310 (GRCm39)	K34N	possibly damaging	Het
Dchs1	T	C	7: 105,408,435 (GRCm39)	E1799G	possibly damaging	Het
Dlg5	A	T	14: 24,187,192 (GRCm39)		probably null	Het
Dpy19l4	A	T	4: 11,265,859 (GRCm39)	Y696*	probably null	Het
Dync1h1	A	T	12: 110,595,168 (GRCm39)	N1360I	probably benign	Het
Fgd2	G	T	17: 29,593,019 (GRCm39)	R423L	probably damaging	Het
Fmo4	T	C	1: 162,621,741 (GRCm39)	D490G	possibly damaging	Het
Gm5113	A	T	7: 29,877,648 (GRCm39)		probably benign	Het
Grid1	T	A	14: 35,291,654 (GRCm39)	W854R	probably damaging	Het
H2-M1	T	C	17: 36,981,129 (GRCm39)		probably null	Het
Hivep1	T	A	13: 42,309,842 (GRCm39)	M694K	probably benign	Het
Hsd17b6	T	C	10: 127,833,645 (GRCm39)	T79A	possibly damaging	Het
Hspa4	A	C	11: 53,153,134 (GRCm39)	V761G	probably benign	Het
Ifi203	T	C	1: 173,754,523 (GRCm39)	Y736C	probably damaging	Het
Mettl9	T	A	7: 120,675,524 (GRCm39)	L308Q	probably damaging	Het
Miox	A	G	15: 89,220,785 (GRCm39)	D230G	probably damaging	Het
Ncapd3	T	A	9: 26,959,522 (GRCm39)	C319*	probably null	Het
Ncs1	C	A	2: 31,177,296 (GRCm39)		probably null	Het
Nell1	T	A	7: 49,929,270 (GRCm39)	H392Q	possibly damaging	Het
Nlrp1b	C	A	11: 71,108,537 (GRCm39)	E321D	possibly damaging	Het
Nlrp9b	A	T	7: 19,779,725 (GRCm39)	H796L	probably benign	Het
Nudt16l1	C	A	16: 4,757,245 (GRCm39)	Q53K	possibly damaging	Het
Nyap1	A	G	5: 137,733,231 (GRCm39)	S601P	probably damaging	Het
Odf2l	C	T	3: 144,859,244 (GRCm39)	Q634*	probably null	Het
Or10al2	A	T	17: 37,982,999 (GRCm39)	E28D	probably benign	Het
Or12e14	A	G	2: 87,677,037 (GRCm39)	I141V	probably benign	Het
Or1e22	A	G	11: 73,377,224 (GRCm39)	V142A	probably benign	Het
Or5ac23	C	T	16: 59,149,606 (GRCm39)	D89N	possibly damaging	Het
Or5b120	T	A	19: 13,480,571 (GRCm39)	V288E	probably damaging	Het
Or5m10	T	A	2: 85,718,074 (GRCm39)	L310H	probably damaging	Het
Peg3	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC	7: 6,712,167 (GRCm39)		probably benign	Het
Pik3c2b	T	C	1: 133,017,799 (GRCm39)		probably null	Het
Pramel21	T	A	4: 143,341,615 (GRCm39)	Y15N	possibly damaging	Het
Prl3c1	A	G	13: 27,383,393 (GRCm39)	I40V	probably benign	Het
Rab3gap2	T	C	1: 184,995,013 (GRCm39)	S851P	possibly damaging	Het
Ralgapb	A	T	2: 158,307,859 (GRCm39)	I1056F	probably damaging	Het
Sec16b	T	C	1: 157,356,899 (GRCm39)	Y36H	probably benign	Het
Setd3	A	T	12: 108,073,924 (GRCm39)	V451D	probably benign	Het
Slc35e1	T	C	8: 73,238,506 (GRCm39)	K334R	probably damaging	Het
Synj1	A	T	16: 90,788,315 (GRCm39)	N184K	possibly damaging	Het
Syt1	T	C	10: 108,478,109 (GRCm39)	D105G	probably benign	Het
Taar7e	T	A	10: 23,913,902 (GRCm39)	C131S	possibly damaging	Het
Tead4	A	G	6: 128,220,331 (GRCm39)		probably null	Het
Tescl	C	A	7: 24,033,076 (GRCm39)	R83L	probably damaging	Het
Ufd1	G	T	16: 18,633,616 (GRCm39)	V14F	probably benign	Het
Ugt1a10	T	A	1: 87,983,477 (GRCm39)	Y92N	probably benign	Het
Vmn2r52	C	A	7: 9,896,877 (GRCm39)	V532L	probably benign	Het
Vmn2r67	G	A	7: 84,801,036 (GRCm39)	T300I	possibly damaging	Het
Wt1	T	G	2: 104,997,205 (GRCm39)	S381A	probably damaging	Het
Zbtb44	C	T	9: 30,965,504 (GRCm39)	Q305*	probably null	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
R5921:R3hdm4	UTSW	10	79,749,453 (GRCm39)	missense	probably damaging	1.00
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
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'- GACGCTCAACTTCAGACTTTAAC -3'
(R):5'- CAGGAAACCCTGGAGAGTTG -3'

Sequencing Primer
(F):5'- CTTCCCTGGAGCTGAGGATG -3'
(R):5'- TTGGGAGGAACGGCTGC -3'

Posted On

2019-12-20