Mutagenetix > Incidental Mutation

Incidental Mutation 'R5358:R3hdm4'

424186

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

C030046I01Rik

MMRRC Submission

042937-MU

Accession Numbers

Essential gene?

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

Stock #

R5358 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79745886-79752764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79748292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 162 (E162K)

Ref Sequence

ENSEMBL: ENSMUSP00000132266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045529] [ENSMUST00000045628] [ENSMUST00000105378] [ENSMUST00000164705] [ENSMUST00000165684] [ENSMUST00000166964] [ENSMUST00000171416] [ENSMUST00000217976] [ENSMUST00000218750] [ENSMUST00000219867] [ENSMUST00000181321] [ENSMUST00000218970] [ENSMUST00000170409]

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

possibly damaging
Transcript: ENSMUST00000045628
AA Change: E162K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: E162K

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: 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

possibly damaging
Transcript: ENSMUST00000171416
AA Change: E162K

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: E162K

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 benign
Transcript: ENSMUST00000217976

Predicted Effect

probably benign
Transcript: ENSMUST00000218750

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Predicted Effect

probably benign
Transcript: ENSMUST00000181321

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219206

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

noncoding transcript
Transcript: ENSMUST00000219883

Meta Mutation Damage Score

0.1452

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,849,165 (GRCm39)	V1842A	probably damaging	Het
Abi3	A	T	11: 95,732,934 (GRCm39)	F13L	probably benign	Het
Adgre4	A	G	17: 56,125,758 (GRCm39)	K538R	probably benign	Het
Bcas3	C	T	11: 85,342,581 (GRCm39)	H191Y	probably benign	Het
Bicdl2	A	G	17: 23,886,538 (GRCm39)	T376A	probably benign	Het
Ceacam18	C	A	7: 43,286,497 (GRCm39)	N123K	possibly damaging	Het
Celsr3	C	T	9: 108,709,224 (GRCm39)	R1357C	possibly damaging	Het
Chek2	T	C	5: 110,989,148 (GRCm39)		probably benign	Het
Chmp7	A	G	14: 69,958,684 (GRCm39)	V210A	probably benign	Het
Chrm2	A	G	6: 36,500,290 (GRCm39)	K49R	probably damaging	Het
Ciao2b	T	C	8: 105,368,282 (GRCm39)	N14S	probably damaging	Het
Daam1	T	A	12: 71,999,233 (GRCm39)	L623*	probably null	Het
Ddx31	T	A	2: 28,753,782 (GRCm39)	C448S	probably damaging	Het
Dnah7a	A	G	1: 53,586,331 (GRCm39)	S1507P	probably damaging	Het
Dnah8	C	A	17: 30,965,928 (GRCm39)	T2420K	probably damaging	Het
Dyrk3	C	T	1: 131,057,432 (GRCm39)	R247H	probably damaging	Het
Exoc4	A	G	6: 33,242,934 (GRCm39)	E49G	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Foxj3	A	G	4: 119,476,596 (GRCm39)	E258G	probably damaging	Het
Gata4	C	T	14: 63,478,075 (GRCm39)	A175T	probably benign	Het
Helz2	C	T	2: 180,877,321 (GRCm39)	E1106K	probably damaging	Het
Hip1	G	T	5: 135,465,252 (GRCm39)	S385R	probably benign	Het
Igsf9	C	T	1: 172,312,078 (GRCm39)	T8I	probably benign	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Katnal2	A	G	18: 77,105,190 (GRCm39)	Y86H	possibly damaging	Het
Kcnh6	A	T	11: 105,918,417 (GRCm39)	I756F	possibly damaging	Het
Kdm5b	C	T	1: 134,535,432 (GRCm39)	R570*	probably null	Het
Kif16b	T	A	2: 142,582,889 (GRCm39)	R545S	probably damaging	Het
Kif21b	T	A	1: 136,100,030 (GRCm39)	I1528N	possibly damaging	Het
Kmt2a	T	C	9: 44,730,571 (GRCm39)		probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mknk2	T	C	10: 80,507,597 (GRCm39)	T60A	probably benign	Het
Ncoa6	T	C	2: 155,248,907 (GRCm39)	K1466E	probably damaging	Het
Ntsr2	A	C	12: 16,704,083 (GRCm39)	T109P	probably damaging	Het
Nup214	C	A	2: 31,907,158 (GRCm39)	S995Y	unknown	Het
Or2a5	A	T	6: 42,873,454 (GRCm39)	Q23L	probably benign	Het
Pclo	T	A	5: 14,762,750 (GRCm39)	L456*	probably null	Het
Pde5a	A	G	3: 122,541,825 (GRCm39)	D105G	probably damaging	Het
Pik3c3	C	A	18: 30,456,597 (GRCm39)	P709H	probably damaging	Het
Rab3c	T	C	13: 110,198,497 (GRCm39)	N179S	possibly damaging	Het
Setdb2	T	A	14: 59,646,885 (GRCm39)	R559S	probably benign	Het
Sf3b1	A	G	1: 55,042,469 (GRCm39)	Y474H	probably benign	Het
Slc6a6	G	T	6: 91,712,155 (GRCm39)	W228L	probably benign	Het
Slc8a2	T	G	7: 15,891,228 (GRCm39)	I750S	probably damaging	Het
Slco2b1	T	A	7: 99,309,251 (GRCm39)	I194L	unknown	Het
Smarcd1	C	T	15: 99,601,128 (GRCm39)	Q45*	probably null	Het
Srcap	T	G	7: 127,139,492 (GRCm39)	L1271R	probably damaging	Het
Srsf12	A	T	4: 33,209,330 (GRCm39)	N9Y	probably damaging	Het
St7	T	C	6: 17,819,317 (GRCm39)	S74P	probably damaging	Het
Stxbp5l	T	A	16: 36,994,688 (GRCm39)	E739V	probably damaging	Het
Sun3	T	A	11: 8,981,496 (GRCm39)	Q36L	possibly damaging	Het
Tbc1d32	T	C	10: 56,047,033 (GRCm39)	H545R	possibly damaging	Het
Tcp11	A	T	17: 28,296,994 (GRCm39)	C133S	probably benign	Het
Tm6sf2	T	C	8: 70,526,939 (GRCm39)	V36A	possibly damaging	Het
Tmem108	T	C	9: 103,376,717 (GRCm39)	Y244C	probably damaging	Het
Tra2a	A	T	6: 49,227,949 (GRCm39)		probably benign	Het
Trpm3	A	T	19: 22,903,332 (GRCm39)	I1031F	probably damaging	Het
Ttll3	A	G	6: 113,378,292 (GRCm39)	K381E	probably benign	Het
Uaca	T	C	9: 60,778,430 (GRCm39)	V937A	probably benign	Het
Umod	C	T	7: 119,071,577 (GRCm39)	G388D	probably damaging	Het
Vmn2r90	G	A	17: 17,924,412 (GRCm39)		probably null	Het
Zbtb47	T	A	9: 121,594,661 (GRCm39)	F540Y	probably damaging	Het
Zfp644	G	A	5: 106,783,541 (GRCm39)	T1002I	probably damaging	Het
Zfp738	A	G	13: 67,819,131 (GRCm39)	Y287H	probably damaging	Het
Zfyve16	T	C	13: 92,644,771 (GRCm39)	T1144A	probably benign	Het
Zgrf1	T	C	3: 127,361,352 (GRCm39)		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
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
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'- AACATTCATTTCCACTGCCCAG -3'
(R):5'- CGTTACTTGGAGGATGAGAGCC -3'

Sequencing Primer
(F):5'- AGTCCTCTCCTTCCTAACCACTG -3'
(R):5'- CCAGGGCAAGCGGAGAC -3'

Posted On

2016-08-04