Mutagenetix > Incidental Mutation

Incidental Mutation 'R5269:R3hdm4'

400087

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

C030046I01Rik

MMRRC Submission

042834-MU

Accession Numbers

Essential gene?

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

Stock #

R5269 (G1)

Quality Score

225

Status

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.9%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,595,717 (GRCm39)	S357P	possibly damaging	Het
Adam39	A	G	8: 41,279,018 (GRCm39)	I470V	probably benign	Het
Agrn	A	T	4: 156,253,447 (GRCm39)	C1708S	probably benign	Het
Agtpbp1	A	G	13: 59,621,557 (GRCm39)	I42T	probably damaging	Het
Akap6	T	C	12: 53,186,626 (GRCm39)	C1347R	probably damaging	Het
Antxr1	A	G	6: 87,157,165 (GRCm39)	L452P	probably damaging	Het
Arhgef33	T	A	17: 80,677,704 (GRCm39)	V417D	probably damaging	Het
Brca2	A	G	5: 150,462,688 (GRCm39)	I817M	possibly damaging	Het
Casp4	A	T	9: 5,321,521 (GRCm39)		probably benign	Het
Cdh20	T	C	1: 104,861,882 (GRCm39)	Y21H	possibly damaging	Het
Cdr2	C	T	7: 120,557,557 (GRCm39)	V323M	possibly damaging	Het
Cebpa	G	A	7: 34,819,283 (GRCm39)	R147H	probably benign	Het
Cetn4	C	A	3: 37,364,118 (GRCm39)	E31*	probably null	Het
Cobll1	G	A	2: 64,964,115 (GRCm39)	Q189*	probably null	Het
Colec12	A	G	18: 9,846,825 (GRCm39)	T74A	possibly damaging	Het
Crisp4	A	G	1: 18,198,934 (GRCm39)	S124P	probably damaging	Het
Eddm3b	T	A	14: 51,354,178 (GRCm39)	D55E	probably damaging	Het
Elmo1	C	A	13: 20,633,656 (GRCm39)	N439K	probably benign	Het
Fabp12	T	C	3: 10,315,167 (GRCm39)	N60S	probably benign	Het
Fat2	T	A	11: 55,178,704 (GRCm39)	H1452L	probably benign	Het
Flacc1	A	G	1: 58,730,919 (GRCm39)	S46P	possibly damaging	Het
Flrt2	T	C	12: 95,746,712 (GRCm39)	V350A	possibly damaging	Het
Ganab	T	C	19: 8,889,301 (GRCm39)	F626S	probably damaging	Het
Ghr	T	C	15: 3,349,561 (GRCm39)	Y539C	probably benign	Het
Gm6871	T	C	7: 41,197,525 (GRCm39)	T112A	probably damaging	Het
Gm7133	T	A	1: 97,110,848 (GRCm39)		noncoding transcript	Het
Gon4l	A	C	3: 88,802,835 (GRCm39)	I1149L	probably benign	Het
Greb1l	G	A	18: 10,511,409 (GRCm39)	D45N	probably benign	Het
H2-K2	A	G	17: 34,215,989 (GRCm39)		probably benign	Het
Herc2	C	T	7: 55,818,618 (GRCm39)	R2770*	probably null	Het
Insyn2b	G	A	11: 34,352,788 (GRCm39)	E277K	probably damaging	Het
Itsn2	A	G	12: 4,683,553 (GRCm39)		probably benign	Het
Klb	A	G	5: 65,506,140 (GRCm39)	D129G	probably damaging	Het
Klf1	A	G	8: 85,629,969 (GRCm39)	I265V	probably benign	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Map3k10	T	C	7: 27,357,957 (GRCm39)	E607G	probably benign	Het
Melk	C	T	4: 44,363,730 (GRCm39)	T592M	probably damaging	Het
Mroh6	A	G	15: 75,757,639 (GRCm39)	L457P	probably damaging	Het
Mrpl21	T	A	19: 3,337,012 (GRCm39)	C128S	probably damaging	Het
Or51f23	T	C	7: 102,453,327 (GRCm39)	V214A	probably benign	Het
Paqr4	G	T	17: 23,957,187 (GRCm39)	H105Q	probably damaging	Het
Pcdhga10	A	G	18: 37,881,747 (GRCm39)	I503V	probably benign	Het
Pds5a	T	C	5: 65,821,271 (GRCm39)	N151S	probably damaging	Het
Pif1	A	G	9: 65,499,111 (GRCm39)	T444A	possibly damaging	Het
Ppp2r3d	T	C	9: 101,031,064 (GRCm39)	R851G	probably damaging	Het
Ros1	T	G	10: 51,927,104 (GRCm39)	Q2172P	probably damaging	Het
Rpe65	A	G	3: 159,309,984 (GRCm39)	T86A	probably benign	Het
Rpl18a	G	A	8: 71,348,932 (GRCm39)	R15C	possibly damaging	Het
Sh3tc2	A	G	18: 62,108,684 (GRCm39)	K258R	probably benign	Het
Ska3	T	A	14: 58,059,573 (GRCm39)	E84V	possibly damaging	Het
Slc25a40	T	A	5: 8,497,409 (GRCm39)		probably null	Het
Slf1	A	T	13: 77,252,700 (GRCm39)	S274T	probably benign	Het
Spata21	A	T	4: 140,830,332 (GRCm39)	Q267H	probably damaging	Het
Strbp	A	T	2: 37,517,455 (GRCm39)	W207R	possibly damaging	Het
Taf6l	T	C	19: 8,752,326 (GRCm39)	E454G	probably damaging	Het
Tcam1	C	A	11: 106,176,353 (GRCm39)	L360I	probably benign	Het
Tnxb	G	A	17: 34,922,582 (GRCm39)	R2465H	possibly damaging	Het
Trim66	T	A	7: 109,056,797 (GRCm39)	Y1120F	probably benign	Het
Trp53	T	A	11: 69,480,031 (GRCm39)	M243K	probably damaging	Het
Ttl	T	A	2: 128,910,831 (GRCm39)	C72S	probably damaging	Het
Ttn	A	G	2: 76,539,240 (GRCm39)	V34582A	probably benign	Het
Uqcrh	T	C	4: 115,927,101 (GRCm39)	T31A	possibly damaging	Het
Usp40	A	G	1: 87,923,504 (GRCm39)	C256R	probably benign	Het
Vmn1r168	A	G	7: 23,240,839 (GRCm39)	E232G	probably benign	Het
Wdr72	A	T	9: 74,064,653 (GRCm39)	I562F	probably damaging	Het
Wnt4	A	G	4: 137,005,061 (GRCm39)	N24S	probably benign	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
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
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'- TCCGTTACTTGGAGGATGAGAG -3'

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

Posted On

2016-07-06