Mutagenetix > Incidental Mutation

Incidental Mutation 'R9329:R3hdm4'

706734

Institutional Source

Beutler Lab

Gene Symbol

R3hdm4

Ensembl Gene

ENSMUSG00000035781

Gene Name

R3H domain containing 4

Synonyms

C030046I01Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9329 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79745886-79752764 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 79749393 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 72 (N72I)

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 damaging
Transcript: ENSMUST00000045628
AA Change: N72I

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

SMART Domains

Protein: ENSMUSP00000044570
Gene: ENSMUSG00000035781
AA Change: N72I

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 damaging
Transcript: ENSMUST00000171416
AA Change: N72I

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

SMART Domains

Protein: ENSMUSP00000132266
Gene: ENSMUSG00000035781
AA Change: N72I

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 damaging
Transcript: ENSMUST00000218750
AA Change: N62I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000218970

Predicted Effect

probably benign
Transcript: ENSMUST00000219867

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	G	6: 83,133,556 (GRCm39)	M1R	probably null	Het
Acap2	T	C	16: 30,946,238 (GRCm39)	D235G	probably damaging	Het
Adgrv1	C	A	13: 81,647,241 (GRCm39)	V3100F	probably damaging	Het
Aff4	A	G	11: 53,288,686 (GRCm39)	T401A	probably damaging	Het
Apcs	T	C	1: 172,722,391 (GRCm39)	T22A	probably benign	Het
Atf7ip2	T	C	16: 10,059,738 (GRCm39)	V426A	possibly damaging	Het
Bach2	A	G	4: 32,562,175 (GRCm39)	D214G	possibly damaging	Het
Baz2a	C	T	10: 127,960,925 (GRCm39)	A1578V	possibly damaging	Het
Camk1d	T	C	2: 5,449,954 (GRCm39)	I76V	probably benign	Het
Ccdc182	A	T	11: 88,185,324 (GRCm39)	M135L	probably benign	Het
Cd47	C	T	16: 49,716,731 (GRCm39)	T201I		Het
Chodl	T	C	16: 78,746,030 (GRCm39)	S290P	possibly damaging	Het
Chst15	A	G	7: 131,868,520 (GRCm39)	L300P	possibly damaging	Het
Ciita	T	C	16: 10,324,571 (GRCm39)	S168P	probably damaging	Het
Cntn2	C	T	1: 132,456,678 (GRCm39)	V123I	probably benign	Het
Cyld	T	A	8: 89,457,348 (GRCm39)	L527Q	probably benign	Het
Dbn1	T	A	13: 55,631,241 (GRCm39)	Y34F	probably damaging	Het
Enc1	C	A	13: 97,383,018 (GRCm39)	Y509*	probably null	Het
Ermard	A	T	17: 15,273,643 (GRCm39)	E409D	probably benign	Het
Extl3	T	C	14: 65,314,765 (GRCm39)	E139G	possibly damaging	Het
Fa2h	A	T	8: 112,082,115 (GRCm39)	V177E	possibly damaging	Het
Flot2	T	C	11: 77,949,772 (GRCm39)	I367T	probably damaging	Het
Fras1	T	C	5: 96,884,813 (GRCm39)	Y2564H	probably damaging	Het
Fxyd3	A	G	7: 30,773,018 (GRCm39)	V10A	probably benign	Het
Gfra3	A	G	18: 34,837,560 (GRCm39)	L146P	probably damaging	Het
Gm49359	T	C	13: 62,602,448 (GRCm39)	N251D	probably benign	Het
Hps6	A	G	19: 45,992,542 (GRCm39)	S160G	probably benign	Het
Hsd17b7	C	A	1: 169,794,875 (GRCm39)	A55S	probably damaging	Het
Hspa12a	T	C	19: 58,789,298 (GRCm39)	D446G	probably benign	Het
Htt	G	A	5: 34,989,957 (GRCm39)	R1163Q	possibly damaging	Het
Ift81	T	C	5: 122,697,833 (GRCm39)		probably null	Het
Ighv5-15	T	G	12: 113,790,395 (GRCm39)	Y75S	probably benign	Het
Kcnd2	T	A	6: 21,725,981 (GRCm39)	H491Q	probably damaging	Het
Lamb3	C	A	1: 193,014,665 (GRCm39)	T608K	probably benign	Het
Lrtm2	T	A	6: 119,297,412 (GRCm39)	K210*	probably null	Het
Med13	G	T	11: 86,189,283 (GRCm39)	P1209T	probably benign	Het
Mtus1	G	A	8: 41,537,239 (GRCm39)	T159I	probably damaging	Het
Myt1l	A	G	12: 29,901,659 (GRCm39)	M805V	unknown	Het
Neb	G	T	2: 52,160,231 (GRCm39)	L2261I	probably benign	Het
Nlrp4c	G	A	7: 6,068,498 (GRCm39)	R133H	probably benign	Het
Nol11	A	T	11: 107,071,765 (GRCm39)	L276Q	probably damaging	Het
Nrap	A	G	19: 56,350,277 (GRCm39)	Y614H	probably damaging	Het
Or13c9	G	A	4: 52,936,211 (GRCm39)	T24M	probably damaging	Het
Or52p1	A	G	7: 104,267,705 (GRCm39)	H273R	probably damaging	Het
Pou2f3	A	G	9: 43,040,224 (GRCm39)	S355P	probably damaging	Het
Ppm1l	C	A	3: 69,460,453 (GRCm39)	N343K	probably damaging	Het
Prh1	A	T	6: 132,548,573 (GRCm39)	I27F	unknown	Het
Prkrip1	A	T	5: 136,223,203 (GRCm39)	L85Q	probably damaging	Het
Pycr3	C	T	15: 75,790,563 (GRCm39)	V99I	probably benign	Het
Rab11fip3	G	T	17: 26,231,032 (GRCm39)	H738N	probably benign	Het
Rtl1	G	A	12: 109,556,673 (GRCm39)	A1722V	possibly damaging	Het
Sell	A	G	1: 163,893,122 (GRCm39)	N113D	probably damaging	Het
Smarcal1	T	C	1: 72,665,697 (GRCm39)	S732P	probably damaging	Het
Smurf2	A	T	11: 106,743,424 (GRCm39)	D207E	probably benign	Het
Spata31h1	G	A	10: 82,121,439 (GRCm39)	S3857L	probably benign	Het
Tat	C	T	8: 110,723,510 (GRCm39)	R333C	probably benign	Het
Tmem121b	A	T	6: 120,469,234 (GRCm39)	F494L	probably damaging	Het
Tmem198	C	A	1: 75,456,522 (GRCm39)	P89Q	probably damaging	Het
Tnks2	T	G	19: 36,835,284 (GRCm39)	C2G	probably damaging	Het
Trappc9	T	C	15: 72,673,202 (GRCm39)	E869G	unknown	Het
Trim42	T	A	9: 97,251,584 (GRCm39)	K105M	probably benign	Het
Ttll3	T	C	6: 113,369,635 (GRCm39)	S60P	probably benign	Het
Ttll4	T	A	1: 74,725,121 (GRCm39)	I625N	possibly damaging	Het
Tubgcp5	T	A	7: 55,479,181 (GRCm39)		probably null	Het
Txlnb	A	T	10: 17,682,594 (GRCm39)	Y172F	probably damaging	Het
Ube2e3	A	T	2: 78,744,035 (GRCm39)	D88V	possibly damaging	Het
Vmn1r189	T	A	13: 22,286,430 (GRCm39)	I136L	probably benign	Het
Vmn2r71	A	G	7: 85,267,950 (GRCm39)	I135V	probably benign	Het
Vmn2r73	T	A	7: 85,519,073 (GRCm39)	R516S	probably benign	Het
Wrn	C	T	8: 33,731,006 (GRCm39)	E1352K	probably benign	Het
Zfp318	T	C	17: 46,722,139 (GRCm39)	S1381P	probably damaging	Het
Zfp747	A	T	7: 126,973,655 (GRCm39)	Y172N	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
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
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'- ATGAAGCCCCTTGTTGCCAG -3'

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

Posted On

2022-04-18