Mutagenetix > Incidental Mutation

Incidental Mutation 'R5979:R3hdm1'

481283

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

044161-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5979 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128138960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 380 (N380S)

Ref Sequence

ENSEMBL: ENSMUSP00000140209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000190056]

AlphaFold

E9Q9Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000036288
AA Change: N723S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: N723S

Domain	Start	End	E-Value	Type
coiled coil region	9	31	N/A	INTRINSIC
low complexity region	68	82	N/A	INTRINSIC
low complexity region	86	99	N/A	INTRINSIC
R3H	151	228	3.18e-22	SMART
Pfam:SUZ	249	302	8.8e-15	PFAM
low complexity region	391	424	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC
low complexity region	624	642	N/A	INTRINSIC
low complexity region	909	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190056
AA Change: N380S

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: N380S

Domain	Start	End	E-Value	Type
low complexity region	82	115	N/A	INTRINSIC
low complexity region	202	225	N/A	INTRINSIC
low complexity region	281	299	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190288

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

100% (87/87)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	A	G	2: 155,364,029 (GRCm39)	I103V	possibly damaging	Het
Adam3	T	C	8: 25,167,383 (GRCm39)	N36S	probably benign	Het
Adamts3	A	G	5: 90,009,528 (GRCm39)	V45A	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Agtpbp1	A	T	13: 59,681,860 (GRCm39)	L69*	probably null	Het
Alkbh5	T	A	11: 60,429,517 (GRCm39)	I90N	probably damaging	Het
Alx1	T	C	10: 102,858,120 (GRCm39)	Y193C	probably damaging	Het
Ankrd11	T	G	8: 123,619,139 (GRCm39)	D1571A	probably damaging	Het
Brd4	T	C	17: 32,417,700 (GRCm39)	D124G	probably benign	Het
C2cd2	G	A	16: 97,676,418 (GRCm39)	T443I	probably benign	Het
Casp8	A	T	1: 58,868,071 (GRCm39)	M171L	probably benign	Het
Cd200r4	G	A	16: 44,653,295 (GRCm39)	V22I	probably benign	Het
Cdcp2	A	G	4: 106,962,478 (GRCm39)	Y217C	probably damaging	Het
Cfh	C	A	1: 140,046,409 (GRCm39)	V556F	possibly damaging	Het
Chka	T	G	19: 3,934,513 (GRCm39)	I182M	probably damaging	Het
Cope	T	C	8: 70,755,193 (GRCm39)		probably null	Het
Coq10b	T	C	1: 55,092,077 (GRCm39)	V15A	probably benign	Het
Cpne9	T	A	6: 113,270,710 (GRCm39)	S309T	probably benign	Het
Daam2	T	A	17: 49,766,232 (GRCm39)	H992L	possibly damaging	Het
Dctn3	T	C	4: 41,715,393 (GRCm39)		probably null	Het
Dhx35	G	T	2: 158,684,789 (GRCm39)	R536L	probably benign	Het
Dnah8	G	T	17: 31,034,638 (GRCm39)	E4186*	probably null	Het
Dnah9	A	G	11: 65,725,307 (GRCm39)	L4282P	probably damaging	Het
Dpp10	A	G	1: 123,312,012 (GRCm39)		probably null	Het
Dst	T	A	1: 34,199,453 (GRCm39)		probably benign	Het
Ehbp1	C	A	11: 22,101,887 (GRCm39)	V214L	probably benign	Het
Fam131b	T	C	6: 42,298,905 (GRCm39)	D25G	probably damaging	Het
Fbxl13	T	A	5: 21,787,089 (GRCm39)	I283F	probably damaging	Het
Gabrr3	T	G	16: 59,254,931 (GRCm39)	N205K	possibly damaging	Het
Got1l1	C	T	8: 27,687,951 (GRCm39)		probably null	Het
Gprin1	G	A	13: 54,887,791 (GRCm39)	A161V	probably benign	Het
Hepacam2	A	T	6: 3,476,149 (GRCm39)	F183I	probably damaging	Het
Hmx2	A	G	7: 131,156,279 (GRCm39)	T82A	probably benign	Het
Igsf10	C	T	3: 59,243,894 (GRCm39)	E147K	probably damaging	Het
Kndc1	G	A	7: 139,519,740 (GRCm39)	A1700T	probably benign	Het
Knl1	T	C	2: 118,899,841 (GRCm39)	V514A	possibly damaging	Het
Lama2	T	C	10: 27,111,728 (GRCm39)	D764G	probably damaging	Het
Lgi3	G	A	14: 70,773,900 (GRCm39)	R358H	probably damaging	Het
Limd1	G	T	9: 123,308,479 (GRCm39)	Q59H	possibly damaging	Het
Lrrk2	A	G	15: 91,657,148 (GRCm39)	Y1814C	possibly damaging	Het
Lysmd3	G	A	13: 81,813,393 (GRCm39)		probably null	Het
Mroh7	T	C	4: 106,578,123 (GRCm39)	N185S	probably benign	Het
Muc2	A	G	7: 141,283,493 (GRCm39)		probably null	Het
Muc2	G	A	7: 141,305,143 (GRCm39)	G149D	probably damaging	Het
Nlrp3	T	C	11: 59,439,797 (GRCm39)	F458S	probably benign	Het
Nop58	A	T	1: 59,741,990 (GRCm39)	D173V	probably damaging	Het
Nrxn1	C	T	17: 91,395,631 (GRCm39)	R175H	possibly damaging	Het
Nxpe4	A	G	9: 48,307,862 (GRCm39)	N322S	probably benign	Het
Ocstamp	A	G	2: 165,239,467 (GRCm39)	S240P	probably damaging	Het
Or10a5	G	A	7: 106,635,543 (GRCm39)	M60I	probably damaging	Het
Or2j3	T	C	17: 38,616,083 (GRCm39)	K90E	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,666 (GRCm39)	H242R	probably damaging	Het
Ovch2	G	A	7: 107,393,595 (GRCm39)	T177I	possibly damaging	Het
Parn	A	C	16: 13,424,035 (GRCm39)	L454R	probably damaging	Het
Pcdhb12	T	A	18: 37,571,044 (GRCm39)	L730Q	possibly damaging	Het
Phf3	G	T	1: 30,844,827 (GRCm39)	F1377L	probably damaging	Het
Pign	G	T	1: 105,516,999 (GRCm39)	S542R	probably benign	Het
Prex2	G	T	1: 11,202,596 (GRCm39)	V502F	probably damaging	Het
Psmd1	A	T	1: 86,017,775 (GRCm39)	I529F	possibly damaging	Het
Ptafr	A	G	4: 132,306,616 (GRCm39)	E2G	probably benign	Het
Rbm12	A	C	2: 155,939,679 (GRCm39)		probably benign	Het
Rgl1	A	G	1: 152,433,244 (GRCm39)	Y174H	probably damaging	Het
Rps6kc1	A	G	1: 190,532,632 (GRCm39)	S457P	probably damaging	Het
Sall4	A	T	2: 168,592,263 (GRCm39)	S964T	probably benign	Het
Sart1	T	A	19: 5,431,251 (GRCm39)	I681F	probably damaging	Het
Serinc5	T	C	13: 92,797,644 (GRCm39)	L49P	probably benign	Het
Serpinb9e	T	C	13: 33,439,036 (GRCm39)	V154A	probably benign	Het
Skic2	A	T	17: 35,060,439 (GRCm39)	N851K	probably benign	Het
Smox	G	A	2: 131,358,334 (GRCm39)	V136I	probably damaging	Het
Sspo	C	T	6: 48,440,627 (GRCm39)	T1747I	probably benign	Het
Swt1	A	T	1: 151,283,339 (GRCm39)	D339E	possibly damaging	Het
Synpo2	A	G	3: 122,911,060 (GRCm39)	L195P	probably damaging	Het
Syt7	G	T	19: 10,420,843 (GRCm39)	G414W	probably damaging	Het
Tmem186	G	A	16: 8,454,024 (GRCm39)	T79I	probably damaging	Het
Tmem39a	A	T	16: 38,396,106 (GRCm39)	N113I	probably damaging	Het
Trim14	C	T	4: 46,507,239 (GRCm39)	V326M	probably damaging	Het
Trim58	A	G	11: 58,536,909 (GRCm39)	E234G	probably damaging	Het
Ttr	T	C	18: 20,803,059 (GRCm39)	L75P	probably damaging	Het
Ubr1	C	T	2: 120,776,863 (GRCm39)	V293I	probably benign	Het
Vmn1r91	T	A	7: 19,835,990 (GRCm39)	V303E	probably benign	Het
Vmn2r30	A	C	7: 7,315,334 (GRCm39)	I833S	probably damaging	Het
Zfp131	G	T	13: 120,237,982 (GRCm39)	N125K	probably benign	Het
Zfp169	A	T	13: 48,644,516 (GRCm39)		probably benign	Het
Zfp213	C	A	17: 23,776,885 (GRCm39)	E386*	probably null	Het

Other mutations in R3hdm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00757:R3hdm1	APN	1	128,164,176 (GRCm39)	missense	probably damaging	1.00
IGL00799:R3hdm1	APN	1	128,102,700 (GRCm39)	missense	probably damaging	1.00
IGL00835:R3hdm1	APN	1	128,163,369 (GRCm39)	splice site	probably benign
IGL00885:R3hdm1	APN	1	128,164,175 (GRCm39)	missense	probably damaging	0.99
IGL00990:R3hdm1	APN	1	128,089,933 (GRCm39)	intron	probably benign
IGL01137:R3hdm1	APN	1	128,109,612 (GRCm39)	missense	probably damaging	1.00
IGL01323:R3hdm1	APN	1	128,144,280 (GRCm39)	missense	probably benign
IGL01461:R3hdm1	APN	1	128,106,643 (GRCm39)	missense	probably damaging	1.00
IGL01565:R3hdm1	APN	1	128,114,553 (GRCm39)	missense	probably damaging	1.00
IGL01813:R3hdm1	APN	1	128,102,970 (GRCm39)	critical splice donor site	probably null
IGL01837:R3hdm1	APN	1	128,114,497 (GRCm39)	nonsense	probably null
IGL01934:R3hdm1	APN	1	128,164,272 (GRCm39)	missense	probably benign	0.12
IGL02074:R3hdm1	APN	1	128,096,775 (GRCm39)	missense	possibly damaging	0.48
IGL02532:R3hdm1	APN	1	128,124,836 (GRCm39)	critical splice donor site	probably null
IGL02606:R3hdm1	APN	1	128,118,456 (GRCm39)	missense	probably benign	0.00
IGL02851:R3hdm1	APN	1	128,102,677 (GRCm39)	splice site	probably benign
driven	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R0023:R3hdm1	UTSW	1	128,138,929 (GRCm39)	splice site	probably benign
R0280:R3hdm1	UTSW	1	128,090,512 (GRCm39)	missense	probably benign	0.00
R0482:R3hdm1	UTSW	1	128,112,254 (GRCm39)	missense	probably benign	0.12
R0521:R3hdm1	UTSW	1	128,121,440 (GRCm39)	missense	probably benign	0.07
R0578:R3hdm1	UTSW	1	128,159,174 (GRCm39)	nonsense	probably null
R0698:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0701:R3hdm1	UTSW	1	128,109,476 (GRCm39)	missense	probably damaging	1.00
R0961:R3hdm1	UTSW	1	128,121,333 (GRCm39)	missense	probably benign	0.13
R1026:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1141:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1319:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1320:R3hdm1	UTSW	1	128,159,142 (GRCm39)	missense	probably benign	0.01
R1511:R3hdm1	UTSW	1	128,124,742 (GRCm39)	missense	probably damaging	1.00
R1705:R3hdm1	UTSW	1	128,162,821 (GRCm39)	missense	probably damaging	1.00
R1991:R3hdm1	UTSW	1	128,096,753 (GRCm39)	missense	probably damaging	0.99
R2140:R3hdm1	UTSW	1	128,118,430 (GRCm39)	missense	probably damaging	0.99
R2437:R3hdm1	UTSW	1	128,114,573 (GRCm39)	missense	probably damaging	0.98
R2447:R3hdm1	UTSW	1	128,114,666 (GRCm39)	intron	probably benign
R4564:R3hdm1	UTSW	1	128,149,396 (GRCm39)	missense	probably benign	0.16
R4640:R3hdm1	UTSW	1	128,102,975 (GRCm39)	splice site	probably benign
R4649:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4650:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4652:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4653:R3hdm1	UTSW	1	128,112,181 (GRCm39)	missense	probably damaging	1.00
R4696:R3hdm1	UTSW	1	128,164,503 (GRCm39)	utr 3 prime	probably benign
R5393:R3hdm1	UTSW	1	128,159,084 (GRCm39)	missense	probably benign
R5554:R3hdm1	UTSW	1	128,164,409 (GRCm39)	missense	probably benign	0.27
R6123:R3hdm1	UTSW	1	128,096,773 (GRCm39)	missense	probably damaging	0.99
R6185:R3hdm1	UTSW	1	128,079,598 (GRCm39)	missense	possibly damaging	0.93
R6618:R3hdm1	UTSW	1	128,121,302 (GRCm39)	missense	probably benign	0.00
R6636:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6639:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R6756:R3hdm1	UTSW	1	128,090,548 (GRCm39)	frame shift	probably null
R7168:R3hdm1	UTSW	1	128,144,232 (GRCm39)	missense	probably benign	0.05
R7210:R3hdm1	UTSW	1	128,138,945 (GRCm39)	missense	possibly damaging	0.95
R7367:R3hdm1	UTSW	1	128,081,129 (GRCm39)	missense	possibly damaging	0.64
R7536:R3hdm1	UTSW	1	128,109,948 (GRCm39)	splice site	probably null
R7896:R3hdm1	UTSW	1	128,096,703 (GRCm39)	splice site	probably null
R8391:R3hdm1	UTSW	1	128,121,215 (GRCm39)	missense
R8486:R3hdm1	UTSW	1	128,106,657 (GRCm39)	missense	probably benign	0.11
R8490:R3hdm1	UTSW	1	128,162,864 (GRCm39)	missense	probably benign	0.26
R8947:R3hdm1	UTSW	1	128,102,694 (GRCm39)	missense	possibly damaging	0.60
R8990:R3hdm1	UTSW	1	128,106,833 (GRCm39)	missense	probably damaging	1.00
R9141:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9195:R3hdm1	UTSW	1	128,089,975 (GRCm39)	missense	probably benign	0.28
R9426:R3hdm1	UTSW	1	128,164,212 (GRCm39)	missense	probably damaging	1.00
R9469:R3hdm1	UTSW	1	128,106,921 (GRCm39)	critical splice donor site	probably null
X0017:R3hdm1	UTSW	1	128,095,658 (GRCm39)	missense	possibly damaging	0.92
X0020:R3hdm1	UTSW	1	128,096,770 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGTGAATTTCCTCACC -3'
(R):5'- CCATCTATCCCTAAAGCAGGTG -3'

Sequencing Primer
(F):5'- GTGAATTTCCTCACCCATAGAAGTC -3'
(R):5'- TATCCCTAAAGCAGGTGAGAGAAAAC -3'

Posted On

2017-06-26