Mutagenetix > Incidental Mutation

Incidental Mutation 'R6618:R3hdm1'

524187

Institutional Source

Beutler Lab

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

MMRRC Submission

044741-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6618 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128121302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 269 (S269P)

Ref Sequence

ENSEMBL: ENSMUSP00000140209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036288] [ENSMUST00000187900] [ENSMUST00000190056]

AlphaFold

E9Q9Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000036288
AA Change: S612P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: S612P

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

noncoding transcript
Transcript: ENSMUST00000185471

Predicted Effect

probably benign
Transcript: ENSMUST00000185853

Predicted Effect

probably benign
Transcript: ENSMUST00000187900

SMART Domains

Protein: ENSMUSP00000141142
Gene: ENSMUSG00000056211

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	2.7e-14	PFAM
low complexity region	391	424	N/A	INTRINSIC
low complexity region	511	534	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189982

Predicted Effect

probably benign
Transcript: ENSMUST00000190056
AA Change: S269P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000140209
Gene: ENSMUSG00000056211
AA Change: S269P

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

Meta Mutation Damage Score

0.0573

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1b2	T	C	11: 69,494,289 (GRCm39)	D68G	probably damaging	Het
Barx2	G	A	9: 31,758,168 (GRCm39)	L257F	probably benign	Het
Bbx	C	G	16: 50,086,626 (GRCm39)	W90S	probably damaging	Het
Bmp1	T	A	14: 70,728,808 (GRCm39)	D588V	probably damaging	Het
Caskin2	C	T	11: 115,690,855 (GRCm39)	M1188I	possibly damaging	Het
Ccdc180	T	A	4: 45,950,708 (GRCm39)	I1651N	probably damaging	Het
Cimip2a	C	A	2: 25,110,635 (GRCm39)	L148M	probably benign	Het
Cr2	T	C	1: 194,839,687 (GRCm39)	D580G	probably damaging	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Fam204a	T	C	19: 60,209,069 (GRCm39)		probably null	Het
Fam83h	T	C	15: 75,875,360 (GRCm39)	D659G	probably damaging	Het
Garin3	A	G	11: 46,298,126 (GRCm39)	T477A	probably damaging	Het
Hells	G	T	19: 38,945,528 (GRCm39)	R589L	probably benign	Het
Helz	A	G	11: 107,489,976 (GRCm39)	T144A	probably benign	Het
Il1r1	T	A	1: 40,339,971 (GRCm39)	V258D	probably damaging	Het
Isoc2a	A	T	7: 4,898,325 (GRCm39)	I183F	probably benign	Het
Kat2a	G	T	11: 100,603,196 (GRCm39)		probably benign	Het
Klf9	A	G	19: 23,142,235 (GRCm39)	M232V	probably benign	Het
Lars1	G	T	18: 42,377,973 (GRCm39)	S147R	possibly damaging	Het
Mkrn3	A	G	7: 62,068,781 (GRCm39)	F337L	probably benign	Het
Mrc2	A	T	11: 105,240,708 (GRCm39)	N1466I	probably damaging	Het
Myo5c	G	A	9: 75,182,919 (GRCm39)		probably null	Het
Pigs	T	C	11: 78,232,056 (GRCm39)	L396P	probably damaging	Het
Prkcb	G	A	7: 122,226,886 (GRCm39)	R624Q	probably benign	Het
Racgap1	A	T	15: 99,521,875 (GRCm39)	I505K	probably damaging	Het
Ralgds	T	A	2: 28,440,523 (GRCm39)	D777E	probably benign	Het
Rdh14	A	G	12: 10,445,123 (GRCm39)	I325V	probably benign	Het
Rpn2	T	A	2: 157,163,781 (GRCm39)	H624Q	probably benign	Het
Scarb1	C	T	5: 125,381,394 (GRCm39)	S50N	probably damaging	Het
Shmt1	T	C	11: 60,683,772 (GRCm39)		probably null	Het
Slc49a3	G	T	5: 108,590,964 (GRCm39)	T400K	probably benign	Het
Smim24	A	G	10: 81,229,966 (GRCm39)	N27S	possibly damaging	Het
Snx13	A	G	12: 35,162,444 (GRCm39)	D550G	probably damaging	Het
Tnfsf18	T	A	1: 161,322,349 (GRCm39)	L23*	probably null	Het
Trpc3	T	A	3: 36,694,844 (GRCm39)	K703N	possibly damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Zfy2	A	G	Y: 2,121,477 (GRCm39)	S139P	probably benign	Homo

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
R5979:R3hdm1	UTSW	1	128,138,960 (GRCm39)	missense	probably benign	0.04
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
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'- ATTGTAGCATTTGCATTGGTAGG -3'
(R):5'- CCCAAGTTAGAGGTTCCTGAGAG -3'

Sequencing Primer
(F):5'- GTTTGGCCCATGAATGAAAGGC -3'
(R):5'- GGCTGAGGAAGAAACCCCTG -3'

Posted On

2018-06-22