Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:R3hdm1'

74115

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

R3hdm1

Ensembl Gene

ENSMUSG00000056211

Gene Name

R3H domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

128031038-128165473 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128144280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 816 (S816N)

Ref Sequence

ENSEMBL: ENSMUSP00000043103 (fasta)

Gene Model

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

AlphaFold

E9Q9Q2

Predicted Effect

probably benign
Transcript: ENSMUST00000036288
AA Change: S816N

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

SMART Domains

Protein: ENSMUSP00000043103
Gene: ENSMUSG00000056211
AA Change: S816N

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: ENSMUST00000190288

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,522,125 (GRCm39)	S108P	probably benign	Het
B3gat1	T	C	9: 26,667,206 (GRCm39)	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,805,558 (GRCm39)	S45N	probably benign	Het
Birc6	C	T	17: 74,929,920 (GRCm39)	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,766,602 (GRCm39)	D67G	possibly damaging	Het
Cand2	A	G	6: 115,762,086 (GRCm39)	T171A	probably benign	Het
Ccdc77	T	C	6: 120,311,757 (GRCm39)	Q247R	probably benign	Het
Cenpp	A	T	13: 49,801,118 (GRCm39)	V100D	probably damaging	Het
Cep135	A	G	5: 76,739,612 (GRCm39)	T3A	probably benign	Het
Eef2k	T	C	7: 120,484,038 (GRCm39)		probably benign	Het
Fga	T	C	3: 82,937,518 (GRCm39)	S132P	probably damaging	Het
Gpr6	T	A	10: 40,947,555 (GRCm39)	N9I	possibly damaging	Het
Gvin2	A	G	7: 105,546,009 (GRCm39)	S2348P	possibly damaging	Het
Hacd3	A	G	9: 64,905,587 (GRCm39)	F184L	probably damaging	Het
Heatr1	T	C	13: 12,413,819 (GRCm39)	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,499,884 (GRCm39)		probably benign	Het
Ighv8-6	T	C	12: 115,129,477 (GRCm39)	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,034,627 (GRCm39)		probably benign	Het
Jade2	T	C	11: 51,716,165 (GRCm39)	T347A	possibly damaging	Het
Kif18a	A	G	2: 109,128,787 (GRCm39)	T419A	probably benign	Het
Krt34	A	G	11: 99,929,606 (GRCm39)	S267P	possibly damaging	Het
Krt4	T	G	15: 101,828,716 (GRCm39)	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,564,989 (GRCm39)	E42D	probably benign	Het
Morc2b	A	G	17: 33,356,293 (GRCm39)	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,491,447 (GRCm39)	S557R	probably damaging	Het
Nup43	T	A	10: 7,545,320 (GRCm39)	F83I	probably benign	Het
Oosp2	A	G	19: 11,624,825 (GRCm39)	L155S	probably damaging	Het
Or1o1	G	T	17: 37,717,031 (GRCm39)	M197I	probably benign	Het
Plxnd1	T	A	6: 115,943,760 (GRCm39)	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,089,498 (GRCm39)	F79I	possibly damaging	Het
Prph	G	A	15: 98,956,517 (GRCm39)	S465N	possibly damaging	Het
Purg	A	T	8: 33,876,631 (GRCm39)	I90L	probably damaging	Het
Pxdn	C	A	12: 30,037,136 (GRCm39)	Q305K	probably benign	Het
Src	G	A	2: 157,311,423 (GRCm39)	G461R	probably damaging	Het
Tmem201	G	A	4: 149,804,045 (GRCm39)		probably benign	Het
Tnfrsf22	G	A	7: 143,197,111 (GRCm39)	P76L	probably damaging	Het
Triml1	T	C	8: 43,591,600 (GRCm39)		probably null	Het
Upp1	A	G	11: 9,086,100 (GRCm39)	*312W	probably null	Het
Wdfy3	G	T	5: 102,042,930 (GRCm39)	S1940R	probably damaging	Het
Xpc	T	C	6: 91,469,335 (GRCm39)	Y804C	probably damaging	Het
Xrn2	C	T	2: 146,876,767 (GRCm39)		probably benign	Het
Zfp106	A	T	2: 120,354,945 (GRCm39)	D1275E	possibly damaging	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
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
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

Posted On

2013-10-07