Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01726:Enthd1'

105265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Enthd1

Ensembl Gene

ENSMUSG00000050439

Gene Name

ENTH domain containing 1

Synonyms

LOC383075

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL01726

Quality Score

Status

Chromosome

Chromosomal Location

80336441-80449357 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80336652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 594 (L594R)

Ref Sequence

ENSEMBL: ENSMUSP00000155166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096347] [ENSMUST00000229110]

AlphaFold

E9Q1Z2

Predicted Effect

probably damaging
Transcript: ENSMUST00000096347
AA Change: L594R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094072
Gene: ENSMUSG00000050439
AA Change: L594R

Domain	Start	End	E-Value	Type
ENTH	15	141	1.53e-50	SMART
low complexity region	419	432	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000229110
AA Change: L594R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	T	C	3: 89,638,147 (GRCm39)		probably null	Het
Arpc2	A	G	1: 74,287,338 (GRCm39)	T53A	probably benign	Het
Ccdc170	C	A	10: 4,499,713 (GRCm39)	L545M	probably benign	Het
Ccm2l	T	C	2: 152,922,821 (GRCm39)		probably benign	Het
Celsr1	T	C	15: 85,810,391 (GRCm39)	N2166D	probably benign	Het
Clca4b	T	G	3: 144,634,103 (GRCm39)	D104A	probably damaging	Het
Clcnka	C	T	4: 141,120,051 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,551,518 (GRCm39)	N201K	probably damaging	Het
Cyp1a2	G	A	9: 57,589,485 (GRCm39)	L110F	possibly damaging	Het
Dhtkd1	T	C	2: 5,947,467 (GRCm39)	T6A	unknown	Het
Espnl	A	G	1: 91,272,626 (GRCm39)	D618G	probably benign	Het
Gm6096	A	T	7: 33,950,904 (GRCm39)	I148F	probably damaging	Het
Hsf5	C	T	11: 87,526,951 (GRCm39)	T541I	probably benign	Het
Il18r1	A	G	1: 40,537,563 (GRCm39)	S443G	possibly damaging	Het
Il1a	T	C	2: 129,146,640 (GRCm39)	D151G	possibly damaging	Het
Ints1	A	G	5: 139,754,166 (GRCm39)		probably benign	Het
Kcnh1	A	C	1: 192,188,164 (GRCm39)	D875A	possibly damaging	Het
Naip6	T	A	13: 100,439,760 (GRCm39)	I336F	probably benign	Het
Napepld	A	G	5: 21,880,657 (GRCm39)	F246S	possibly damaging	Het
Nova1	C	T	12: 46,760,280 (GRCm39)		probably null	Het
Nsa2	C	A	13: 97,268,525 (GRCm39)	A181S	probably damaging	Het
Ntn5	C	A	7: 45,343,671 (GRCm39)	R337S	probably damaging	Het
Nynrin	T	C	14: 56,101,611 (GRCm39)	S427P	probably benign	Het
Or52e5	A	G	7: 104,718,836 (GRCm39)	E54G	probably damaging	Het
Pcgf1	T	A	6: 83,055,867 (GRCm39)		probably null	Het
Pfn4	T	A	12: 4,824,446 (GRCm39)	L58I	probably benign	Het
Plekha1	C	A	7: 130,499,059 (GRCm39)	P116Q	probably damaging	Het
Pou5f2	T	C	13: 78,173,300 (GRCm39)	S81P	possibly damaging	Het
Prag1	A	G	8: 36,570,146 (GRCm39)	D243G	probably damaging	Het
Rbm26	G	A	14: 105,389,943 (GRCm39)	P227L	probably damaging	Het
Rgl1	A	T	1: 152,394,904 (GRCm39)	N756K	probably damaging	Het
Rhou	A	T	8: 124,380,880 (GRCm39)	T66S	possibly damaging	Het
Rspo3	A	T	10: 29,380,704 (GRCm39)	D103E	probably benign	Het
Rundc3b	T	C	5: 8,570,902 (GRCm39)	K306E	probably benign	Het
Slc25a32	A	G	15: 38,965,466 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Tars3	A	G	7: 65,332,566 (GRCm39)	T556A	possibly damaging	Het
Tmem266	A	G	9: 55,342,486 (GRCm39)	K324E	probably benign	Het
Tnrc6c	T	C	11: 117,640,161 (GRCm39)		probably benign	Het
Trappc9	A	T	15: 72,817,971 (GRCm39)	S452T	probably damaging	Het
Tspear	T	A	10: 77,717,121 (GRCm39)		probably benign	Het
Ttll5	T	G	12: 85,965,708 (GRCm39)	I571S	probably benign	Het
Ttn	T	C	2: 76,797,433 (GRCm39)	T544A	probably benign	Het
Ubn1	T	C	16: 4,891,334 (GRCm39)		probably null	Het
Ubr2	C	A	17: 47,303,907 (GRCm39)		probably benign	Het
Usp21	A	T	1: 171,111,574 (GRCm39)	W360R	probably damaging	Het
Vmn2r62	A	T	7: 42,414,526 (GRCm39)	L639H	probably damaging	Het
Zc3h7b	T	A	15: 81,656,000 (GRCm39)	I116N	possibly damaging	Het
Zfp618	C	T	4: 63,050,872 (GRCm39)	T551I	probably damaging	Het
Zfp804b	T	C	5: 7,230,707 (GRCm39)		probably benign	Het
Zkscan8	T	C	13: 21,704,973 (GRCm39)	H322R	probably benign	Het
Zwint	T	G	10: 72,493,019 (GRCm39)		probably null	Het

Other mutations in Enthd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Enthd1	APN	15	80,336,943 (GRCm39)	missense	probably damaging	1.00
PIT4151001:Enthd1	UTSW	15	80,336,937 (GRCm39)	missense	probably damaging	1.00
R0190:Enthd1	UTSW	15	80,418,695 (GRCm39)	splice site	probably null
R1237:Enthd1	UTSW	15	80,418,799 (GRCm39)	missense	probably damaging	1.00
R1616:Enthd1	UTSW	15	80,336,586 (GRCm39)	missense	probably damaging	1.00
R1697:Enthd1	UTSW	15	80,337,124 (GRCm39)	missense	probably damaging	1.00
R1826:Enthd1	UTSW	15	80,358,482 (GRCm39)	missense	probably damaging	0.99
R2037:Enthd1	UTSW	15	80,444,550 (GRCm39)	missense	possibly damaging	0.86
R3420:Enthd1	UTSW	15	80,444,225 (GRCm39)	missense	probably damaging	1.00
R3814:Enthd1	UTSW	15	80,336,883 (GRCm39)	missense	probably benign	0.11
R4049:Enthd1	UTSW	15	80,444,240 (GRCm39)	missense	probably damaging	0.99
R4403:Enthd1	UTSW	15	80,337,025 (GRCm39)	missense	probably benign	0.00
R4720:Enthd1	UTSW	15	80,444,510 (GRCm39)	missense	probably damaging	1.00
R6062:Enthd1	UTSW	15	80,336,916 (GRCm39)	missense	probably damaging	0.96
R6143:Enthd1	UTSW	15	80,393,487 (GRCm39)	missense	possibly damaging	0.96
R6984:Enthd1	UTSW	15	80,444,309 (GRCm39)	missense	probably damaging	1.00
R7062:Enthd1	UTSW	15	80,336,745 (GRCm39)	missense	probably damaging	1.00
R7105:Enthd1	UTSW	15	80,393,410 (GRCm39)	missense	probably benign	0.17
R7177:Enthd1	UTSW	15	80,358,415 (GRCm39)	missense	probably damaging	1.00
R7261:Enthd1	UTSW	15	80,444,416 (GRCm39)	missense	probably damaging	1.00
R8359:Enthd1	UTSW	15	80,358,356 (GRCm39)	missense	probably benign	0.01
R8511:Enthd1	UTSW	15	80,358,428 (GRCm39)	missense	probably damaging	1.00
R9564:Enthd1	UTSW	15	80,444,235 (GRCm39)	missense	probably damaging	0.99
R9620:Enthd1	UTSW	15	80,336,901 (GRCm39)	missense	probably benign	0.04

Posted On

2014-01-21