Mutagenetix > Incidental Mutation

Incidental Mutation 'R1237:Enthd1'

152474

Institutional Source

Beutler Lab

Gene Symbol

Enthd1

Ensembl Gene

ENSMUSG00000050439

Gene Name

ENTH domain containing 1

Synonyms

LOC383075

MMRRC Submission

039304-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R1237 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80336441-80449357 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80418799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 167 (S167P)

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: S167P

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

SMART Domains

Protein: ENSMUSP00000094072
Gene: ENSMUSG00000050439
AA Change: S167P

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: S167P

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

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 105,096,223 (GRCm39)	T500A	probably damaging	Het
Amz1	A	T	5: 140,727,039 (GRCm39)	M1L	probably damaging	Het
Angptl1	T	A	1: 156,686,154 (GRCm39)	N413K	probably damaging	Het
Ankrd13b	T	C	11: 77,365,400 (GRCm39)	T70A	probably damaging	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Ccdc174	C	T	6: 91,867,768 (GRCm39)		probably benign	Het
Ccnc	T	A	4: 21,730,457 (GRCm39)	F31L	probably benign	Het
Celsr1	A	C	15: 85,788,175 (GRCm39)	S2692R	probably benign	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Ddhd1	A	T	14: 45,839,107 (GRCm39)	D65E	probably benign	Het
Dync1h1	A	G	12: 110,632,393 (GRCm39)	N4504S	probably benign	Het
Fat1	A	T	8: 45,497,316 (GRCm39)	Y4267F	probably damaging	Het
Hectd4	C	T	5: 121,459,570 (GRCm39)	A813V	possibly damaging	Het
Ibtk	T	C	9: 85,602,801 (GRCm39)	S735G	probably benign	Het
Itga4	A	G	2: 79,109,490 (GRCm39)	I230V	probably null	Het
Kcnh8	A	T	17: 53,200,988 (GRCm39)	Q474L	probably damaging	Het
Kcnh8	G	T	17: 53,200,989 (GRCm39)	Q474H	probably damaging	Het
Mib1	C	T	18: 10,768,149 (GRCm39)	T466I	probably damaging	Het
Or12d12	T	A	17: 37,611,156 (GRCm39)	R52S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or2l5	A	C	16: 19,334,375 (GRCm39)	Y4D	probably benign	Het
Parp14	G	A	16: 35,677,130 (GRCm39)	A946V	probably benign	Het
Prdx6b	A	G	2: 80,123,520 (GRCm39)	I110V	probably benign	Het
Prf1	A	C	10: 61,139,428 (GRCm39)	D462A	probably benign	Het
Rps6ka5	T	C	12: 100,541,964 (GRCm39)	D391G	possibly damaging	Het
Scn7a	A	T	2: 66,510,639 (GRCm39)	N1254K	probably damaging	Het
Skor2	A	T	18: 76,963,827 (GRCm39)	K924*	probably null	Het
Slc22a21	A	G	11: 53,870,598 (GRCm39)	I29T	probably benign	Het
Tas2r140	T	C	6: 133,032,171 (GRCm39)	T196A	probably benign	Het
Thrap3	A	G	4: 126,073,862 (GRCm39)	S295P	probably benign	Het
Trim43a	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT	9: 88,465,042 (GRCm39)		probably benign	Het
Ubtd2	C	T	11: 32,466,125 (GRCm39)	R115W	probably damaging	Het
Unc93b1	A	G	19: 3,985,228 (GRCm39)	E12G	possibly damaging	Het
Vgll3	T	A	16: 65,636,459 (GRCm39)	Y203*	probably null	Het
Vmn1r212	G	A	13: 23,067,638 (GRCm39)	Q232*	probably null	Het
Vmn2r107	T	A	17: 20,576,947 (GRCm39)	L315*	probably null	Het
Vmn2r84	T	A	10: 130,223,725 (GRCm39)		probably null	Het
Washc5	A	G	15: 59,210,757 (GRCm39)		probably benign	Het

Other mutations in Enthd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01726:Enthd1	APN	15	80,336,652 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAGAGTCAAAGTTGCAGGCAAAG -3'
(R):5'- TTCAGGTCACTACATCCGGGAGAG -3'

Sequencing Primer
(F):5'- GACAGTCCTGCTGATACTGAG -3'
(R):5'- GGTCGAAGCAGGTCATAACTC -3'

Posted On

2014-01-29