Mutagenetix > Incidental Mutation

Incidental Mutation 'R3852:Abhd4'

275986

Institutional Source

Beutler Lab

Gene Symbol

Abhd4

Ensembl Gene

ENSMUSG00000040997

Gene Name

abhydrolase domain containing 4

Synonyms

1110035H23Rik

MMRRC Submission

040784-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

R3852 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

54491586-54506626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54502824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 44 (Y44H)

Ref Sequence

ENSEMBL: ENSMUSP00000142607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041197] [ENSMUST00000180359] [ENSMUST00000196699] [ENSMUST00000197605] [ENSMUST00000197807] [ENSMUST00000199338]

AlphaFold

Q8VD66

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041197
AA Change: Y256H

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044134
Gene: ENSMUSG00000040997
AA Change: Y256H

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_4	78	340	1.1e-14	PFAM
Pfam:Abhydrolase_1	82	340	5.1e-26	PFAM
Pfam:Abhydrolase_5	83	334	5.8e-12	PFAM
Pfam:Abhydrolase_6	84	346	4.4e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180359
AA Change: Y219H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137214
Gene: ENSMUSG00000040997
AA Change: Y219H

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	46	297	4.3e-12	PFAM
Pfam:Abhydrolase_6	47	309	3.5e-34	PFAM
Pfam:Abhydrolase_1	71	311	5.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196699

Predicted Effect

probably benign
Transcript: ENSMUST00000197605

SMART Domains

Protein: ENSMUSP00000142722
Gene: ENSMUSG00000040997

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	46	182	3.5e-10	PFAM
Pfam:Abhydrolase_6	47	186	1.6e-23	PFAM
Pfam:Abhydrolase_1	71	179	2.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197802

Predicted Effect

probably damaging
Transcript: ENSMUST00000197807
AA Change: Y44H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

unknown
Transcript: ENSMUST00000199068
AA Change: Y97H

Predicted Effect

probably benign
Transcript: ENSMUST00000199338

SMART Domains

Protein: ENSMUSP00000143600
Gene: ENSMUSG00000040997

Domain	Start	End	E-Value	Type
SCOP:d1ehya_	1	78	3e-6	SMART

Meta Mutation Damage Score

0.2914

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	T	C	16: 20,379,189 (GRCm39)	V685A	probably damaging	Het
AI429214	A	G	8: 37,461,596 (GRCm39)	D248G	probably damaging	Het
Aoc1l3	C	T	6: 48,964,928 (GRCm39)	P312L	possibly damaging	Het
AY358078	A	G	14: 52,043,010 (GRCm39)	T233A	unknown	Het
Calcr	T	C	6: 3,693,735 (GRCm39)	Y353C	probably damaging	Het
Ccdc34	A	G	2: 109,862,773 (GRCm39)	K193E	possibly damaging	Het
Dhcr24	A	G	4: 106,431,070 (GRCm39)	E253G	probably benign	Het
Dnah6	A	G	6: 73,104,910 (GRCm39)	V1841A	possibly damaging	Het
Dpp10	A	T	1: 123,413,653 (GRCm39)	Y186*	probably null	Het
Dpysl4	C	T	7: 138,680,851 (GRCm39)	T575M	probably damaging	Het
Dusp7	T	A	9: 106,251,092 (GRCm39)	S406T	probably benign	Het
Gga3	T	A	11: 115,478,368 (GRCm39)	T475S	probably benign	Het
Gm10271	T	A	10: 116,792,779 (GRCm39)	K36*	probably null	Het
Gm572	G	A	4: 148,753,329 (GRCm39)	E325K	possibly damaging	Het
Golga2	A	G	2: 32,195,623 (GRCm39)	E806G	probably benign	Het
Igf1	A	T	10: 87,751,181 (GRCm39)	K126*	probably null	Het
Itpkc	A	T	7: 26,927,037 (GRCm39)	N292K	probably benign	Het
Klhl1	A	T	14: 96,517,641 (GRCm39)	M345K	probably benign	Het
Lrp2	A	G	2: 69,367,909 (GRCm39)	V201A	probably damaging	Het
Lrrc8a	C	T	2: 30,151,972 (GRCm39)	T757M	probably benign	Het
Mios	T	A	6: 8,216,453 (GRCm39)	I459K	probably benign	Het
Mrps11	T	C	7: 78,440,393 (GRCm39)	I94T	probably damaging	Het
Ms4a4c	T	A	19: 11,393,759 (GRCm39)	S68T	probably benign	Het
Mstn	C	T	1: 53,101,130 (GRCm39)	T69I	possibly damaging	Het
Myo10	A	G	15: 25,779,712 (GRCm39)	K28E	probably damaging	Het
Nol6	A	G	4: 41,117,452 (GRCm39)	S914P	probably damaging	Het
Ntn1	C	G	11: 68,276,619 (GRCm39)	D110H	probably damaging	Het
Or51f1e	T	C	7: 102,747,391 (GRCm39)	S148P	probably damaging	Het
Or52b4	C	A	7: 102,184,487 (GRCm39)	H178N	probably benign	Het
Pcdh17	C	T	14: 84,684,699 (GRCm39)	Q389*	probably null	Het
Pik3r2	G	A	8: 71,223,065 (GRCm39)	R452C	probably benign	Het
Prr14l	T	C	5: 32,987,689 (GRCm39)	E602G	probably damaging	Het
Rusc2	C	A	4: 43,416,424 (GRCm39)	Q577K	probably benign	Het
Sacm1l	T	A	9: 123,416,641 (GRCm39)	M534K	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slco4a1	C	T	2: 180,105,884 (GRCm39)	T22M	probably benign	Het
Tas2r104	A	T	6: 131,661,888 (GRCm39)	C274S	probably benign	Het
Tnrc6c	C	T	11: 117,614,355 (GRCm39)	R838W	probably damaging	Het
Trim43c	T	A	9: 88,722,454 (GRCm39)	H33Q	probably damaging	Het
Ttc17	A	T	2: 94,199,758 (GRCm39)	I411K	possibly damaging	Het
Ttn	G	T	2: 76,581,678 (GRCm39)	L23072I	possibly damaging	Het
Ttn	A	C	2: 76,785,368 (GRCm39)	V669G	possibly damaging	Het
Vmn1r60	A	T	7: 5,548,026 (GRCm39)	F25I	possibly damaging	Het
Vmn2r9	A	G	5: 108,995,997 (GRCm39)	I217T	probably damaging	Het

Other mutations in Abhd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01549:Abhd4	APN	14	54,504,589 (GRCm39)	missense	probably damaging	0.99
IGL02717:Abhd4	APN	14	54,499,079 (GRCm39)	intron	probably benign
R0254:Abhd4	UTSW	14	54,500,691 (GRCm39)	missense	probably benign	0.02
R0571:Abhd4	UTSW	14	54,500,706 (GRCm39)	missense	possibly damaging	0.73
R2015:Abhd4	UTSW	14	54,500,289 (GRCm39)	missense	probably damaging	0.99
R3974:Abhd4	UTSW	14	54,500,417 (GRCm39)	missense	probably damaging	1.00
R5806:Abhd4	UTSW	14	54,499,147 (GRCm39)	missense	probably benign	0.33
R7029:Abhd4	UTSW	14	54,500,164 (GRCm39)	missense	probably damaging	0.99
R7697:Abhd4	UTSW	14	54,500,216 (GRCm39)	missense	probably damaging	0.99
R7909:Abhd4	UTSW	14	54,499,087 (GRCm39)	nonsense	probably null
R8234:Abhd4	UTSW	14	54,499,133 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATAAGCGGGCAGGAGTTC -3'
(R):5'- TGTCTCCTAGAGCTCTGGTGAC -3'

Sequencing Primer
(F):5'- CGACCTTGAGCTTGAAACAGTTC -3'
(R):5'- AAGCAGTAGCTCAAAGCC -3'

Posted On

2015-04-06