Mutagenetix > Incidental Mutation

Incidental Mutation 'R7029:Abhd4'

546195

Institutional Source

Beutler Lab

Gene Symbol

Abhd4

Ensembl Gene

ENSMUSG00000040997

Gene Name

abhydrolase domain containing 4

Synonyms

1110035H23Rik

MMRRC Submission

045130-MU

Accession Numbers

Essential gene?

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

Stock #

R7029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54491586-54506626 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54500164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 63 (W63R)

Ref Sequence

ENSEMBL: ENSMUSP00000143121 (fasta)

Gene Model

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

AlphaFold

Q8VD66

Predicted Effect

probably benign
Transcript: ENSMUST00000041197
AA Change: W70R

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000044134
Gene: ENSMUSG00000040997
AA Change: W70R

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 benign
Transcript: ENSMUST00000180359
AA Change: W33R

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000137214
Gene: ENSMUSG00000040997
AA Change: W33R

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 damaging
Transcript: ENSMUST00000196699
AA Change: W63R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000197605
AA Change: W33R

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142722
Gene: ENSMUSG00000040997
AA Change: W33R

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

probably benign
Transcript: ENSMUST00000197807

Predicted Effect

probably benign
Transcript: ENSMUST00000199068

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,841 (GRCm39)	Q271R	probably benign	Het
Adcy5	A	G	16: 35,120,018 (GRCm39)	M1176V	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccn3	A	G	15: 54,611,171 (GRCm39)	D102G	possibly damaging	Het
Def6	A	G	17: 28,444,943 (GRCm39)	K447R	probably benign	Het
Dna2	T	C	10: 62,799,773 (GRCm39)	S726P	probably damaging	Het
Ell	G	A	8: 71,031,879 (GRCm39)	V15I	probably damaging	Het
Entrep2	T	A	7: 64,409,075 (GRCm39)	T440S	probably benign	Het
Epha3	T	A	16: 63,593,698 (GRCm39)	D130V	probably benign	Het
Gys1	A	G	7: 45,089,008 (GRCm39)	T200A	possibly damaging	Het
Habp4	A	T	13: 64,309,939 (GRCm39)	H47L	probably benign	Het
Iqcn	G	T	8: 71,161,511 (GRCm39)	V235L	possibly damaging	Het
Kcnj10	C	A	1: 172,196,563 (GRCm39)	R26S	probably benign	Het
Klhl1	T	A	14: 96,755,632 (GRCm39)	D41V	probably benign	Het
Lyn	A	G	4: 3,782,996 (GRCm39)	T410A	probably damaging	Het
Mga	A	G	2: 119,754,031 (GRCm39)	T847A	probably damaging	Het
Mrgpra3	G	T	7: 47,239,290 (GRCm39)	T212N	probably benign	Het
Myh4	T	C	11: 67,137,251 (GRCm39)	F491L	probably benign	Het
Neurl4	T	A	11: 69,801,562 (GRCm39)	I1206N	probably damaging	Het
Pcdhb15	T	A	18: 37,608,621 (GRCm39)	W618R	possibly damaging	Het
Pomc	A	G	12: 4,010,146 (GRCm39)	H129R	probably damaging	Het
Ppm1l	C	A	3: 69,460,399 (GRCm39)	H325Q	probably benign	Het
Psme4	A	G	11: 30,722,474 (GRCm39)		probably benign	Het
Reep2	A	G	18: 34,978,342 (GRCm39)	I74V	probably null	Het
Robo2	T	G	16: 73,745,225 (GRCm39)	E850A	probably damaging	Het
Scrn2	T	A	11: 96,921,262 (GRCm39)		probably benign	Het
Sfpq	G	A	4: 126,923,675 (GRCm39)	R673K	probably benign	Het
Sh2d3c	T	C	2: 32,644,581 (GRCm39)	*703R	probably null	Het
Spp1	A	G	5: 104,587,167 (GRCm39)	M85V	probably benign	Het
Srebf1	T	C	11: 60,097,810 (GRCm39)	E98G	probably damaging	Het
Srrm4	T	A	5: 116,582,851 (GRCm39)		probably benign	Het
Ticam1	A	T	17: 56,578,154 (GRCm39)	S314T	possibly damaging	Het
Tie1	T	C	4: 118,341,823 (GRCm39)	I209V	possibly damaging	Het
Vapa	G	A	17: 65,889,586 (GRCm39)	R194*	probably null	Het
Vcan	C	T	13: 89,838,360 (GRCm39)	D2395N	probably damaging	Het
Whamm	A	G	7: 81,241,574 (GRCm39)	H295R	probably benign	Het
Zdhhc14	A	G	17: 5,698,186 (GRCm39)	Y85C	probably damaging	Het
Zfp35	T	A	18: 24,136,583 (GRCm39)	F309Y	probably damaging	Het
Zfp423	C	A	8: 88,414,694 (GRCm39)	C1187F	probably damaging	Het
Zfp874b	T	C	13: 67,622,392 (GRCm39)	Y302C	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
R3852:Abhd4	UTSW	14	54,502,824 (GRCm39)	missense	probably damaging	1.00
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
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'- TCGACCTGTCATCACTGGGA -3'
(R):5'- ATGTTGGCCTTGAGCTTCG -3'

Sequencing Primer
(F):5'- ACCATAGAGCAATGTGGCTTCCTG -3'
(R):5'- GCCTTGAGCTTCGCCCAAAAC -3'

Posted On

2019-05-13