Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03204:Abhd14a'

413086

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd14a

Ensembl Gene

ENSMUSG00000042210

Gene Name

abhydrolase domain containing 14A

Synonyms

Dorz1, 1110013B16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03204

Quality Score

Status

Chromosome

Chromosomal Location

106317250-106324877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106317834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 191 (F191I)

Ref Sequence

ENSEMBL: ENSMUSP00000140901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024031] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000187001] [ENSMUST00000187983] [ENSMUST00000215395] [ENSMUST00000190900] [ENSMUST00000216400] [ENSMUST00000190803] [ENSMUST00000190972] [ENSMUST00000190798] [ENSMUST00000214275] [ENSMUST00000215506]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024031

SMART Domains

Protein: ENSMUSP00000024031
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M28	61	239	8.6e-8	PFAM
Pfam:Peptidase_M20	76	397	1.8e-38	PFAM
Pfam:M20_dimer	188	302	1.4e-17	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048685
AA Change: F184I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: F184I

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171678
AA Change: F184I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: F184I

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171925
AA Change: F202I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: F202I

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Abhydrolase_5	73	245	7.9e-17	PFAM
low complexity region	253	265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185334
AA Change: F184I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: F184I

Domain	Start	End	E-Value	Type
transmembrane domain	12	29	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	3.3e-10	PFAM
Pfam:Abhydrolase_5	73	227	8.1e-21	PFAM
Pfam:Abhydrolase_6	74	181	1e-14	PFAM
Pfam:Abhydrolase_6	176	238	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187001

SMART Domains

Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
SCOP:d1imja_	51	110	1e-10	SMART
PDB:1IMJ\|A	58	110	6e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187324

Predicted Effect

probably damaging
Transcript: ENSMUST00000187983
AA Change: F191I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: F191I

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Abhydrolase_5	73	203	5.4e-12	PFAM
Pfam:Abhydrolase_6	74	197	1.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189097

Predicted Effect

probably benign
Transcript: ENSMUST00000215395

Predicted Effect

probably benign
Transcript: ENSMUST00000190900

SMART Domains

Protein: ENSMUSP00000140582
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
PDB:1Q7L\|C	1	50	9e-23	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000216400

Predicted Effect

probably benign
Transcript: ENSMUST00000190803

Predicted Effect

probably benign
Transcript: ENSMUST00000190972

SMART Domains

Protein: ENSMUSP00000139953
Gene: ENSMUSG00000023262

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M20	76	216	2.9e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190851

Predicted Effect

probably benign
Transcript: ENSMUST00000190798

SMART Domains

Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:Hydrolase_4	55	142	1.7e-8	PFAM
Pfam:Abhydrolase_5	73	157	1.2e-8	PFAM
Pfam:Abhydrolase_6	74	157	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214275

Predicted Effect

probably benign
Transcript: ENSMUST00000215506

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actc1	A	T	2: 113,880,011 (GRCm39)	S201T	possibly damaging	Het
Ankrd36	T	A	11: 5,534,023 (GRCm39)	D291E	possibly damaging	Het
Bltp1	A	G	3: 37,105,083 (GRCm39)		probably benign	Het
Btbd7	T	A	12: 102,774,239 (GRCm39)	R510*	probably null	Het
Cfap20dc	A	G	14: 8,644,436 (GRCm38)	I80T	possibly damaging	Het
Eif4a3	A	T	11: 119,184,442 (GRCm39)	D249E	possibly damaging	Het
Elovl6	A	G	3: 129,426,993 (GRCm39)	M220V	probably benign	Het
Ets1	C	T	9: 32,644,308 (GRCm39)	S156L	possibly damaging	Het
Gja8	C	T	3: 96,827,408 (GRCm39)	V85I	probably damaging	Het
Glipr2	T	A	4: 43,970,507 (GRCm39)	D7E	probably benign	Het
Il22	C	T	10: 118,041,085 (GRCm39)		probably benign	Het
Itln1	A	G	1: 171,358,172 (GRCm39)	V80A	probably damaging	Het
Kdr	A	T	5: 76,133,042 (GRCm39)	C79S	possibly damaging	Het
Kif26a	A	T	12: 112,141,213 (GRCm39)	H672L	probably damaging	Het
Klhl40	A	T	9: 121,611,696 (GRCm39)	T570S	probably benign	Het
Macf1	A	G	4: 123,249,070 (GRCm39)		probably benign	Het
Magi3	T	A	3: 104,013,151 (GRCm39)	N112I	probably damaging	Het
Moxd2	T	C	6: 40,864,239 (GRCm39)	T64A	probably benign	Het
Myh4	T	C	11: 67,141,122 (GRCm39)	V728A	possibly damaging	Het
Or8u10	G	T	2: 85,916,015 (GRCm39)	Y35*	probably null	Het
Prkdc	A	G	16: 15,587,665 (GRCm39)	I2517V	probably benign	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Smg9	A	G	7: 24,120,337 (GRCm39)	E437G	probably benign	Het
Snx4	A	G	16: 33,090,039 (GRCm39)	K188R	probably benign	Het
Sox14	A	G	9: 99,757,110 (GRCm39)	S210P	probably benign	Het
Spata1	A	G	3: 146,194,434 (GRCm39)	F77L	probably benign	Het
Spata18	G	T	5: 73,828,449 (GRCm39)		probably benign	Het
Stard9	G	A	2: 120,536,283 (GRCm39)	D4151N	probably damaging	Het
Wdr59	T	C	8: 112,212,002 (GRCm39)	H356R	probably benign	Het
Zfp462	A	G	4: 55,080,785 (GRCm39)	D1380G	possibly damaging	Het

Other mutations in Abhd14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03051:Abhd14a	APN	9	106,321,128 (GRCm39)	missense	possibly damaging	0.49
R0050:Abhd14a	UTSW	9	106,318,082 (GRCm39)	unclassified	probably benign
R1937:Abhd14a	UTSW	9	106,317,446 (GRCm39)	unclassified	probably benign
R2129:Abhd14a	UTSW	9	106,318,064 (GRCm39)	missense	probably null
R5521:Abhd14a	UTSW	9	106,321,033 (GRCm39)	missense	probably damaging	1.00
R5850:Abhd14a	UTSW	9	106,317,548 (GRCm39)	missense	probably damaging	1.00
R5971:Abhd14a	UTSW	9	106,321,065 (GRCm39)	missense	possibly damaging	0.93
R5975:Abhd14a	UTSW	9	106,321,150 (GRCm39)	splice site	probably null
R6138:Abhd14a	UTSW	9	106,321,065 (GRCm39)	missense	possibly damaging	0.93
R6644:Abhd14a	UTSW	9	106,321,472 (GRCm39)	missense	probably damaging	0.98
R8171:Abhd14a	UTSW	9	106,317,960 (GRCm39)	missense	probably benign	0.10
U15987:Abhd14a	UTSW	9	106,321,065 (GRCm39)	missense	possibly damaging	0.93

Posted On

2016-08-02