Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03051:Abhd14a'

409052

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 #

IGL03051

Quality Score

Status

Chromosome

Chromosomal Location

106317250-106324877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106321128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 76 (F76I)

Ref Sequence

ENSEMBL: ENSMUSP00000140345 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000185527] [ENSMUST00000187983] [ENSMUST00000190798] [ENSMUST00000187001] [ENSMUST00000190167] [ENSMUST00000216130] [ENSMUST00000187106] [ENSMUST00000215475] [ENSMUST00000217496] [ENSMUST00000186361]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048527

SMART Domains

Protein: ENSMUSP00000038755
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	189	7.9e-18	PFAM
Pfam:Abhydrolase_6	35	141	2.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048685
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: F76I

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

possibly damaging
Transcript: ENSMUST00000171678
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: F76I

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: ENSMUST00000171925
AA Change: F76I

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: F76I

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

possibly damaging
Transcript: ENSMUST00000185334
AA Change: F76I

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: F76I

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: ENSMUST00000185347

SMART Domains

Protein: ENSMUSP00000140279
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	183	7.6e-15	PFAM
Pfam:Abhydrolase_6	35	145	4.4e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185527

SMART Domains

Protein: ENSMUSP00000139760
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	174	3.3e-14	PFAM
Pfam:Abhydrolase_6	35	144	3.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187983
AA Change: F76I

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: F76I

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

probably benign
Transcript: ENSMUST00000190798
AA Change: F76I

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
AA Change: F76I

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: ENSMUST00000187001
AA Change: F76I

PolyPhen 2 Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
AA Change: F76I

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: ENSMUST00000187798

Predicted Effect

probably benign
Transcript: ENSMUST00000190167

SMART Domains

Protein: ENSMUSP00000140655
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	149	1.4e-9	PFAM
Pfam:Abhydrolase_6	35	147	1.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000216130

Predicted Effect

probably benign
Transcript: ENSMUST00000187106

SMART Domains

Protein: ENSMUSP00000139597
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	142	2.5e-9	PFAM
Pfam:Abhydrolase_6	35	141	1.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000215475

Predicted Effect

probably benign
Transcript: ENSMUST00000217496

Predicted Effect

probably benign
Transcript: ENSMUST00000186361

SMART Domains

Protein: ENSMUSP00000141151
Gene: ENSMUSG00000042073

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_5	34	189	1.5e-17	PFAM
Pfam:Abhydrolase_6	35	145	5.1e-15	PFAM
Pfam:Abhydrolase_6	141	194	1.5e-5	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	G	T	6: 86,964,283 (GRCm39)		probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Akap13	T	A	7: 75,260,233 (GRCm39)	C149*	probably null	Het
Appbp2	A	T	11: 85,082,565 (GRCm39)	D555E	possibly damaging	Het
Arhgap25	T	C	6: 87,472,896 (GRCm39)	Q87R	probably null	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
Ccn4	T	A	15: 66,778,399 (GRCm39)	C73*	probably null	Het
Ces5a	C	A	8: 94,255,226 (GRCm39)	G156C	probably damaging	Het
Chtf18	G	A	17: 25,939,938 (GRCm39)	R723W	probably damaging	Het
Clec4e	A	G	6: 123,266,692 (GRCm39)	S6P	probably benign	Het
Dennd4a	A	G	9: 64,769,696 (GRCm39)	I468V	probably damaging	Het
Epb41l4a	A	T	18: 34,007,825 (GRCm39)	Y233N	probably damaging	Het
Fam210b	C	T	2: 172,194,612 (GRCm39)	H155Y	probably benign	Het
Frmd4b	A	T	6: 97,272,943 (GRCm39)	C770*	probably null	Het
Gpa33	A	G	1: 165,992,790 (GRCm39)	H301R	probably benign	Het
Gpr39	T	A	1: 125,605,485 (GRCm39)	C138S	probably damaging	Het
Gtf2i	T	A	5: 134,271,768 (GRCm39)	K858*	probably null	Het
Ighv7-1	A	T	12: 113,860,576 (GRCm39)		probably benign	Het
Iglv1	T	C	16: 18,903,973 (GRCm39)	T49A	possibly damaging	Het
Kif17	A	C	4: 138,016,565 (GRCm39)	D416A	probably damaging	Het
Mib2	T	C	4: 155,741,747 (GRCm39)	T431A	probably damaging	Het
Mpz	G	A	1: 170,986,380 (GRCm39)	R98H	probably damaging	Het
Naa16	T	C	14: 79,606,522 (GRCm39)	E337G	probably benign	Het
Odam	G	A	5: 88,040,335 (GRCm39)		probably benign	Het
Or1e1f	T	A	11: 73,855,860 (GRCm39)	L142H	probably benign	Het
Parp2	T	C	14: 51,056,805 (GRCm39)		probably benign	Het
Pcdh7	T	G	5: 58,286,415 (GRCm39)	S1164A	probably damaging	Het
Pkp4	G	T	2: 59,142,106 (GRCm39)	A470S	probably benign	Het
Plin4	A	T	17: 56,412,417 (GRCm39)	M538K	possibly damaging	Het
Prex2	T	C	1: 11,212,889 (GRCm39)	V624A	probably damaging	Het
Rps6ka5	A	C	12: 100,582,250 (GRCm39)		probably null	Het
Simc1	T	C	13: 54,674,036 (GRCm39)	S795P	probably benign	Het
Slc35b4	A	T	6: 34,137,406 (GRCm39)		probably null	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Syt14	T	C	1: 192,615,528 (GRCm39)	N486S	probably benign	Het
Trim59	T	C	3: 68,944,206 (GRCm39)	N378S	probably benign	Het
Wdr17	T	A	8: 55,104,349 (GRCm39)	D908V	probably damaging	Het
Wdr74	A	G	19: 8,716,875 (GRCm39)		probably benign	Het

Other mutations in Abhd14a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03204:Abhd14a	APN	9	106,317,834 (GRCm39)	missense	probably damaging	0.99
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