Mutagenetix > Incidental Mutation

Incidental Mutation 'R5971:Abhd14a'

470847

Institutional Source

Beutler Lab

Gene Symbol

Abhd14a

Ensembl Gene

ENSMUSG00000042210

Gene Name

abhydrolase domain containing 14A

Synonyms

Dorz1, 1110013B16Rik

MMRRC Submission

044154-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5971 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106317250-106324877 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106321065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 97 (S97T)

Ref Sequence

ENSEMBL: ENSMUSP00000140042 (fasta)

Gene Model

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

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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210
AA Change: S97T

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

noncoding transcript
Transcript: ENSMUST00000187798

Predicted Effect

possibly damaging
Transcript: ENSMUST00000187001
AA Change: S97T

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140042
Gene: ENSMUSG00000042210
AA Change: S97T

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

probably benign
Transcript: ENSMUST00000187983
AA Change: S97T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210
AA Change: S97T

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: S97T

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141096
Gene: ENSMUSG00000042210
AA Change: S97T

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: 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: ENSMUST00000215475

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000216130

Predicted Effect

probably benign
Transcript: ENSMUST00000217496

Meta Mutation Damage Score

0.1180

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

87% (27/31)

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
5031439G07Rik	G	T	15: 84,871,863 (GRCm39)	A4D	possibly damaging	Het
6820408C15Rik	T	C	2: 152,282,790 (GRCm39)	V215A	probably damaging	Het
Abcc9	A	G	6: 142,585,301 (GRCm39)	F801S	probably damaging	Het
Adam39	C	T	8: 41,277,630 (GRCm39)	A7V	probably benign	Het
Anxa10	C	A	8: 62,530,960 (GRCm39)	M83I	probably benign	Het
Ctnna1	T	C	18: 35,287,567 (GRCm39)	V92A	probably benign	Het
Gcg	A	G	2: 62,306,148 (GRCm39)	S150P	probably damaging	Het
Kitl	G	A	10: 99,912,768 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Msl1	G	T	11: 98,689,519 (GRCm39)	G9C	probably benign	Het
Myo3b	T	C	2: 70,069,243 (GRCm39)	V494A	possibly damaging	Het
Or1ak2	G	A	2: 36,827,241 (GRCm39)	V37I	probably benign	Het
Pik3c2b	G	A	1: 133,002,365 (GRCm39)		probably null	Het
Plagl1	G	A	10: 13,003,490 (GRCm39)	G253R	probably damaging	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Ppp4r1	G	A	17: 66,121,343 (GRCm39)	V268I	possibly damaging	Het
Slc13a1	T	C	6: 24,133,656 (GRCm39)	T199A	probably benign	Het
Spmap2	A	G	10: 79,420,589 (GRCm39)	S159P	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACCTGCCACTGGTTTTG -3'
(R):5'- TCAAGGGCTTAATGGAGGGACC -3'

Sequencing Primer
(F):5'- GCCCTCTCTAACCTTGAA -3'
(R):5'- CTTAATGGAGGGACCTCAGTC -3'

Posted On

2017-03-31