Mutagenetix > Incidental Mutation

Incidental Mutation 'R5975:Abhd14a'

471696

Institutional Source

Beutler Lab

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 #

R5975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106317250-106324877 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 106321150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141096 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000048685

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000048685

SMART Domains

Protein: ENSMUSP00000047322
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000171678

SMART Domains

Protein: ENSMUSP00000126101
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000171925

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000171925

SMART Domains

Protein: ENSMUSP00000126916
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000185334

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000185334

SMART Domains

Protein: ENSMUSP00000140345
Gene: ENSMUSG00000042210

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 null
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

probably null
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

probably null
Transcript: ENSMUST00000187983

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210

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 null
Transcript: ENSMUST00000187983

SMART Domains

Protein: ENSMUSP00000140901
Gene: ENSMUSG00000042210

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000187798

Predicted Effect

probably benign
Transcript: ENSMUST00000216130

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: 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: 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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	T	C	7: 136,989,021 (GRCm39)		probably benign	Het
Actn2	T	C	13: 12,355,378 (GRCm39)	N2D	probably benign	Het
Adcy9	T	C	16: 4,129,431 (GRCm39)	E722G	probably damaging	Het
Alox12	C	A	11: 70,133,609 (GRCm39)	V572L	possibly damaging	Het
Ankrd11	T	C	8: 123,616,488 (GRCm39)	I2434V	possibly damaging	Het
Anks1	T	A	17: 28,210,421 (GRCm39)		probably null	Het
Bltp1	C	T	3: 37,023,370 (GRCm39)	T2233I	possibly damaging	Het
Bpifa3	T	A	2: 153,978,241 (GRCm39)	S148T	probably damaging	Het
Bptf	C	T	11: 106,926,690 (GRCm39)		probably benign	Het
Cabin1	A	T	10: 75,493,673 (GRCm39)	L1655H	probably damaging	Het
Ccdc13	G	T	9: 121,656,301 (GRCm39)	Q171K	probably benign	Het
Ccdc33	T	A	9: 58,024,761 (GRCm39)	Q155L	possibly damaging	Het
Cckbr	G	A	7: 105,119,826 (GRCm39)	G280E	probably benign	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Celsr1	G	T	15: 85,803,239 (GRCm39)		probably null	Het
Cenpj	A	T	14: 56,801,523 (GRCm39)	I150N	possibly damaging	Het
Cep135	C	A	5: 76,788,737 (GRCm39)	A1110E	possibly damaging	Het
Chit1	C	A	1: 134,074,364 (GRCm39)	H224N	probably damaging	Het
Cul5	T	C	9: 53,534,093 (GRCm39)	R680G	probably damaging	Het
Dhx58	C	A	11: 100,593,035 (GRCm39)	R224L	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dnah5	A	C	15: 28,234,428 (GRCm39)	D279A	probably damaging	Het
Dnai4	G	A	4: 102,906,786 (GRCm39)	P676S	probably benign	Het
Efcab3	A	G	11: 104,578,375 (GRCm39)		probably benign	Het
Enpp3	A	G	10: 24,650,740 (GRCm39)	W799R	probably benign	Het
Ercc5	A	G	1: 44,212,566 (GRCm39)	T675A	probably benign	Het
Farsa	T	A	8: 85,591,061 (GRCm39)		probably null	Het
Fbxw15	A	T	9: 109,384,320 (GRCm39)	V397D	probably damaging	Het
Fcrl5	G	A	3: 87,349,410 (GRCm39)	V62I	probably benign	Het
Gart	A	G	16: 91,421,224 (GRCm39)	S815P	probably damaging	Het
Glrx5	A	G	12: 105,006,582 (GRCm39)	N111S	possibly damaging	Het
Gm10845	A	G	14: 80,100,614 (GRCm39)		noncoding transcript	Het
Gm9925	T	A	18: 74,198,587 (GRCm39)		probably benign	Het
Gsdme	T	C	6: 50,204,339 (GRCm39)	N206S	probably benign	Het
Helz2	T	C	2: 180,872,843 (GRCm39)	S2459G	probably benign	Het
Hnrnpul1	A	G	7: 25,453,784 (GRCm39)	S93P	possibly damaging	Het
Ints2	A	T	11: 86,117,574 (GRCm39)	I716N	possibly damaging	Het
Lmnb2	G	A	10: 80,740,962 (GRCm39)	Q248*	probably null	Het
Map3k7cl	A	G	16: 87,367,209 (GRCm39)	I32V	probably benign	Het
Mfsd4b4	A	T	10: 39,768,466 (GRCm39)	I255N	probably benign	Het
Myh6	A	G	14: 55,187,965 (GRCm39)	I1163T	probably benign	Het
Nphs1	A	T	7: 30,165,540 (GRCm39)	T636S	possibly damaging	Het
Ntsr1	T	A	2: 180,142,581 (GRCm39)	L124Q	probably damaging	Het
Obscn	C	T	11: 59,013,445 (GRCm39)		probably null	Het
P4ha2	G	A	11: 54,017,238 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,132,164 (GRCm39)	V411D	probably benign	Het
Pkhd1l1	A	T	15: 44,389,384 (GRCm39)	I1380F	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekhm1	A	T	11: 103,267,517 (GRCm39)	V818E	possibly damaging	Het
Pprc1	T	G	19: 46,053,809 (GRCm39)		probably benign	Het
Prb1c	A	G	6: 132,339,036 (GRCm39)	S61P	unknown	Het
Prmt9	T	C	8: 78,287,647 (GRCm39)		probably benign	Het
Rab26	T	C	17: 24,749,373 (GRCm39)	N193D	possibly damaging	Het
Rnf111	A	G	9: 70,336,862 (GRCm39)	S942P	probably damaging	Het
Scgb2b18	T	C	7: 32,872,650 (GRCm39)	T52A	probably damaging	Het
Syt3	C	T	7: 44,042,187 (GRCm39)	Q349*	probably null	Het
Tas2r107	T	C	6: 131,636,743 (GRCm39)	N102S	probably benign	Het
Tas2r126	T	A	6: 42,411,934 (GRCm39)	Y156N	possibly damaging	Het
Tcaf2	A	T	6: 42,619,712 (GRCm39)	I105N	probably benign	Het
Tet1	A	C	10: 62,715,552 (GRCm39)	M81R	probably benign	Het
Togaram2	T	C	17: 72,036,200 (GRCm39)	Y897H	probably damaging	Het
Trerf1	A	T	17: 47,625,197 (GRCm39)		noncoding transcript	Het
Ttn	G	A	2: 76,591,579 (GRCm39)	T12703I	probably damaging	Het
Unc79	A	G	12: 103,091,885 (GRCm39)	K1735E	possibly damaging	Het
Usp54	G	A	14: 20,633,419 (GRCm39)	T372I	possibly damaging	Het
Wdr24	T	C	17: 26,046,102 (GRCm39)	S476P	probably benign	Het
Zbtb1	T	C	12: 76,433,049 (GRCm39)	I345T	possibly damaging	Het
Zcrb1	T	A	15: 93,293,496 (GRCm39)	I29L	probably benign	Het
Zfp341	T	A	2: 154,472,361 (GRCm39)	C315S	probably damaging	Het
Zfp623	C	A	15: 75,820,012 (GRCm39)	R323S	probably benign	Het
Zfp831	T	A	2: 174,485,885 (GRCm39)	Y187N	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
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
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'- TTGAATGCAGGGGTACTCGC -3'
(R):5'- GAGGCCCTAATGTCACAGTC -3'

Sequencing Primer
(F):5'- CCTTTACCTTGAATGCAGGGGTAC -3'
(R):5'- GGCAACTCTCGAATCTTTTACCGAG -3'

Posted On

2017-03-31