Mutagenetix > Incidental Mutation

Incidental Mutation 'R1332:Abhd14b'

156744

Institutional Source

Beutler Lab

Gene Symbol

Abhd14b

Ensembl Gene

ENSMUSG00000042073

Gene Name

abhydrolase domain containing 14b

Synonyms

1810013B01Rik

MMRRC Submission

039397-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.187) question?

Stock #

R1332 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

106324936-106330122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106329195 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 42 (I42F)

Ref Sequence

ENSEMBL: ENSMUSP00000150948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000186361] [ENSMUST00000185527] [ENSMUST00000190430] [ENSMUST00000187001] [ENSMUST00000187106] [ENSMUST00000190167] [ENSMUST00000185874] [ENSMUST00000190798] [ENSMUST00000185779] [ENSMUST00000217496] [ENSMUST00000213179] [ENSMUST00000215475] [ENSMUST00000216130] [ENSMUST00000214252] [ENSMUST00000216379] [ENSMUST00000215656]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024260

SMART Domains

Protein: ENSMUSP00000024260
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	4.15e-14	SMART
KH	100	171	1.47e-14	SMART
KH	240	310	3.24e-16	SMART
low complexity region	327	349	N/A	INTRINSIC
low complexity region	364	381	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000048527
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038755
Gene: ENSMUSG00000042073
AA Change: I156F

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 benign
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 benign
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 benign
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 benign
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 damaging
Transcript: ENSMUST00000185347
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140279
Gene: ENSMUSG00000042073
AA Change: I156F

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 damaging
Transcript: ENSMUST00000186361
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141151
Gene: ENSMUSG00000042073
AA Change: I156F

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 damaging
Transcript: ENSMUST00000185527
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139760
Gene: ENSMUSG00000042073
AA Change: I156F

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: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185831

Predicted Effect

probably benign
Transcript: ENSMUST00000190430

SMART Domains

Protein: ENSMUSP00000140485
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

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

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: 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: ENSMUST00000185874

SMART Domains

Protein: ENSMUSP00000141057
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART

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: ENSMUST00000185779

SMART Domains

Protein: ENSMUSP00000140629
Gene: ENSMUSG00000023495

Domain	Start	End	E-Value	Type
KH	16	84	2.6e-16	SMART
KH	100	171	9.3e-17	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000217496
AA Change: I42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000213179
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000215475
AA Change: I42F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000216130
AA Change: I156F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Meta Mutation Damage Score

0.8671

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.1%
20x: 93.0%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933415A04Rik	T	TNNNNNNNNNNNNNNNNNN	11: 43,478,256 (GRCm39)		probably benign	Het
Apbb1	A	T	7: 105,214,750 (GRCm39)	I498N	possibly damaging	Het
Asah2	A	G	19: 32,022,341 (GRCm39)	I231T	probably damaging	Het
Bid	C	T	6: 120,874,216 (GRCm39)	A110T	possibly damaging	Het
Caskin2	C	T	11: 115,694,171 (GRCm39)		probably benign	Het
Ccdc141	T	C	2: 76,844,784 (GRCm39)	T1428A	probably damaging	Het
Cd22	A	C	7: 30,569,912 (GRCm39)	W477G	possibly damaging	Het
Cox16	T	C	12: 81,519,064 (GRCm39)	D89G	probably damaging	Het
Dnah17	A	G	11: 117,934,041 (GRCm39)	I3511T	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,901 (GRCm39)	Y333N	probably damaging	Het
Eya2	T	C	2: 165,529,528 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,855,167 (GRCm39)	D1892G	probably benign	Het
Hlf	G	T	11: 90,231,679 (GRCm39)	S265*	probably null	Het
Immt	T	C	6: 71,823,256 (GRCm39)		probably benign	Het
Lair1	T	C	7: 4,013,595 (GRCm39)	E36G	possibly damaging	Het
Lrfn5	T	C	12: 61,904,314 (GRCm39)		probably benign	Het
Nos1ap	T	C	1: 170,177,001 (GRCm39)	N134S	probably damaging	Het
Ogfod1	T	C	8: 94,784,727 (GRCm39)	C344R	probably damaging	Het
Or6c212	A	G	10: 129,559,116 (GRCm39)	L99S	probably damaging	Het
Pkhd1l1	G	A	15: 44,368,943 (GRCm39)	V863I	probably damaging	Het
Pmfbp1	T	G	8: 110,256,898 (GRCm39)	I534S	probably damaging	Het
Prex2	A	G	1: 11,274,315 (GRCm39)	D1329G	probably damaging	Het
Rasal2	T	C	1: 157,003,391 (GRCm39)	T423A	probably benign	Het
Rif1	T	A	2: 51,968,326 (GRCm39)	W170R	probably benign	Het
Scarb2	C	T	5: 92,599,205 (GRCm39)		probably null	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Tlr3	A	C	8: 45,851,774 (GRCm39)	N374K	probably damaging	Het
Uck1	T	C	2: 32,149,666 (GRCm39)	D71G	probably damaging	Het
Vcan	C	T	13: 89,841,174 (GRCm39)	E497K	probably damaging	Het
Vmn2r86	G	A	10: 130,282,739 (GRCm39)	L626F	probably damaging	Het
Vmn2r89	A	G	14: 51,692,559 (GRCm39)	T121A	probably benign	Het
Wdr64	T	C	1: 175,622,706 (GRCm39)	S828P	possibly damaging	Het
Zfp334	A	T	2: 165,222,776 (GRCm39)	H422Q	probably damaging	Het

Other mutations in Abhd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2895:Abhd14b	UTSW	9	106,327,313 (GRCm39)	missense	probably benign	0.01
R2896:Abhd14b	UTSW	9	106,327,313 (GRCm39)	missense	probably benign	0.01
R7258:Abhd14b	UTSW	9	106,327,418 (GRCm39)	missense	probably benign	0.00
R7384:Abhd14b	UTSW	9	106,327,340 (GRCm39)	missense	probably benign
R7769:Abhd14b	UTSW	9	106,328,819 (GRCm39)	missense	probably damaging	1.00
R8337:Abhd14b	UTSW	9	106,327,240 (GRCm39)	missense	probably benign
R8431:Abhd14b	UTSW	9	106,328,612 (GRCm39)	missense	probably benign	0.43
R8922:Abhd14b	UTSW	9	106,328,835 (GRCm39)	critical splice donor site	probably null
R8992:Abhd14b	UTSW	9	106,328,817 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGATGGTATCTCAGGAGCAAGTCGG -3'
(R):5'- CAGGAAATCCAGCAGCCCCTTATG -3'

Sequencing Primer
(F):5'- GCCAATCCCTGTATAAGACTGTG -3'
(R):5'- CCCTTATGCCACTCATCAGG -3'

Posted On

2014-02-11