Mutagenetix > Incidental Mutation

Incidental Mutation 'R2896:Abhd14b'

260798

Institutional Source

Beutler Lab

Gene Symbol

Abhd14b

Ensembl Gene

ENSMUSG00000042073

Gene Name

abhydrolase domain containing 14b

Synonyms

1810013B01Rik

MMRRC Submission

040484-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R2896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106324936-106330122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106327313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 32 (R32C)

Ref Sequence

ENSEMBL: ENSMUSP00000150885 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024260] [ENSMUST00000048527] [ENSMUST00000048685] [ENSMUST00000171678] [ENSMUST00000171925] [ENSMUST00000185334] [ENSMUST00000185347] [ENSMUST00000185527] [ENSMUST00000186361] [ENSMUST00000187106] [ENSMUST00000190167] [ENSMUST00000213179] [ENSMUST00000214252] [ENSMUST00000187001] [ENSMUST00000185874] [ENSMUST00000190798] [ENSMUST00000185779] [ENSMUST00000216130] [ENSMUST00000215475] [ENSMUST00000217496] [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 benign
Transcript: ENSMUST00000048527
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000038755
Gene: ENSMUSG00000042073
AA Change: R32C

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 benign
Transcript: ENSMUST00000185347
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140279
Gene: ENSMUSG00000042073
AA Change: R32C

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
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000139760
Gene: ENSMUSG00000042073
AA Change: R32C

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: ENSMUST00000186361
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000141151
Gene: ENSMUSG00000042073
AA Change: R32C

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
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000139597
Gene: ENSMUSG00000042073
AA Change: R32C

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
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000140655
Gene: ENSMUSG00000042073
AA Change: R32C

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

noncoding transcript
Transcript: ENSMUST00000186713

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185854

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186519

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187975

Predicted Effect

probably benign
Transcript: ENSMUST00000213179
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000214252

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: 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 benign
Transcript: ENSMUST00000216130
AA Change: R32C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

probably benign
Transcript: ENSMUST00000215475

Predicted Effect

probably benign
Transcript: ENSMUST00000217496

Predicted Effect

probably benign
Transcript: ENSMUST00000216379

Predicted Effect

probably benign
Transcript: ENSMUST00000215656

Meta Mutation Damage Score

0.0908

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bpifb4	T	G	2: 153,796,357 (GRCm39)		probably benign	Het
Cachd1	T	A	4: 100,828,100 (GRCm39)	L616Q	probably damaging	Het
Cmklr2	T	A	1: 63,222,321 (GRCm39)	I305L	probably benign	Het
Crebbp	A	G	16: 3,956,680 (GRCm39)	L381P	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Esp6	T	A	17: 40,873,834 (GRCm39)	M7K	possibly damaging	Het
Fam83d	G	A	2: 158,627,898 (GRCm39)	R529Q	probably damaging	Het
Gm26526	T	G	7: 39,238,437 (GRCm39)		noncoding transcript	Het
Gm8374	T	A	14: 18,537,084 (GRCm39)	R47*	probably null	Het
Gss	A	G	2: 155,406,749 (GRCm39)	L342P	probably damaging	Het
Ighv1-67	T	A	12: 115,567,595 (GRCm39)	T106S	probably damaging	Het
Kif21b	T	C	1: 136,081,955 (GRCm39)	Y668H	possibly damaging	Het
Lcmt1	A	G	7: 123,020,809 (GRCm39)	R245G	possibly damaging	Het
Lpar6	A	G	14: 73,476,716 (GRCm39)	K226E	probably damaging	Het
Or11h23	T	C	14: 50,947,973 (GRCm39)	F62S	probably damaging	Het
Pcdh19	TGTCTCCTCCACGTC	TGTC	X: 132,582,058 (GRCm39)		probably null	Het
Pdcl	A	T	2: 37,245,702 (GRCm39)	D100E	possibly damaging	Het
Phkg1	C	A	5: 129,893,471 (GRCm39)	K326N	possibly damaging	Het
Ppp4r3c1	A	G	X: 88,976,005 (GRCm39)	M64T	possibly damaging	Het
Prss1	G	A	6: 41,440,639 (GRCm39)	W238*	probably null	Het
Rdh10	A	T	1: 16,176,329 (GRCm39)		probably null	Het
Ror1	T	C	4: 99,953,477 (GRCm39)	L21P	unknown	Het
Skint8	A	G	4: 111,807,333 (GRCm39)	I340V	probably null	Het
Spata18	T	C	5: 73,815,145 (GRCm39)	S85P	probably damaging	Het
Stard6	G	A	18: 70,609,459 (GRCm39)	V33I	probably benign	Het
Ttll3	G	T	6: 113,369,683 (GRCm39)	A76S	probably benign	Het
Ttll4	T	A	1: 74,724,517 (GRCm39)	H562Q	possibly damaging	Het
Ubn1	A	G	16: 4,873,083 (GRCm39)	H35R	possibly damaging	Het
Ubr4	A	G	4: 139,182,955 (GRCm39)		probably null	Het
Zfp456	T	C	13: 67,515,416 (GRCm39)	R97G	possibly damaging	Het

Other mutations in Abhd14b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1332:Abhd14b	UTSW	9	106,329,195 (GRCm39)	missense	probably damaging	1.00
R2895: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'- TTCAGATCCTCAAGGCCTGG -3'
(R):5'- AGATTGGCTAAATCCTTCCAGTC -3'

Sequencing Primer
(F):5'- GTGGACACCTAACTGCTCC -3'
(R):5'- GGCTAAATCCTTCCAGTCCTCCATC -3'

Posted On

2015-01-23