Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02065:Abhd17a'

185614

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abhd17a

Ensembl Gene

ENSMUSG00000003346

Gene Name

abhydrolase domain containing 17A

Synonyms

D10Bwg1364e, Fam108a, 1700013O15Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02065

Quality Score

Status

Chromosome

Chromosomal Location

80419488-80426175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80422395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 22 (A22S)

Ref Sequence

ENSEMBL: ENSMUSP00000141177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003436] [ENSMUST00000187646] [ENSMUST00000189605] [ENSMUST00000191440]

AlphaFold

Q99JW1

Predicted Effect

probably benign
Transcript: ENSMUST00000003436
AA Change: A96S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003436
Gene: ENSMUSG00000003346
AA Change: A96S

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	39	55	N/A	INTRINSIC
Pfam:Hydrolase_4	108	229	7e-10	PFAM
Pfam:Abhydrolase_5	113	285	7e-31	PFAM
Pfam:DLH	151	285	8e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187366

Predicted Effect

probably benign
Transcript: ENSMUST00000187646

SMART Domains

Protein: ENSMUSP00000140424
Gene: ENSMUSG00000003346

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	39	55	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189605
AA Change: A22S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141177
Gene: ENSMUSG00000003346
AA Change: A22S

Domain	Start	End	E-Value	Type
low complexity region	70	81	N/A	INTRINSIC
Pfam:Abhydrolase_5	92	151	8.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000191440
AA Change: A96S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139766
Gene: ENSMUSG00000003346
AA Change: A96S

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	39	55	N/A	INTRINSIC
Pfam:Abhydrolase_5	113	232	4.9e-14	PFAM
Pfam:Abhydrolase_6	114	228	4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,827 (GRCm39)	E770K	possibly damaging	Het
Actbl2	A	G	13: 111,392,225 (GRCm39)	T187A	probably benign	Het
Adgrl3	G	A	5: 81,660,064 (GRCm39)	G278R	probably damaging	Het
Apoh	C	A	11: 108,305,131 (GRCm39)		probably benign	Het
Atp2b2	A	G	6: 113,790,828 (GRCm39)	F192S	probably damaging	Het
Bdh1	T	C	16: 31,268,754 (GRCm39)	I163T	possibly damaging	Het
Bmp1	G	T	14: 70,723,660 (GRCm39)	N725K	probably damaging	Het
Bmp1	T	A	14: 70,727,547 (GRCm39)	I679F	probably damaging	Het
Bmp2	T	A	2: 133,402,844 (GRCm39)	F132I	probably benign	Het
Bpifb5	T	C	2: 154,069,103 (GRCm39)	L140P	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Carmil3	T	C	14: 55,731,279 (GRCm39)		probably benign	Het
Ccdc57	T	C	11: 120,764,586 (GRCm39)	T730A	possibly damaging	Het
Cdh10	G	T	15: 19,013,342 (GRCm39)	K647N	probably damaging	Het
Cdh17	A	C	4: 11,771,373 (GRCm39)		probably benign	Het
Cep126	A	G	9: 8,099,925 (GRCm39)	S870P	probably benign	Het
Col6a4	T	C	9: 105,954,302 (GRCm39)	T346A	probably damaging	Het
Csmd3	A	C	15: 47,530,024 (GRCm39)	V2592G	probably damaging	Het
Dnajc16	A	T	4: 141,504,244 (GRCm39)	F239I	probably damaging	Het
Entrep3	C	T	3: 89,095,903 (GRCm39)	R545*	probably null	Het
F5	G	A	1: 164,017,695 (GRCm39)	V591M	probably damaging	Het
Fchsd2	T	G	7: 100,826,429 (GRCm39)		probably null	Het
Flad1	A	T	3: 89,316,294 (GRCm39)	D89E	probably damaging	Het
Fsd1	C	A	17: 56,303,499 (GRCm39)	P457Q	probably damaging	Het
Gm21985	A	G	2: 112,187,929 (GRCm39)	D1012G	possibly damaging	Het
Gon4l	A	G	3: 88,764,517 (GRCm39)	D366G	probably null	Het
Hadha	A	G	5: 30,347,843 (GRCm39)		probably benign	Het
Kdr	A	G	5: 76,122,513 (GRCm39)		probably benign	Het
Kyat3	A	G	3: 142,426,136 (GRCm39)	K24R	probably benign	Het
Map3k21	A	G	8: 126,668,397 (GRCm39)	D661G	probably benign	Het
Mical1	A	T	10: 41,360,407 (GRCm39)	K615N	possibly damaging	Het
Ncor1	T	C	11: 62,310,435 (GRCm39)	K204E	possibly damaging	Het
Nmral1	T	A	16: 4,534,346 (GRCm39)	I32F	probably benign	Het
Nrros	T	C	16: 31,963,492 (GRCm39)	D175G	possibly damaging	Het
Or10ak8	G	A	4: 118,773,968 (GRCm39)	T232I	probably benign	Het
Or12j5	T	C	7: 140,084,077 (GRCm39)	I98M	probably benign	Het
Ryr2	A	G	13: 11,587,143 (GRCm39)	F4713L	possibly damaging	Het
Serpinb1b	G	A	13: 33,275,301 (GRCm39)	G142D	possibly damaging	Het
Slc10a1	A	G	12: 81,007,248 (GRCm39)	S178P	possibly damaging	Het
Spint1	G	A	2: 119,068,698 (GRCm39)	R144H	probably benign	Het
Sult6b1	C	T	17: 79,196,504 (GRCm39)	G213R	probably damaging	Het
Themis3	G	T	17: 66,862,900 (GRCm39)	H353N	probably benign	Het
Tpr	T	C	1: 150,289,525 (GRCm39)	S619P	probably benign	Het
Ttn	A	T	2: 76,645,134 (GRCm39)	V11161E	probably damaging	Het
Usp13	G	A	3: 32,987,314 (GRCm39)	V837I	probably damaging	Het
Usp25	T	C	16: 76,880,670 (GRCm39)	V677A	probably benign	Het
Wdr62	A	G	7: 29,942,894 (GRCm39)	V1001A	possibly damaging	Het
Whrn	A	T	4: 63,336,822 (GRCm39)	I580N	possibly damaging	Het
Wls	T	A	3: 159,616,993 (GRCm39)	V344D	probably damaging	Het
Zan	A	T	5: 137,385,222 (GRCm39)	Y5070*	probably null	Het

Other mutations in Abhd17a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03036:Abhd17a	APN	10	80,421,534 (GRCm39)	nonsense	probably null
R1169:Abhd17a	UTSW	10	80,419,781 (GRCm39)	missense	probably damaging	1.00
R1497:Abhd17a	UTSW	10	80,420,164 (GRCm39)	splice site	probably benign
R1783:Abhd17a	UTSW	10	80,419,860 (GRCm39)	missense	probably benign	0.02
R1819:Abhd17a	UTSW	10	80,422,470 (GRCm39)	missense	probably benign
R2049:Abhd17a	UTSW	10	80,421,440 (GRCm39)	critical splice donor site	probably null
R4326:Abhd17a	UTSW	10	80,419,884 (GRCm39)	missense	probably benign	0.01
R5385:Abhd17a	UTSW	10	80,421,446 (GRCm39)	missense	probably benign	0.20
R6751:Abhd17a	UTSW	10	80,422,421 (GRCm39)	missense	probably damaging	0.98
R7219:Abhd17a	UTSW	10	80,420,008 (GRCm39)	nonsense	probably null
R7343:Abhd17a	UTSW	10	80,419,991 (GRCm39)	missense	possibly damaging	0.89
R7552:Abhd17a	UTSW	10	80,419,737 (GRCm39)	missense	probably benign	0.00
R8997:Abhd17a	UTSW	10	80,422,470 (GRCm39)	missense	probably benign
R9162:Abhd17a	UTSW	10	80,422,577 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07