Mutagenetix > Incidental Mutation

Incidental Mutation 'R9162:Abhd17a'

695792

Institutional Source

Beutler Lab

Gene Symbol

Abhd17a

Ensembl Gene

ENSMUSG00000003346

Gene Name

abhydrolase domain containing 17A

Synonyms

D10Bwg1364e, Fam108a, 1700013O15Rik

MMRRC Submission

068943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80419488-80426175 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80422577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 35 (Y35C)

Ref Sequence

ENSEMBL: ENSMUSP00000003436 (fasta)

Gene Model

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

AlphaFold

Q99JW1

Predicted Effect

probably damaging
Transcript: ENSMUST00000003436
AA Change: Y35C

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

SMART Domains

Protein: ENSMUSP00000003436
Gene: ENSMUSG00000003346
AA Change: Y35C

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

probably damaging
Transcript: ENSMUST00000187646
AA Change: Y35C

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

SMART Domains

Protein: ENSMUSP00000140424
Gene: ENSMUSG00000003346
AA Change: Y35C

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

SMART Domains

Protein: ENSMUSP00000141177
Gene: ENSMUSG00000003346

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 damaging
Transcript: ENSMUST00000191440
AA Change: Y35C

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

SMART Domains

Protein: ENSMUSP00000139766
Gene: ENSMUSG00000003346
AA Change: Y35C

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,611,732 (GRCm39)	D516G	probably damaging	Het
Abcd2	A	G	15: 91,058,926 (GRCm39)	M506T	probably benign	Het
Adamts12	A	G	15: 11,311,721 (GRCm39)	N1326S	probably benign	Het
Arhgef18	T	C	8: 3,414,645 (GRCm39)	Y8H	probably benign	Het
Arsi	T	C	18: 61,050,569 (GRCm39)	V484A	probably damaging	Het
Bsn	T	C	9: 107,987,883 (GRCm39)	D2623G	unknown	Het
Cul9	A	C	17: 46,837,529 (GRCm39)	D1005E	probably benign	Het
Dchs1	A	C	7: 105,414,732 (GRCm39)	V770G	probably damaging	Het
Dcst2	C	A	3: 89,274,088 (GRCm39)	S213*	probably null	Het
Dnah11	C	T	12: 117,991,251 (GRCm39)	E2372K	probably damaging	Het
Dysf	C	T	6: 84,089,215 (GRCm39)	T926I	probably damaging	Het
Ext1	G	A	15: 53,208,504 (GRCm39)	R86*	probably null	Het
Fat1	T	C	8: 45,404,352 (GRCm39)	F368L	probably damaging	Het
Flnc	T	C	6: 29,455,860 (GRCm39)	C2097R	probably damaging	Het
Git1	T	A	11: 77,396,331 (GRCm39)	I565N	probably benign	Het
Gpr22	A	G	12: 31,758,724 (GRCm39)	V466A	probably benign	Het
Hacd4	T	A	4: 88,338,017 (GRCm39)	T194S	probably benign	Het
Hectd4	A	G	5: 121,445,042 (GRCm39)	K93R	possibly damaging	Het
Kcnv1	T	C	15: 44,972,450 (GRCm39)	S478G	possibly damaging	Het
Kmt2a	T	C	9: 44,759,363 (GRCm39)	S829G	probably benign	Het
Lnp1	A	T	16: 56,737,844 (GRCm39)	H81Q	possibly damaging	Het
Lrp1	C	T	10: 127,441,368 (GRCm39)	A252T	probably benign	Het
Msl2	T	C	9: 100,978,928 (GRCm39)	V434A	probably benign	Het
Myo1g	T	A	11: 6,460,897 (GRCm39)	I716F	probably damaging	Het
Or52e19	A	T	7: 102,958,927 (GRCm39)		probably benign	Het
Or56a42-ps1	A	T	7: 104,777,454 (GRCm39)	Y53*	probably null	Het
Or5b12	A	T	19: 12,897,024 (GRCm39)	Y216*	probably null	Het
Or7e175	A	G	9: 20,040,457 (GRCm39)	I6V	probably benign	Het
Pappa	T	A	4: 65,123,040 (GRCm39)	S792T	probably damaging	Het
Pcdhb17	T	C	18: 37,620,168 (GRCm39)	S653P	probably damaging	Het
Plcd4	A	G	1: 74,601,362 (GRCm39)	K574R	probably benign	Het
Scyl3	C	A	1: 163,773,891 (GRCm39)	Q372K	probably benign	Het
Sgsm1	A	T	5: 113,430,577 (GRCm39)	D269E	probably damaging	Het
Siah2	C	A	3: 58,599,104 (GRCm39)	G45C	unknown	Het
Slc4a11	T	A	2: 130,534,214 (GRCm39)	D28V	possibly damaging	Het
Slco1a8	T	A	6: 141,939,453 (GRCm39)	E200V	probably damaging	Het
Socs4	T	A	14: 47,528,301 (GRCm39)	M412K	probably damaging	Het
Spata31e1	T	G	13: 49,939,310 (GRCm39)	Q800P	possibly damaging	Het
Spef2	T	G	15: 9,602,017 (GRCm39)	N1415T	unknown	Het
Stat6	A	G	10: 127,487,089 (GRCm39)	K199E	probably damaging	Het
Syndig1l	A	G	12: 84,727,291 (GRCm39)	F91S	probably damaging	Het
Tank	C	A	2: 61,480,432 (GRCm39)	Q324K	possibly damaging	Het
Tars3	G	A	7: 65,332,518 (GRCm39)	E540K	probably benign	Het
Tial1	A	G	7: 128,050,415 (GRCm39)	V70A	possibly damaging	Het
Tmem87b	C	T	2: 128,681,150 (GRCm39)	T358I	probably benign	Het
Ttyh3	G	A	5: 140,621,820 (GRCm39)	A42V	possibly damaging	Het
Xrn1	T	C	9: 95,915,660 (GRCm39)	I1261T	probably benign	Het
Zfp229	T	C	17: 21,964,495 (GRCm39)	S242P	probably damaging	Het
Zmym2	T	A	14: 57,163,361 (GRCm39)	C638S	probably benign	Het

Other mutations in Abhd17a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02065:Abhd17a	APN	10	80,422,395 (GRCm39)	missense	probably benign	0.00
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

Predicted Primers

PCR Primer
(F):5'- GCACATACATGCAGGCGATG -3'
(R):5'- CACTGTATGGCATGGAGACCTG -3'

Sequencing Primer
(F):5'- CAGGCGATGCGGTTGGC -3'
(R):5'- TCCTAACGGGACTGAGGTG -3'

Posted On

2022-02-07