Mutagenetix > Incidental Mutation

Incidental Mutation 'R5781:Abhd16b'

447717

Institutional Source

Beutler Lab

Gene Symbol

Abhd16b

Ensembl Gene

ENSMUSG00000055882

Gene Name

abhydrolase domain containing 16B

Synonyms

BC050777

MMRRC Submission

043378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5781 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

181134999-181136773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 181135947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 283 (V283A)

Ref Sequence

ENSEMBL: ENSMUSP00000066520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000844] [ENSMUST00000069649] [ENSMUST00000069712] [ENSMUST00000108799] [ENSMUST00000108800] [ENSMUST00000149163] [ENSMUST00000184849] [ENSMUST00000184588]

AlphaFold

Q80YU0

Predicted Effect

probably benign
Transcript: ENSMUST00000000844

SMART Domains

Protein: ENSMUSP00000000844
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	199	6.2e-55	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069649
AA Change: V283A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: V283A

Domain	Start	End	E-Value	Type
Pfam:Abhydrolase_1	174	339	2.9e-11	PFAM
Pfam:Abhydrolase_5	174	341	2.1e-13	PFAM
Pfam:Hydrolase_4	180	308	5.1e-9	PFAM
low complexity region	345	357	N/A	INTRINSIC
low complexity region	435	452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000069712

SMART Domains

Protein: ENSMUSP00000068888
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	193	5.8e-57	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108799

SMART Domains

Protein: ENSMUSP00000104427
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	18	121	1.9e-38	PFAM
Pfam:TPD52	115	220	1.3e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108800

SMART Domains

Protein: ENSMUSP00000104428
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	27	179	2.9e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129390

Predicted Effect

probably benign
Transcript: ENSMUST00000149163

SMART Domains

Protein: ENSMUSP00000117690
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	28	213	5.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183956

Predicted Effect

probably benign
Transcript: ENSMUST00000184849

SMART Domains

Protein: ENSMUSP00000138837
Gene: ENSMUSG00000000827

Domain	Start	End	E-Value	Type
Pfam:TPD52	9	170	2.4e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184588

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 109,992,813 (GRCm39)	L1617P	probably damaging	Het
Adamts19	G	T	18: 58,971,040 (GRCm39)	R208L	possibly damaging	Het
Adamts4	T	C	1: 171,078,584 (GRCm39)	I56T	possibly damaging	Het
Alpk1	A	C	3: 127,473,684 (GRCm39)	V773G	possibly damaging	Het
Arhgap10	G	T	8: 78,177,336 (GRCm39)	Q100K	possibly damaging	Het
Arhgef18	T	A	8: 3,489,439 (GRCm39)		probably null	Het
Asb15	A	T	6: 24,564,377 (GRCm39)	H277L	probably benign	Het
Ascc3	T	A	10: 50,514,074 (GRCm39)	V291E	probably damaging	Het
Cnot6l	A	C	5: 96,234,024 (GRCm39)	V329G	probably benign	Het
Col14a1	A	G	15: 55,286,908 (GRCm39)	T910A	unknown	Het
Dhdds	G	A	4: 133,724,141 (GRCm39)	L58F	probably damaging	Het
Dsc2	A	G	18: 20,165,567 (GRCm39)	I846T	probably benign	Het
Evc	A	T	5: 37,483,914 (GRCm39)	S129T	probably damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fyco1	A	G	9: 123,623,898 (GRCm39)	V1377A	probably damaging	Het
Haus6	C	T	4: 86,519,500 (GRCm39)	A203T	possibly damaging	Het
Hkdc1	T	G	10: 62,253,712 (GRCm39)	D23A	probably damaging	Het
Hpdl	C	T	4: 116,677,775 (GRCm39)	V229M	probably damaging	Het
Hspa12a	T	C	19: 58,810,518 (GRCm39)	Y175C	probably damaging	Het
Hyal1	C	T	9: 107,454,866 (GRCm39)	P59S	probably damaging	Het
Itpr1	G	A	6: 108,487,699 (GRCm39)	C2374Y	probably benign	Het
Kmt2a	A	T	9: 44,759,139 (GRCm39)	Y114*	probably null	Het
Mc2r	A	T	18: 68,540,466 (GRCm39)	Y276N	possibly damaging	Het
Mc2r	A	T	18: 68,540,468 (GRCm39)	I275K	probably damaging	Het
Mlycd	A	G	8: 120,137,019 (GRCm39)	Y413C	probably damaging	Het
Mocs2	T	G	13: 114,957,455 (GRCm39)	S86R	probably damaging	Het
Msx2	C	A	13: 53,626,644 (GRCm39)	A35S	probably benign	Het
Or6c201	A	T	10: 128,969,016 (GRCm39)	L207H	probably damaging	Het
Pla2g4f	C	A	2: 120,135,504 (GRCm39)	S390I	probably damaging	Het
Plcl1	C	T	1: 55,735,148 (GRCm39)	A163V	possibly damaging	Het
Pnn	T	C	12: 59,118,605 (GRCm39)	V396A	probably damaging	Het
Rbmxl1	G	A	8: 79,232,270 (GRCm39)		probably benign	Het
Recql	G	T	6: 142,311,344 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,699,089 (GRCm39)	N1195K	probably benign	Het
Rfwd3	G	A	8: 111,999,716 (GRCm39)	T754M	probably benign	Het
Sctr	A	G	1: 119,959,350 (GRCm39)	T98A	probably damaging	Het
Sdk1	T	A	5: 141,921,803 (GRCm39)	D6E	probably benign	Het
Smpdl3a	T	A	10: 57,684,034 (GRCm39)	I264K	possibly damaging	Het
Spag6	A	G	2: 18,736,804 (GRCm39)	I154V	probably benign	Het
Tbc1d12	A	C	19: 38,871,127 (GRCm39)	T297P	probably benign	Het
Tgfb1	A	G	7: 25,396,385 (GRCm39)	D226G	probably benign	Het
Ubr3	G	T	2: 69,846,588 (GRCm39)		probably null	Het
Ubr4	T	C	4: 139,195,407 (GRCm39)	Y1210H	probably damaging	Het
Ubr5	T	C	15: 38,006,785 (GRCm39)	T1157A	probably benign	Het
Vmn2r120	T	G	17: 57,831,938 (GRCm39)	T284P	probably benign	Het
Vps13b	G	T	15: 35,794,181 (GRCm39)	A2286S	probably damaging	Het
Zcchc14	A	T	8: 122,331,332 (GRCm39)		probably benign	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het

Other mutations in Abhd16b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01651:Abhd16b	APN	2	181,136,531 (GRCm39)	unclassified	probably benign
IGL02237:Abhd16b	APN	2	181,135,350 (GRCm39)	missense	probably benign	0.00
IGL02457:Abhd16b	APN	2	181,136,127 (GRCm39)	missense	probably benign	0.00
PIT4486001:Abhd16b	UTSW	2	181,135,752 (GRCm39)	missense	probably benign	0.39
R1760:Abhd16b	UTSW	2	181,135,197 (GRCm39)	missense	probably damaging	1.00
R2077:Abhd16b	UTSW	2	181,135,209 (GRCm39)	missense	probably benign	0.44
R3124:Abhd16b	UTSW	2	181,136,319 (GRCm39)	missense	possibly damaging	0.70
R4779:Abhd16b	UTSW	2	181,135,253 (GRCm39)	missense	possibly damaging	0.59
R6220:Abhd16b	UTSW	2	181,135,578 (GRCm39)	missense	probably damaging	1.00
R6994:Abhd16b	UTSW	2	181,135,461 (GRCm39)	missense	possibly damaging	0.94
R7305:Abhd16b	UTSW	2	181,135,209 (GRCm39)	missense	possibly damaging	0.85
R7850:Abhd16b	UTSW	2	181,135,518 (GRCm39)	missense	not run
R8115:Abhd16b	UTSW	2	181,135,527 (GRCm39)	missense	possibly damaging	0.55
R8132:Abhd16b	UTSW	2	181,135,760 (GRCm39)	missense	probably damaging	1.00
R8214:Abhd16b	UTSW	2	181,135,983 (GRCm39)	missense	probably damaging	1.00
R8782:Abhd16b	UTSW	2	181,136,208 (GRCm39)	missense	probably benign
R8975:Abhd16b	UTSW	2	181,135,806 (GRCm39)	missense	probably benign	0.00
R9381:Abhd16b	UTSW	2	181,135,881 (GRCm39)	missense	probably damaging	1.00
R9560:Abhd16b	UTSW	2	181,135,103 (GRCm39)	missense	probably damaging	1.00
R9699:Abhd16b	UTSW	2	181,136,518 (GRCm39)	missense	probably benign
X0052:Abhd16b	UTSW	2	181,136,058 (GRCm39)	missense	probably damaging	1.00
X0066:Abhd16b	UTSW	2	181,135,506 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGTGGTCAAATATGCGCTGC -3'
(R):5'- TGTGCTGTAGAAGGCGCAAC -3'

Sequencing Primer
(F):5'- AAATATGCGCTGCACCGTTTG -3'
(R):5'- GCAGCTCATTGCCACGGTTAC -3'

Posted On

2016-12-15