Mutagenetix > Incidental Mutation

Incidental Mutation 'R2077:Abhd16b'

229203

Institutional Source

Beutler Lab

Gene Symbol

Abhd16b

Ensembl Gene

ENSMUSG00000055882

Gene Name

abhydrolase domain containing 16B

Synonyms

BC050777

MMRRC Submission

040082-MU

Accession Numbers

Essential gene?

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

Stock #

R2077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

181134999-181136773 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 181135209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 37 (D37A)

Ref Sequence

ENSEMBL: ENSMUSP00000066520 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000069649
AA Change: D37A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000066520
Gene: ENSMUSG00000055882
AA Change: D37A

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: ENSMUST00000184588

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

Meta Mutation Damage Score

0.1551

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

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
Aadacl3	T	A	4: 144,183,604 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,328,907 (GRCm39)	E91G	probably damaging	Het
Alms1	T	A	6: 85,599,291 (GRCm39)	N1841K	possibly damaging	Het
Arhgap25	T	A	6: 87,436,990 (GRCm39)	D620V	probably damaging	Het
Caps2	C	T	10: 112,035,632 (GRCm39)	T371I	possibly damaging	Het
Ccdc175	A	G	12: 72,186,794 (GRCm39)	I350T	possibly damaging	Het
Cdc25c	G	C	18: 34,871,292 (GRCm39)	L275V	probably damaging	Het
Cdc42bpb	A	G	12: 111,265,630 (GRCm39)	L1434P	probably damaging	Het
Cdkl3	A	T	11: 51,917,666 (GRCm39)	E321V	probably damaging	Het
Clec2d	G	T	6: 129,160,153 (GRCm39)	V56L	possibly damaging	Het
Cops3	A	T	11: 59,715,136 (GRCm39)	S301T	possibly damaging	Het
Crygd	T	C	1: 65,102,405 (GRCm39)	D19G	probably damaging	Het
Dnah2	T	C	11: 69,387,432 (GRCm39)	I931M	possibly damaging	Het
Dst	A	T	1: 34,250,251 (GRCm39)	R4068S	probably damaging	Het
Fas	C	T	19: 34,297,953 (GRCm39)		probably benign	Het
G6pd2	T	A	5: 61,967,594 (GRCm39)	D456E	probably damaging	Het
Galnt18	G	A	7: 111,153,809 (GRCm39)	R272W	probably damaging	Het
Grb2	C	A	11: 115,536,651 (GRCm39)	G200W	probably damaging	Het
Herc4	A	G	10: 63,099,832 (GRCm39)	N85S	probably benign	Het
Ighv7-2	T	C	12: 113,875,727 (GRCm39)	D92G	probably damaging	Het
Itih3	A	G	14: 30,631,792 (GRCm39)	V765A	possibly damaging	Het
Itm2b	T	C	14: 73,600,560 (GRCm39)	N247D	probably benign	Het
Kcnd3	T	C	3: 105,574,315 (GRCm39)	V500A	probably benign	Het
Lrp2	C	T	2: 69,338,187 (GRCm39)	G1198R	probably damaging	Het
Ltb4r2	A	G	14: 55,999,444 (GRCm39)	T22A	probably damaging	Het
Mdga2	A	G	12: 66,702,136 (GRCm39)	V355A	probably damaging	Het
Megf8	T	A	7: 25,053,163 (GRCm39)	V1778E	probably benign	Het
Mroh2b	G	A	15: 4,974,448 (GRCm39)	E1143K	probably damaging	Het
Nbn	A	T	4: 15,979,389 (GRCm39)	Y458F	probably damaging	Het
Nlrc3	A	G	16: 3,781,856 (GRCm39)	C534R	probably benign	Het
Nup155	A	G	15: 8,172,510 (GRCm39)	E832G	probably damaging	Het
Or5w11	A	G	2: 87,459,173 (GRCm39)	Y122C	probably damaging	Het
Plcl2	A	G	17: 50,913,857 (GRCm39)	T289A	probably benign	Het
Ptprs	C	T	17: 56,741,990 (GRCm39)	R7Q	probably null	Het
Rab3ip	A	T	10: 116,754,865 (GRCm39)	D198E	possibly damaging	Het
Scaf4	A	T	16: 90,049,323 (GRCm39)	F255I	unknown	Het
Senp6	T	C	9: 80,033,437 (GRCm39)	S475P	probably benign	Het
Shpk	T	C	11: 73,094,785 (GRCm39)	L67P	probably damaging	Het
Sik3	T	A	9: 46,130,801 (GRCm39)	Y1246N	probably damaging	Het
Slc44a2	A	G	9: 21,265,020 (GRCm39)	Y686C	probably damaging	Het
Slc6a19	A	G	13: 73,848,685 (GRCm39)	V23A	probably benign	Het
Slit3	A	T	11: 35,435,575 (GRCm39)	I169F	possibly damaging	Het
Stxbp5l	A	G	16: 37,056,637 (GRCm39)	V379A	possibly damaging	Het
Tex2	T	C	11: 106,397,690 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,586,143 (GRCm39)	V149A	possibly damaging	Het
Vmn1r158	T	A	7: 22,489,815 (GRCm39)	R131S	probably benign	Het
Vmn2r24	T	A	6: 123,792,358 (GRCm39)	C562S	probably damaging	Het
Wipi1	T	C	11: 109,468,490 (GRCm39)	N368S	probably benign	Het
Zbtb41	T	C	1: 139,351,831 (GRCm39)	S315P	probably damaging	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
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
R5781:Abhd16b	UTSW	2	181,135,947 (GRCm39)	missense	probably damaging	1.00
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'- ATCTCCAGCTGTCATTTCACAACTAG -3'
(R):5'- AGAACCGGGGTATACAAGCC -3'

Sequencing Primer
(F):5'- TTTCACAACTAGGACTGGGC -3'
(R):5'- GCCAGTGCATAGCTAGCAAGC -3'

Posted On

2014-09-17