Mutagenetix > Incidental Mutation

Incidental Mutation 'R2940:Haghl'

255158

Institutional Source

Beutler Lab

Gene Symbol

Haghl

Ensembl Gene

ENSMUSG00000061046

Gene Name

hydroxyacylglutathione hydrolase-like

Synonyms

1500017E18Rik, C330022E15Rik, 2810014I23Rik

MMRRC Submission

040517-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R2940 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25998817-26004560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26004060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000119647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002350] [ENSMUST00000077938] [ENSMUST00000095500] [ENSMUST00000133071] [ENSMUST00000134108] [ENSMUST00000150324] [ENSMUST00000145053] [ENSMUST00000140738] [ENSMUST00000138759]

AlphaFold

Q9DB32

Predicted Effect

probably benign
Transcript: ENSMUST00000002350

SMART Domains

Protein: ENSMUSP00000002350
Gene: ENSMUSG00000002280

Domain	Start	End	E-Value	Type
Pfam:Fe_hyd_lg_C	110	406	8.5e-95	PFAM
Fe_hyd_SSU	410	466	9.56e-17	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077938
AA Change: V8A

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
AA Change: V8A

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095500

SMART Domains

Protein: ENSMUSP00000093155
Gene: ENSMUSG00000071202

Domain	Start	End	E-Value	Type
Pfam:DUF4472	63	190	5.5e-23	PFAM
coiled coil region	364	408	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129917

Predicted Effect

probably benign
Transcript: ENSMUST00000133071

SMART Domains

Protein: ENSMUSP00000120885
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134108

SMART Domains

Protein: ENSMUSP00000117136
Gene: ENSMUSG00000002280

Domain	Start	End	E-Value	Type
Pfam:Fe_hyd_lg_C	110	422	4e-85	PFAM
Fe_hyd_SSU	426	482	9.56e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137587

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150324
AA Change: V8A

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
AA Change: V8A

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART
Pfam:HAGH_C	174	270	3.2e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145053
AA Change: V8A

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046
AA Change: V8A

Domain	Start	End	E-Value	Type
Pfam:Lactamase_B	7	113	3.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138100

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140738
AA Change: V8A

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046
AA Change: V8A

Domain	Start	End	E-Value	Type
Lactamase_B	11	173	7.63e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143248

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149645

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183975

Predicted Effect

probably benign
Transcript: ENSMUST00000138759

SMART Domains

Protein: ENSMUSP00000115538
Gene: ENSMUSG00000061046

Domain	Start	End	E-Value	Type
Lactamase_B	1	125	1.34e-11	SMART

Meta Mutation Damage Score

0.3021

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	G	13: 68,878,424 (GRCm39)	W405R	probably damaging	Het
Apc	G	A	18: 34,409,723 (GRCm39)	R221H	probably damaging	Het
Armcx6	A	T	X: 133,650,625 (GRCm39)	W69R	probably damaging	Het
Bltp1	A	G	3: 37,012,954 (GRCm39)	D1878G	probably damaging	Het
Carm1	C	A	9: 21,490,692 (GRCm39)		probably null	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cngb1	T	C	8: 95,978,735 (GRCm39)	I573V	probably benign	Het
Crybg2	A	G	4: 133,809,745 (GRCm39)	H1517R	possibly damaging	Het
Dixdc1	G	A	9: 50,622,259 (GRCm39)	A25V	probably damaging	Het
Dmap1	G	A	4: 117,533,202 (GRCm39)	T284M	possibly damaging	Het
Dock6	A	G	9: 21,750,496 (GRCm39)	F473L	possibly damaging	Het
Eif3a	T	C	19: 60,762,115 (GRCm39)	T487A	probably benign	Het
Faiml	A	G	9: 99,114,527 (GRCm39)	C121R	probably damaging	Het
Fam180a	A	T	6: 35,290,564 (GRCm39)	S140T	possibly damaging	Het
Fibcd1	T	C	2: 31,707,276 (GRCm39)	Y327C	probably damaging	Het
Igfbp1	A	G	11: 7,151,970 (GRCm39)	T258A	probably benign	Het
Isl1	T	C	13: 116,444,835 (GRCm39)	T65A	possibly damaging	Het
Khdrbs3	T	A	15: 68,921,239 (GRCm39)	D185E	probably damaging	Het
Klc1	C	T	12: 111,772,451 (GRCm39)	R157C	possibly damaging	Het
Lamc3	A	G	2: 31,830,714 (GRCm39)	S1484G	probably benign	Het
Lman1	G	T	18: 66,117,344 (GRCm39)	P466Q	possibly damaging	Het
Map3k4	C	T	17: 12,480,157 (GRCm39)	E682K	probably damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Nbea	C	G	3: 55,842,045 (GRCm39)	E1879Q	probably benign	Het
Or8b12i	C	A	9: 20,082,061 (GRCm39)	G269W	probably benign	Het
Or8g34	G	A	9: 39,373,226 (GRCm39)	M166I	probably benign	Het
Pigc	T	C	1: 161,798,239 (GRCm39)	Y74H	possibly damaging	Het
Plek	C	T	11: 16,942,887 (GRCm39)		probably null	Het
Pramel28	A	G	4: 143,693,247 (GRCm39)	V77A	probably benign	Het
Rasgrf1	C	T	9: 89,873,767 (GRCm39)	A692V	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rnf25	A	G	1: 74,635,047 (GRCm39)	V135A	possibly damaging	Het
Senp6	G	A	9: 80,051,124 (GRCm39)	A1134T	probably benign	Het
Sh3rf2	G	A	18: 42,244,505 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,122,757 (GRCm39)	D506G	probably damaging	Het
Slc13a1	T	A	6: 24,090,779 (GRCm39)	I547F	possibly damaging	Het
Slc26a6	G	A	9: 108,734,236 (GRCm39)	V206I	probably benign	Het
Smc1a	T	A	X: 150,816,695 (GRCm39)	Y516N	probably damaging	Het
Sorbs1	T	C	19: 40,362,015 (GRCm39)	D123G	probably damaging	Het
Tecta	A	T	9: 42,289,290 (GRCm39)	M425K	possibly damaging	Het
Trpv1	A	G	11: 73,145,675 (GRCm39)	K403R	probably damaging	Het
Ttc39d	A	G	17: 80,524,982 (GRCm39)	Y547C	probably damaging	Het
Tubb6	A	G	18: 67,534,994 (GRCm39)	N298D	probably damaging	Het
Xpo7	A	T	14: 70,904,576 (GRCm39)	L1020Q	probably damaging	Het
Xpo7	G	T	14: 70,904,577 (GRCm39)	L1020I	probably benign	Het
Zswim4	A	T	8: 84,950,377 (GRCm39)	L611Q	probably damaging	Het

Other mutations in Haghl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02002:Haghl	APN	17	26,003,239 (GRCm39)	missense	probably damaging	1.00
IGL02309:Haghl	APN	17	26,003,638 (GRCm39)	missense	probably damaging	1.00
IGL02458:Haghl	APN	17	26,002,470 (GRCm39)	splice site	probably benign
IGL02480:Haghl	APN	17	26,002,033 (GRCm39)	missense	probably damaging	1.00
IGL02884:Haghl	APN	17	26,002,072 (GRCm39)	missense	possibly damaging	0.53
R2939:Haghl	UTSW	17	26,004,060 (GRCm39)	missense	possibly damaging	0.57
R4458:Haghl	UTSW	17	26,003,994 (GRCm39)	missense	probably damaging	0.99
R4850:Haghl	UTSW	17	26,001,980 (GRCm39)	utr 3 prime	probably benign
R6465:Haghl	UTSW	17	26,002,793 (GRCm39)	missense	possibly damaging	0.50
R7934:Haghl	UTSW	17	26,002,519 (GRCm39)	missense	probably damaging	0.97
X0065:Haghl	UTSW	17	26,003,653 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGGGCAGACAATTACAATAACTGG -3'
(R):5'- CTTGGAGCTTGGAACTGAAGC -3'

Sequencing Primer
(F):5'- AGTAGTCATACTTCAGGGGATCCC -3'
(R):5'- CTGAAGCAGTTCCTCTGGAAAGTG -3'

Posted On

2014-12-29