Mutagenetix > Incidental Mutation

Incidental Mutation 'R4458:Haghl'

330038

Institutional Source

Beutler Lab

Gene Symbol

Haghl

Ensembl Gene

ENSMUSG00000061046

Gene Name

hydroxyacylglutathione hydrolase-like

Synonyms

1500017E18Rik, C330022E15Rik, 2810014I23Rik

MMRRC Submission

041718-MU

Accession Numbers

Essential gene?

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

Stock #

R4458 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25998817-26004560 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26003994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 30 (V30E)

Ref Sequence

ENSEMBL: ENSMUSP00000119647 (fasta)

Gene Model

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

probably damaging
Transcript: ENSMUST00000077938
AA Change: V30E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077091
Gene: ENSMUSG00000061046
AA Change: V30E

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: ENSMUST00000145053
AA Change: V30E

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114961
Gene: ENSMUSG00000061046
AA Change: V30E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138100

Predicted Effect

probably damaging
Transcript: ENSMUST00000140738
AA Change: V30E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116841
Gene: ENSMUSG00000061046
AA Change: V30E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143248

Predicted Effect

probably damaging
Transcript: ENSMUST00000150324
AA Change: V30E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119647
Gene: ENSMUSG00000061046
AA Change: V30E

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

noncoding transcript
Transcript: ENSMUST00000148986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149645

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630076J17Rik	G	A	3: 107,139,997 (GRCm39)		probably null	Het
Akap13	A	G	7: 75,389,213 (GRCm39)	D2377G	probably damaging	Het
Ankrd44	A	T	1: 54,801,550 (GRCm39)	I56N	possibly damaging	Het
Apob	T	A	12: 8,065,445 (GRCm39)	I4105N	probably damaging	Het
Arhgap5	T	A	12: 52,564,740 (GRCm39)	N570K	probably benign	Het
Arid1b	A	T	17: 5,293,191 (GRCm39)	Q703L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Cad	T	A	5: 31,218,570 (GRCm39)	V499D	probably damaging	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Celsr2	A	C	3: 108,302,313 (GRCm39)	I2605S	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Clec18a	T	A	8: 111,802,102 (GRCm39)	T296S	probably damaging	Het
Crybg2	C	T	4: 133,802,205 (GRCm39)	P1122S	probably benign	Het
Cyld	G	T	8: 89,445,929 (GRCm39)	S309I	probably benign	Het
Dctn5	G	T	7: 121,734,303 (GRCm39)	R49L	probably damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Erbin	C	A	13: 103,970,065 (GRCm39)	V1184F	probably damaging	Het
Ercc2	G	T	7: 19,127,771 (GRCm39)	R406L	probably damaging	Het
Eya1	C	T	1: 14,253,420 (GRCm39)	V519M	probably damaging	Het
Flad1	T	C	3: 89,316,241 (GRCm39)	H107R	probably benign	Het
Fsip2	G	T	2: 82,821,120 (GRCm39)	A5618S	possibly damaging	Het
Gabbr1	G	T	17: 37,378,667 (GRCm39)		probably null	Het
Itga5	C	T	15: 103,258,630 (GRCm39)	E822K	probably damaging	Het
Klhl26	T	A	8: 70,905,342 (GRCm39)	E108D	possibly damaging	Het
Kpnb1	A	T	11: 97,059,996 (GRCm39)	L558Q	probably damaging	Het
Lias	T	C	5: 65,551,383 (GRCm39)		probably null	Het
Ltbp1	A	T	17: 75,583,502 (GRCm39)	K434M	possibly damaging	Het
Marchf1	C	A	8: 66,908,823 (GRCm39)	A177E	probably damaging	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nol4	T	C	18: 22,885,052 (GRCm39)	I419V	probably damaging	Het
Nol6	A	G	4: 41,115,888 (GRCm39)	L1068P	probably damaging	Het
Nrcam	T	C	12: 44,606,513 (GRCm39)	S420P	probably damaging	Het
Or10c1	A	T	17: 37,522,204 (GRCm39)	I180N	possibly damaging	Het
Pitpnm2	T	C	5: 124,259,439 (GRCm39)	T1299A	probably benign	Het
Prdm16	A	G	4: 154,406,765 (GRCm39)	V1220A	probably benign	Het
Saraf	T	C	8: 34,621,870 (GRCm39)	S25P	unknown	Het
Serpine3	C	A	14: 62,911,922 (GRCm39)	L295I	probably damaging	Het
Sntb2	G	A	8: 107,718,239 (GRCm39)		probably null	Het
Surf6	T	C	2: 26,782,721 (GRCm39)	E202G	probably benign	Het
Tent5a	T	C	9: 85,208,527 (GRCm39)	I99V	possibly damaging	Het
Th	A	T	7: 142,450,690 (GRCm39)	D135E	probably benign	Het
Traf1	A	G	2: 34,835,445 (GRCm39)	Y326H	probably damaging	Het
Tshz2	G	A	2: 169,727,008 (GRCm39)	A66T	probably benign	Het
Ttn	T	C	2: 76,777,257 (GRCm39)	M1382V	probably benign	Het
Ubqlnl	A	G	7: 103,798,396 (GRCm39)	V367A	probably benign	Het
Uspl1	T	A	5: 149,150,962 (GRCm39)	S707T	possibly damaging	Het
Utp18	A	G	11: 93,761,359 (GRCm39)	S350P	possibly damaging	Het
Vmn1r177	A	G	7: 23,565,645 (GRCm39)	V77A	possibly damaging	Het
Vmn1r229	A	G	17: 21,034,894 (GRCm39)	I46M	probably damaging	Het
Vnn3	T	C	10: 23,741,567 (GRCm39)	Y291H	probably benign	Het
Vps9d1	A	G	8: 123,974,487 (GRCm39)	S267P	probably benign	Het
Wrn	T	A	8: 33,785,026 (GRCm39)	T692S	probably damaging	Het
Yeats2	T	C	16: 20,032,071 (GRCm39)	I19T	probably damaging	Het
Zfp13	G	A	17: 23,800,150 (GRCm39)	A36V	probably benign	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
R2940:Haghl	UTSW	17	26,004,060 (GRCm39)	missense	possibly damaging	0.57
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'- AATTCCATAGGCAGGCCCTG -3'
(R):5'- GTGGAGCAACTCTTCCTTTGTG -3'

Sequencing Primer
(F):5'- CCCAGGGCAGCAAAGGTTAG -3'
(R):5'- CCTTTGTGCTCCCAGTGTGTG -3'

Posted On

2015-07-21