Mutagenetix > Incidental Mutation

Incidental Mutation 'R0717:Hdhd2'

62889

Institutional Source

Beutler Lab

Gene Symbol

Hdhd2

Ensembl Gene

ENSMUSG00000025421

Gene Name

haloacid dehalogenase-like hydrolase domain containing 2

Synonyms

3110052N05Rik, 0610039H12Rik

MMRRC Submission

038899-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0717 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

77031775-77059867 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 77038900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 28 (A28T)

Ref Sequence

ENSEMBL: ENSMUSP00000116152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026485] [ENSMUST00000097521] [ENSMUST00000097522] [ENSMUST00000142456] [ENSMUST00000143910] [ENSMUST00000145634] [ENSMUST00000147332] [ENSMUST00000150990] [ENSMUST00000148955] [ENSMUST00000156454]

AlphaFold

Q3UGR5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026485
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026485
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.1e-21	PFAM
Pfam:HAD_2	167	223	1e-7	PFAM
Pfam:Hydrolase_like	176	251	3.4e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097521
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095128
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	123	4.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097522
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000095129
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142456

SMART Domains

Protein: ENSMUSP00000118504
Gene: ENSMUSG00000025421

Domain	Start	End	E-Value	Type
Pfam:Yos1	5	66	4.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143910
AA Change: A28T

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000118678
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	116	2.5e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000145634
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123320
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147332
AA Change: A28T

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116152
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	123	4.8e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000150990
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114212
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000148955
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116243
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	193	1.4e-21	PFAM
Pfam:HAD_2	161	223	1.1e-7	PFAM
Pfam:Hydrolase_like	176	251	1.3e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156454
AA Change: A28T

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000123035
Gene: ENSMUSG00000025421
AA Change: A28T

Domain	Start	End	E-Value	Type
Pfam:Hydrolase_6	10	60	1.6e-13	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 91.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transposon insertion results in complete embryonic lethality at E7. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amn1	G	A	6: 149,084,970 (GRCm39)	H37Y	possibly damaging	Het
Anxa11	G	A	14: 25,875,213 (GRCm39)		probably null	Het
Arhgap33	G	T	7: 30,227,774 (GRCm39)	A475E	probably damaging	Het
Cacna1s	A	G	1: 136,026,029 (GRCm39)	N811S	probably damaging	Het
Cadm1	T	A	9: 47,721,366 (GRCm39)	M252K	probably benign	Het
Cars1	T	C	7: 143,138,492 (GRCm39)	R149G	probably damaging	Het
Ccdc125	A	T	13: 100,826,866 (GRCm39)	D241V	probably damaging	Het
Col12a1	G	A	9: 79,519,701 (GRCm39)	P2836S	probably damaging	Het
Grid2	T	A	6: 64,643,259 (GRCm39)	I1007K	possibly damaging	Het
Hivep1	A	T	13: 42,308,422 (GRCm39)	T221S	possibly damaging	Het
Lztr1	A	G	16: 17,333,912 (GRCm39)		probably null	Het
Mbd1	C	T	18: 74,406,668 (GRCm39)	A137V	possibly damaging	Het
Myh15	T	C	16: 48,963,356 (GRCm39)	V1099A	probably benign	Het
Nox4	C	A	7: 86,954,098 (GRCm39)	Y134*	probably null	Het
Or5k14	A	G	16: 58,693,133 (GRCm39)	C127R	probably damaging	Het
Pde1c	T	A	6: 56,099,997 (GRCm39)	N681I	probably damaging	Het
Pon1	A	G	6: 5,193,674 (GRCm39)		probably null	Het
Prokr2	T	C	2: 132,223,254 (GRCm39)	D96G	probably damaging	Het
Sdk2	C	A	11: 113,723,152 (GRCm39)	V1280F	probably damaging	Het
Sim1	A	G	10: 50,785,924 (GRCm39)	D259G	probably damaging	Het
Tcaf1	A	T	6: 42,655,599 (GRCm39)	M459K	probably benign	Het
Tmem201	T	A	4: 149,803,267 (GRCm39)	N534Y	probably damaging	Het
Tspan9	A	T	6: 127,943,343 (GRCm39)		probably null	Het
Uba7	A	T	9: 107,854,416 (GRCm39)	T252S	probably benign	Het
Ube2e2	T	C	14: 18,888,435 (GRCm38)	T3A	probably benign	Het

Other mutations in Hdhd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01063:Hdhd2	APN	18	77,052,969 (GRCm39)	splice site	probably null
IGL01102:Hdhd2	APN	18	77,044,607 (GRCm39)	missense	probably damaging	1.00
R0021:Hdhd2	UTSW	18	77,058,311 (GRCm39)	missense	probably damaging	1.00
R0021:Hdhd2	UTSW	18	77,058,311 (GRCm39)	missense	probably damaging	1.00
R1958:Hdhd2	UTSW	18	77,052,841 (GRCm39)	missense	probably benign
R2060:Hdhd2	UTSW	18	77,052,738 (GRCm39)	splice site	probably null
R2266:Hdhd2	UTSW	18	77,052,866 (GRCm39)	missense	probably benign	0.00
R2268:Hdhd2	UTSW	18	77,052,866 (GRCm39)	missense	probably benign	0.00
R2269:Hdhd2	UTSW	18	77,052,866 (GRCm39)	missense	probably benign	0.00
R2871:Hdhd2	UTSW	18	77,042,702 (GRCm39)	missense	probably damaging	1.00
R2871:Hdhd2	UTSW	18	77,042,702 (GRCm39)	missense	probably damaging	1.00
R2872:Hdhd2	UTSW	18	77,042,702 (GRCm39)	missense	probably damaging	1.00
R2872:Hdhd2	UTSW	18	77,042,702 (GRCm39)	missense	probably damaging	1.00
R2873:Hdhd2	UTSW	18	77,042,702 (GRCm39)	missense	probably damaging	1.00
R3788:Hdhd2	UTSW	18	77,042,883 (GRCm39)	critical splice donor site	probably null
R3789:Hdhd2	UTSW	18	77,042,883 (GRCm39)	critical splice donor site	probably null
R5784:Hdhd2	UTSW	18	77,054,841 (GRCm39)	missense	probably damaging	1.00
R7403:Hdhd2	UTSW	18	77,042,736 (GRCm39)	missense	probably benign	0.00
R7406:Hdhd2	UTSW	18	77,031,811 (GRCm39)	missense	probably benign	0.01
R7644:Hdhd2	UTSW	18	77,031,871 (GRCm39)	missense	possibly damaging	0.79
R7849:Hdhd2	UTSW	18	77,052,962 (GRCm39)	missense	probably damaging	1.00
R8992:Hdhd2	UTSW	18	77,058,366 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- CTGAGAAGCCTGAAAGTAAGTCGTAGC -3'
(R):5'- ACGATGTTGGGAGGATATTACAACGC -3'

Sequencing Primer
(F):5'- ttttttttCCAAAAGAGAAGCAGC -3'
(R):5'- TGGGAGGATATTACAACGCATACATC -3'

Posted On

2013-07-30