Mutagenetix > Incidental Mutations

Incidental Mutation 'R0644:Dera'

56999

Institutional Source

Beutler Lab

Gene Symbol

Dera

Ensembl Gene

ENSMUSG00000030225

Gene Name

deoxyribose-phosphate aldolase (putative)

Synonyms

2010002D22Rik, 2500002K03Rik

MMRRC Submission

038829-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0644 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137754546-137857340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137783048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 165 (T165S)

Ref Sequence

ENSEMBL: ENSMUSP00000144935 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087675] [ENSMUST00000203216] [ENSMUST00000203693]

AlphaFold

Q91YP3

Predicted Effect

probably benign
Transcript: ENSMUST00000087675
AA Change: T165S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: T165S

Domain	Start	End	E-Value	Type
DeoC	49	299	1.16e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203136

Predicted Effect

probably benign
Transcript: ENSMUST00000203216

SMART Domains

Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225

Domain	Start	End	E-Value	Type
Pfam:DeoC	2	97	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203693
AA Change: T165S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: T165S

Domain	Start	End	E-Value	Type
DeoC	49	271	4.4e-50	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203754

Predicted Effect

probably benign
Transcript: ENSMUST00000204356

Predicted Effect

unknown
Transcript: ENSMUST00000204779
AA Change: T41S

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	A	T	9: 44,274,699	I625N	possibly damaging	Het
Accs	A	G	2: 93,839,229	L282P	probably damaging	Het
Acsbg1	T	A	9: 54,609,826	I568F	probably damaging	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp5o	A	T	16: 91,926,484	V73E	probably damaging	Het
Bcl9	T	C	3: 97,210,497	S294G	probably benign	Het
C2cd5	A	T	6: 143,013,224	M1003K	probably damaging	Het
Col6a5	A	G	9: 105,948,324		probably null	Het
Dscr3	A	G	16: 94,502,195	L182P	probably damaging	Het
Elf2	C	T	3: 51,308,131	V53M	probably damaging	Het
Entpd5	A	T	12: 84,386,141	F212L	probably benign	Het
Fam46d	T	C	X: 107,870,645	F111S	probably damaging	Het
Fndc3c1	T	A	X: 106,434,962	T761S	probably benign	Het
Fsip2	A	G	2: 82,976,897	T1187A	probably benign	Het
Golga2	T	C	2: 32,297,521	S95P	probably damaging	Het
Hfm1	A	T	5: 106,898,256		probably null	Het
Impdh2	G	T	9: 108,563,637	V112L	possibly damaging	Het
Kbtbd3	A	T	9: 4,329,868	M81L	probably damaging	Het
Lactb	T	C	9: 66,955,890	R481G	possibly damaging	Het
Nacad	C	T	11: 6,599,486	C1235Y	possibly damaging	Het
Olfr1164	T	A	2: 88,093,289	M216L	probably benign	Het
Olfr196	G	A	16: 59,167,616	H176Y	probably damaging	Het
Osbpl6	C	T	2: 76,594,840	R878C	probably damaging	Het
Polr3a	G	A	14: 24,484,164	P91L	probably damaging	Het
Rab27a	T	A	9: 73,095,423	S211R	probably benign	Het
Scn9a	C	T	2: 66,533,061		probably null	Het
Shank2	T	C	7: 144,411,849	S1065P	probably benign	Het
Tgm4	A	T	9: 123,051,458	D308V	probably damaging	Het
Ythdf3	T	C	3: 16,204,892	I412T	possibly damaging	Het
Zfp831	T	C	2: 174,645,863	V777A	probably benign	Het

Other mutations in Dera

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Dera	APN	6	137830271	missense	probably damaging	1.00
IGL02220:Dera	APN	6	137780817	splice site	probably null
IGL02449:Dera	APN	6	137780817	splice site	probably null
IGL03256:Dera	APN	6	137779645	missense	probably benign	0.00
R0691:Dera	UTSW	6	137796747	intron	probably benign
R0733:Dera	UTSW	6	137796848	missense	probably damaging	1.00
R1478:Dera	UTSW	6	137830195	missense	possibly damaging	0.91
R3950:Dera	UTSW	6	137837120	missense	probably damaging	0.99
R3951:Dera	UTSW	6	137837120	missense	probably damaging	0.99
R3952:Dera	UTSW	6	137837120	missense	probably damaging	0.99
R4561:Dera	UTSW	6	137780738	missense	possibly damaging	0.83
R7687:Dera	UTSW	6	137836880	missense
R7956:Dera	UTSW	6	137836828	missense	probably benign	0.02
R8676:Dera	UTSW	6	137830204	missense	probably damaging	1.00
Z1088:Dera	UTSW	6	137837118	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- GCCTCATTTCTCAAAGCCGCAC -3'
(R):5'- TGCCCCTAACTACACAGAGAGTCG -3'

Sequencing Primer
(F):5'- ACTGACCAATTGAGGTTTGTCC -3'
(R):5'- AGAGAGTCGTAACCTGTTCCTAC -3'

Posted On

2013-07-11