Mutagenetix > Incidental Mutation

Incidental Mutation 'R1478:Dera'

165621

Institutional Source

Beutler Lab

Gene Symbol

Dera

Ensembl Gene

ENSMUSG00000030225

Gene Name

deoxyribose-phosphate aldolase (putative)

Synonyms

2010002D22Rik, 2500002K03Rik

MMRRC Submission

039531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1478 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

137754546-137857340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137830195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 214 (S214T)

Ref Sequence

ENSEMBL: ENSMUSP00000144935 (fasta)

Gene Model

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

AlphaFold

Q91YP3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087675
AA Change: S214T

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: S214T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203216
AA Change: S12T

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
AA Change: S12T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203507

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203693
AA Change: S214T

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: S214T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204356

Predicted Effect

unknown
Transcript: ENSMUST00000204779
AA Change: S47T

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.7%
20x: 90.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,469,056 (GRCm38)	L170Q	probably damaging	Het
Aacs	T	A	5: 125,503,223 (GRCm38)	I204N	possibly damaging	Het
Acaca	A	G	11: 84,372,627 (GRCm38)	T2025A	probably damaging	Het
B4galt3	C	T	1: 171,276,365 (GRCm38)	R170C	probably benign	Het
BC028528	T	C	3: 95,891,959 (GRCm38)		probably null	Het
Ccdc73	A	T	2: 104,907,610 (GRCm38)	Q17L	possibly damaging	Het
Ccdc73	A	G	2: 104,914,667 (GRCm38)	T50A	possibly damaging	Het
Ccdc83	T	C	7: 90,259,469 (GRCm38)	D19G	probably damaging	Het
Cct8l1	T	C	5: 25,517,769 (GRCm38)	V494A	probably benign	Het
Chd1	T	C	17: 15,739,507 (GRCm38)	F663L	probably damaging	Het
Chn2	A	T	6: 54,293,080 (GRCm38)	E319V	probably damaging	Het
Cnnm1	T	C	19: 43,471,856 (GRCm38)	V679A	probably damaging	Het
Cntn6	C	T	6: 104,776,428 (GRCm38)	T447I	probably benign	Het
Cyp3a11	G	T	5: 145,858,771 (GRCm38)	L457I	probably benign	Het
Dmtf1	A	G	5: 9,121,404 (GRCm38)	V501A	possibly damaging	Het
Dnpep	A	G	1: 75,316,027 (GRCm38)	V114A	probably damaging	Het
Dscam	C	T	16: 96,790,910 (GRCm38)	V722M	probably benign	Het
Dsp	A	G	13: 38,181,138 (GRCm38)	N499S	probably damaging	Het
Ecd	A	T	14: 20,346,657 (GRCm38)	Y53*	probably null	Het
Esyt3	T	C	9: 99,318,066 (GRCm38)	T692A	probably benign	Het
Fam19a2	T	A	10: 123,593,496 (GRCm38)	M5K	possibly damaging	Het
Fat1	T	A	8: 45,025,622 (GRCm38)	N2545K	probably damaging	Het
Fndc3a	A	G	14: 72,557,632 (GRCm38)		probably null	Het
Fscn3	A	G	6: 28,430,568 (GRCm38)	M246V	probably benign	Het
Gde1	G	T	7: 118,691,784 (GRCm38)	T106K	probably benign	Het
Gjc2	A	G	11: 59,177,608 (GRCm38)	I16T	possibly damaging	Het
Hacd4	A	T	4: 88,423,023 (GRCm38)	M168K	probably damaging	Het
Hmx3	A	G	7: 131,544,097 (GRCm38)	E178G	probably damaging	Het
Htt	A	G	5: 34,803,827 (GRCm38)	Y266C	probably damaging	Het
Kif27	G	T	13: 58,303,545 (GRCm38)	R990S	probably damaging	Het
Krtap22-2	A	T	16: 89,010,646 (GRCm38)	Y21*	probably null	Het
Lrrc41	T	A	4: 116,095,208 (GRCm38)	L661*	probably null	Het
Lrrc63	T	C	14: 75,125,984 (GRCm38)	T236A	probably benign	Het
Mmp13	T	C	9: 7,272,892 (GRCm38)	L84P	probably damaging	Het
Myh8	T	C	11: 67,292,725 (GRCm38)	I754T	probably benign	Het
Neb	A	C	2: 52,175,607 (GRCm38)	D5961E	probably benign	Het
Nlrx1	T	C	9: 44,264,077 (GRCm38)	H134R	probably benign	Het
Npepps	A	T	11: 97,226,847 (GRCm38)	M542K	probably benign	Het
Nup160	C	T	2: 90,679,399 (GRCm38)		probably benign	Het
Olfr402	T	A	11: 74,155,137 (GRCm38)		probably null	Het
Olfr952	T	A	9: 39,426,592 (GRCm38)	T160S	possibly damaging	Het
Pikfyve	T	C	1: 65,262,977 (GRCm38)		probably null	Het
Ppp6r1	A	T	7: 4,640,378 (GRCm38)		probably null	Het
Prss33	A	G	17: 23,835,098 (GRCm38)	W45R	probably damaging	Het
Ptprf	A	T	4: 118,212,105 (GRCm38)	Y980*	probably null	Het
Qrich1	T	C	9: 108,559,332 (GRCm38)	V743A	probably benign	Het
Rev3l	G	A	10: 39,783,333 (GRCm38)		probably null	Het
Samd9l	A	T	6: 3,376,369 (GRCm38)	N297K	probably benign	Het
Sap130	A	G	18: 31,680,474 (GRCm38)	H528R	possibly damaging	Het
Slc9b2	T	C	3: 135,326,102 (GRCm38)	V241A	probably benign	Het
Snx14	A	T	9: 88,394,528 (GRCm38)	V577E	probably benign	Het
Srrm2	T	C	17: 23,815,902 (GRCm38)	S507P	probably benign	Het
Stat2	A	G	10: 128,282,100 (GRCm38)		probably null	Het
Susd5	T	C	9: 114,096,684 (GRCm38)	F545S	probably benign	Het
Tnnt2	A	G	1: 135,848,026 (GRCm38)	T107A	probably benign	Het
Trappc6b	T	A	12: 59,048,167 (GRCm38)	I41F	possibly damaging	Het
Ttn	T	A	2: 76,852,073 (GRCm38)		probably benign	Het
Vmn1r88	A	C	7: 13,177,951 (GRCm38)	D78A	probably damaging	Het
Wisp3	G	A	10: 39,153,243 (GRCm38)	R230W	probably damaging	Het
Xpc	C	T	6: 91,508,528 (GRCm38)	D122N	possibly damaging	Het
Xpo1	C	T	11: 23,291,623 (GRCm38)	A890V	probably damaging	Het
Zfp493	A	G	13: 67,786,561 (GRCm38)	H211R	probably damaging	Het
Zfp958	A	T	8: 4,629,190 (GRCm38)	H405L	probably damaging	Het

Other mutations in Dera

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Dera	APN	6	137,830,271 (GRCm38)	missense	probably damaging	1.00
IGL02220:Dera	APN	6	137,780,817 (GRCm38)	splice site	probably null
IGL02449:Dera	APN	6	137,780,817 (GRCm38)	splice site	probably null
IGL03256:Dera	APN	6	137,779,645 (GRCm38)	missense	probably benign	0.00
R0644:Dera	UTSW	6	137,783,048 (GRCm38)	missense	probably benign	0.10
R0691:Dera	UTSW	6	137,796,747 (GRCm38)	intron	probably benign
R0733:Dera	UTSW	6	137,796,848 (GRCm38)	missense	probably damaging	1.00
R3950:Dera	UTSW	6	137,837,120 (GRCm38)	missense	probably damaging	0.99
R3951:Dera	UTSW	6	137,837,120 (GRCm38)	missense	probably damaging	0.99
R3952:Dera	UTSW	6	137,837,120 (GRCm38)	missense	probably damaging	0.99
R4561:Dera	UTSW	6	137,780,738 (GRCm38)	missense	possibly damaging	0.83
R7687:Dera	UTSW	6	137,836,880 (GRCm38)	missense
R7956:Dera	UTSW	6	137,836,828 (GRCm38)	missense	probably benign	0.02
R8676:Dera	UTSW	6	137,830,204 (GRCm38)	missense	probably damaging	1.00
R9600:Dera	UTSW	6	137,837,137 (GRCm38)	missense	probably benign	0.04
R9607:Dera	UTSW	6	137,856,734 (GRCm38)	missense	unknown
R9608:Dera	UTSW	6	137,836,878 (GRCm38)	missense	possibly damaging	0.81
Z1088:Dera	UTSW	6	137,837,118 (GRCm38)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGACCAGCAGCAAGAAGTTTAGCAG -3'
(R):5'- TTCGGCATAGGGAGCCAGTTATCC -3'

Sequencing Primer
(F):5'- gcccagaagacagcaatttac -3'
(R):5'- AGCCAGTTATCCTGTGAGC -3'

Posted On

2014-03-28