Mutagenetix > Incidental Mutations

Incidental Mutation 'R0733:Dera'

67102

Institutional Source

Beutler Lab

Gene Symbol

Dera

Ensembl Gene

ENSMUSG00000030225

Gene Name

deoxyribose-phosphate aldolase (putative)

Synonyms

2010002D22Rik, 2500002K03Rik

MMRRC Submission

038914-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0733 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

137754546-137857340 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 137796848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 201 (N201K)

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: N201K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: N201K

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

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 damaging
Transcript: ENSMUST00000203693
AA Change: N201K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: N201K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204356

Predicted Effect

probably benign
Transcript: ENSMUST00000204779

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204976

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.9%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,682,932	T1056S	possibly damaging	Het
Abl1	A	G	2: 31,778,945	Y88C	probably damaging	Het
Acbd3	A	G	1: 180,752,218	I476V	possibly damaging	Het
Apba2	T	C	7: 64,750,164	I689T	probably damaging	Het
AU018091	A	G	7: 3,159,161	Y362H	probably damaging	Het
Cdh26	T	C	2: 178,486,931	S759P	probably damaging	Het
Clcc1	A	G	3: 108,674,740	Q387R	probably benign	Het
Cobl	C	T	11: 12,365,167	G259R	probably benign	Het
Col4a1	C	T	8: 11,218,934	R968Q	possibly damaging	Het
Ddr2	A	G	1: 170,004,812		probably benign	Het
Dsg1a	A	C	18: 20,338,668	E659A	probably damaging	Het
Dus2	G	T	8: 106,046,070		probably null	Het
Ears2	T	A	7: 122,048,129	I311F	possibly damaging	Het
Eml4	T	A	17: 83,454,464	M417K	possibly damaging	Het
Exosc4	A	T	15: 76,329,416	M147L	probably benign	Het
Fam171a2	T	A	11: 102,439,722	Y278F	possibly damaging	Het
Fastk	A	C	5: 24,443,923	H155Q	probably null	Het
Fem1b	G	T	9: 62,796,843	N378K	possibly damaging	Het
Fut11	C	A	14: 20,695,359	Y119*	probably null	Het
Gatsl2	T	C	5: 134,136,215	F208L	possibly damaging	Het
Gm6797	T	C	X: 8,645,149		noncoding transcript	Het
Gstt4	T	C	10: 75,817,314	D138G	probably benign	Het
Hprt	G	A	X: 53,002,150	C66Y	probably damaging	Het
Inpp5d	T	A	1: 87,668,077		probably benign	Het
Ints6l	T	A	X: 56,501,748	S621T	probably benign	Het
Ints6l	C	G	X: 56,504,812	A699G	probably benign	Het
Kctd3	A	G	1: 188,997,050		probably benign	Het
Kntc1	G	T	5: 123,790,916	V1252L	probably null	Het
Lama5	A	T	2: 180,180,718	M2854K	possibly damaging	Het
Lcn5	G	T	2: 25,661,101	L187F	probably damaging	Het
Lrp3	A	T	7: 35,202,120	L758M	possibly damaging	Het
Ltn1	T	A	16: 87,412,507	I740F	probably benign	Het
Mcm5	A	G	8: 75,127,248	K710R	probably benign	Het
Mllt10	A	G	2: 18,203,766		probably benign	Het
Nbr1	T	A	11: 101,576,371	M864K	probably benign	Het
Nkiras2	T	C	11: 100,624,932		probably null	Het
Nlrp4d	T	A	7: 10,382,522	E144V	probably benign	Het
Nppc	T	C	1: 86,669,634		probably benign	Het
Ormdl2	T	A	10: 128,819,999	Q94L	probably damaging	Het
Paox	G	C	7: 140,127,527	D88H	probably damaging	Het
Papd4	T	A	13: 93,155,039	Q365L	probably benign	Het
Prl7a2	T	C	13: 27,662,688	E114G	probably damaging	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Prss54	T	C	8: 95,559,740	D235G	possibly damaging	Het
Rwdd3	T	C	3: 121,171,607	M24V	probably benign	Het
Serpinb6e	T	A	13: 33,841,218	N30I	probably benign	Het
Sh3rf1	G	A	8: 61,372,560	A530T	probably benign	Het
Slc28a1	T	C	7: 81,124,900	I165T	probably benign	Het
Slco6d1	T	A	1: 98,428,269	L143*	probably null	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Snx27	A	G	3: 94,562,013	L7P	probably benign	Het
Spsb1	C	T	4: 149,906,917	V65I	probably benign	Het
St8sia2	C	T	7: 73,960,840	G232S	probably benign	Het
Sun1	A	G	5: 139,231,163	H255R	possibly damaging	Het
Ube2k	A	G	5: 65,581,452	I95V	probably damaging	Het
Ube2m	C	A	7: 13,035,752	E126D	probably damaging	Het
Vmn2r27	A	T	6: 124,192,188	M661K	probably benign	Het
Wdr47	A	T	3: 108,618,623	D154V	probably damaging	Het
Zfp113	A	G	5: 138,145,583	V135A	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
R0644:Dera	UTSW	6	137783048	missense	probably benign	0.10
R0691:Dera	UTSW	6	137796747	intron	probably benign
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'- ACTGAATGTGAACTGTAGCAGGGTG -3'
(R):5'- TCAGCCCTCTGGAAAGAGGATGAC -3'

Sequencing Primer
(F):5'- CTAAATCCGAAGTGGGTTCTTCTG -3'
(R):5'- TGACGGTAGCACTTGCAATAC -3'

Posted On

2013-09-03