Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Dera'

661380

Institutional Source

Beutler Lab

Gene Symbol

Dera

Ensembl Gene

ENSMUSG00000030225

Gene Name

deoxyribose-phosphate aldolase

Synonyms

2500002K03Rik, 2010002D22Rik

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137731093-137814894 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 137807202 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 217 (I217F)

Ref Sequence

ENSEMBL: ENSMUSP00000084959 (fasta)

Gene Model

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

AlphaFold

Q91YP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000087675
AA Change: I217F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000084959
Gene: ENSMUSG00000030225
AA Change: I217F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203216
AA Change: I15F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000145264
Gene: ENSMUSG00000030225
AA Change: I15F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203507

Predicted Effect

probably damaging
Transcript: ENSMUST00000203693
AA Change: I217F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144935
Gene: ENSMUSG00000030225
AA Change: I217F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000204356

Predicted Effect

probably damaging
Transcript: ENSMUST00000204779
AA Change: I50F

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	A	4: 144,396,683 (GRCm39)	R350C	possibly damaging	Het
Acsm3	T	A	7: 119,374,392 (GRCm39)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,340,447 (GRCm39)		probably benign	Het
Alk	T	C	17: 72,204,936 (GRCm39)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,302,009 (GRCm39)		probably null	Het
Anxa6	C	A	11: 54,892,108 (GRCm39)	E283*	probably null	Het
Bnc2	T	C	4: 84,194,550 (GRCm39)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,727,043 (GRCm39)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,410,860 (GRCm39)	S449P	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,736,456 (GRCm39)	L1345H	possibly damaging	Het
Cyld	A	T	8: 89,456,138 (GRCm39)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,418,579 (GRCm39)	T340A	possibly damaging	Het
Czib	A	G	4: 107,752,796 (GRCm39)	N152D	unknown	Het
Dnah11	A	G	12: 118,154,539 (GRCm39)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,759,447 (GRCm39)	T152M	probably damaging	Het
Entrep1	T	C	19: 23,965,858 (GRCm39)	K214E	probably damaging	Het
Epb41l2	C	T	10: 25,319,674 (GRCm39)	T169M	probably benign	Het
Fam186a	T	C	15: 99,845,023 (GRCm39)	D407G	unknown	Het
Gli3	T	A	13: 15,889,619 (GRCm39)	C578S	probably damaging	Het
Gm6408	A	G	5: 146,419,237 (GRCm39)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,838,361 (GRCm39)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,708,133 (GRCm39)		probably benign	Het
Hyal4	C	A	6: 24,755,826 (GRCm39)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcna3	A	G	3: 106,943,908 (GRCm39)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,241,020 (GRCm39)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm39)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm39)		probably null	Het
Mtres1	A	G	10: 43,408,933 (GRCm39)	L70S	probably benign	Het
Myh13	T	A	11: 67,233,311 (GRCm39)	L610Q	probably damaging	Het
Or13p5	C	A	4: 118,592,235 (GRCm39)	P170T	probably damaging	Het
Or5ap2	T	A	2: 85,680,246 (GRCm39)	M150K	probably benign	Het
Or8b52	T	C	9: 38,577,064 (GRCm39)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,454,129 (GRCm39)	T170S	probably benign	Het
Polr3b	T	A	10: 84,516,251 (GRCm39)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,742,146 (GRCm39)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,787,039 (GRCm39)	N405S	possibly damaging	Het
Proz	T	G	8: 13,123,630 (GRCm39)	S300R	probably damaging	Het
Psg19	A	G	7: 18,527,990 (GRCm39)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,467,401 (GRCm39)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,382,452 (GRCm39)	Y103N	probably damaging	Het
Rspry1	G	C	8: 95,358,747 (GRCm39)	G194R	probably benign	Het
Scn2b	A	G	9: 45,036,917 (GRCm39)	I142V	probably damaging	Het
Spata20	A	T	11: 94,372,607 (GRCm39)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,614,503 (GRCm39)	H335L	probably benign	Het
Taar4	A	C	10: 23,836,801 (GRCm39)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tek	A	T	4: 94,738,074 (GRCm39)	H708L	probably benign	Het
Tmem89	C	T	9: 108,744,095 (GRCm39)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,559,681 (GRCm39)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,299,814 (GRCm39)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,659,422 (GRCm39)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,201,626 (GRCm39)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,798,240 (GRCm39)		probably benign	Het
Zfp423	C	A	8: 88,509,338 (GRCm39)	M335I	probably benign	Het
Zfp74	T	C	7: 29,634,079 (GRCm39)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,312,264 (GRCm39)	S116R	probably benign	Het

Other mutations in Dera

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02134:Dera	APN	6	137,807,269 (GRCm39)	missense	probably damaging	1.00
IGL02220:Dera	APN	6	137,757,815 (GRCm39)	splice site	probably null
IGL02449:Dera	APN	6	137,757,815 (GRCm39)	splice site	probably null
IGL03256:Dera	APN	6	137,756,643 (GRCm39)	missense	probably benign	0.00
R0644:Dera	UTSW	6	137,760,046 (GRCm39)	missense	probably benign	0.10
R0691:Dera	UTSW	6	137,773,745 (GRCm39)	intron	probably benign
R0733:Dera	UTSW	6	137,773,846 (GRCm39)	missense	probably damaging	1.00
R1478:Dera	UTSW	6	137,807,193 (GRCm39)	missense	possibly damaging	0.91
R3950:Dera	UTSW	6	137,814,118 (GRCm39)	missense	probably damaging	0.99
R3951:Dera	UTSW	6	137,814,118 (GRCm39)	missense	probably damaging	0.99
R3952:Dera	UTSW	6	137,814,118 (GRCm39)	missense	probably damaging	0.99
R4561:Dera	UTSW	6	137,757,736 (GRCm39)	missense	possibly damaging	0.83
R7687:Dera	UTSW	6	137,813,878 (GRCm39)	missense
R7956:Dera	UTSW	6	137,813,826 (GRCm39)	missense	probably benign	0.02
R9600:Dera	UTSW	6	137,814,135 (GRCm39)	missense	probably benign	0.04
R9607:Dera	UTSW	6	137,833,732 (GRCm39)	missense	unknown
R9608:Dera	UTSW	6	137,813,876 (GRCm39)	missense	possibly damaging	0.81
Z1088:Dera	UTSW	6	137,814,116 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- AGTTGAGTCTCATTCGTAACTGAGG -3'
(R):5'- ATCCTGTGAGCTGTGAGGAG -3'

Sequencing Primer
(F):5'- TGTGTGTGCCCAGAAGAC -3'
(R):5'- TGAGGAGGGTTATAAATAGCATCCTC -3'

Posted On

2021-03-08