Mutagenetix > Incidental Mutation

Incidental Mutation 'R5494:Ddn'

432258

Institutional Source

Beutler Lab

Gene Symbol

Ddn

Ensembl Gene

ENSMUSG00000059213

Gene Name

dendrin

Synonyms

LOC328602

MMRRC Submission

043055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5494 (G1)

Quality Score

152

Status

Not validated

Chromosome

Chromosomal Location

98701663-98705806 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 98704884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 82 (R82L)

Ref Sequence

ENSEMBL: ENSMUSP00000155382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075444] [ENSMUST00000230409]

AlphaFold

Q80TS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075444
AA Change: R136L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000074895
Gene: ENSMUSG00000059213
AA Change: R136L

Domain	Start	End	E-Value	Type
Pfam:Dendrin	55	708	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181510

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229573

Predicted Effect

probably damaging
Transcript: ENSMUST00000230409
AA Change: R82L

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.3%
20x: 91.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal proteinuria in resposne to LPS treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,223,165 (GRCm39)	E436G	probably damaging	Het
Aldh18a1	C	T	19: 40,539,734 (GRCm39)	R747Q	probably damaging	Het
Apob	A	G	12: 8,061,762 (GRCm39)	N3415D	probably damaging	Het
Asb18	T	C	1: 89,882,121 (GRCm39)	E139G	probably damaging	Het
Atrn	T	C	2: 130,864,995 (GRCm39)	L1374P	probably damaging	Het
Ccdc81	A	G	7: 89,526,781 (GRCm39)	S410P	probably damaging	Het
Cep112	A	G	11: 108,555,431 (GRCm39)	E809G	probably damaging	Het
Dctn1	G	T	6: 83,159,546 (GRCm39)	R8L	possibly damaging	Het
Dgkz	A	T	2: 91,771,394 (GRCm39)		probably null	Het
Eif4a3l1	C	G	6: 136,306,555 (GRCm39)	R339G	probably damaging	Het
Frem1	T	C	4: 82,858,990 (GRCm39)	*415W	probably null	Het
Fry	A	T	5: 150,314,132 (GRCm39)	D789V	probably damaging	Het
Fzr1	C	T	10: 81,207,178 (GRCm39)		probably null	Het
Gemin5	T	A	11: 58,021,526 (GRCm39)	Y1025F	probably damaging	Het
Gjb5	C	T	4: 127,249,347 (GRCm39)	V266M	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Golgb1	T	A	16: 36,749,045 (GRCm39)	N3056K	possibly damaging	Het
Gucy1b1	T	A	3: 81,947,183 (GRCm39)	D342V	probably damaging	Het
H1f9	T	C	11: 94,858,843 (GRCm39)	L46S	probably benign	Het
Hc	A	T	2: 34,893,551 (GRCm39)		probably null	Het
Heg1	A	G	16: 33,545,804 (GRCm39)	D185G	probably benign	Het
Igf2r	A	T	17: 12,912,032 (GRCm39)	M1865K	possibly damaging	Het
Il27	A	G	7: 126,192,100 (GRCm39)	L12P	probably damaging	Het
Krt1	C	T	15: 101,759,149 (GRCm39)	C5Y	unknown	Het
Med25	C	T	7: 44,535,225 (GRCm39)	V170M	probably damaging	Het
Mgat4a	T	A	1: 37,493,898 (GRCm39)	Y316F	probably damaging	Het
Oas3	A	G	5: 120,899,709 (GRCm39)	V725A	unknown	Het
Or52ac1	C	A	7: 104,245,932 (GRCm39)	G152V	probably damaging	Het
Or5w16	T	C	2: 87,576,950 (GRCm39)	S137P	probably damaging	Het
Pcdhb17	T	C	18: 37,620,300 (GRCm39)	S697P	probably damaging	Het
Plch2	T	C	4: 155,075,579 (GRCm39)	Y751C	probably damaging	Het
Rbms2	G	T	10: 127,973,560 (GRCm39)	T252N	probably damaging	Het
Rbpjl	GCC	GC	2: 164,256,330 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Scfd1	A	G	12: 51,443,522 (GRCm39)		probably null	Het
Shank3	C	T	15: 89,432,441 (GRCm39)	T1062M	probably damaging	Het
Slc28a1	G	A	7: 80,817,787 (GRCm39)	G552E	probably damaging	Het
Sntn	A	G	14: 13,682,214 (GRCm38)	R96G	probably benign	Het
Tas2r102	T	C	6: 132,740,106 (GRCm39)	V338A	probably benign	Het
Trim62	A	T	4: 128,778,999 (GRCm39)	N145Y	possibly damaging	Het
Tspoap1	C	T	11: 87,666,031 (GRCm39)	T863I	possibly damaging	Het
Ubr5	C	T	15: 38,019,525 (GRCm39)	C739Y	possibly damaging	Het
Vps13c	G	A	9: 67,855,428 (GRCm39)	V2498I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Ddn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1444:Ddn	UTSW	15	98,704,485 (GRCm39)	missense	probably damaging	0.98
R1499:Ddn	UTSW	15	98,704,647 (GRCm39)	missense	possibly damaging	0.89
R4419:Ddn	UTSW	15	98,703,492 (GRCm39)	missense	probably benign	0.14
R4591:Ddn	UTSW	15	98,705,687 (GRCm39)	missense	possibly damaging	0.85
R5171:Ddn	UTSW	15	98,704,207 (GRCm39)	missense	possibly damaging	0.86
R5333:Ddn	UTSW	15	98,703,237 (GRCm39)	missense	possibly damaging	0.92
R5426:Ddn	UTSW	15	98,704,347 (GRCm39)	missense	possibly damaging	0.93
R6260:Ddn	UTSW	15	98,703,735 (GRCm39)	missense	possibly damaging	0.77
R7286:Ddn	UTSW	15	98,703,906 (GRCm39)	missense	possibly damaging	0.71
R7467:Ddn	UTSW	15	98,703,247 (GRCm39)	missense	possibly damaging	0.85
R8847:Ddn	UTSW	15	98,704,794 (GRCm39)	missense	possibly damaging	0.85
R9595:Ddn	UTSW	15	98,705,577 (GRCm39)	missense	possibly damaging	0.53
R9676:Ddn	UTSW	15	98,703,252 (GRCm39)	missense	possibly damaging	0.86
Z1088:Ddn	UTSW	15	98,704,020 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CTTCATAAGAAGGTGGAGCCAC -3'
(R):5'- ATTGTCCCAGGTGTAGGCTG -3'

Sequencing Primer
(F):5'- TCTCAACAGCAGGTGAGCCTC -3'
(R):5'- GCCCGGGATCCCCTGAG -3'

Posted On

2016-10-05