Mutagenetix > Incidental Mutation

Incidental Mutation 'R4728:Dennd6a'

358629

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

042020-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R4728 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26348575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 313 (E313G)

Ref Sequence

ENSEMBL: ENSMUSP00000152966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]

AlphaFold

Q8BH65

Predicted Effect

probably null
Transcript: ENSMUST00000037585
AA Change: E537G

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

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: E537G

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.9e-11	PFAM
Pfam:DENN	165	371	1.1e-7	PFAM
Pfam:SPA	265	373	4.2e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	541	N/A	INTRINSIC
low complexity region	554	563	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166902

Predicted Effect

probably damaging
Transcript: ENSMUST00000203874
AA Change: E537G

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

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: E537G

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.6e-11	PFAM
Pfam:DENN	165	371	9.7e-8	PFAM
Pfam:SPA	265	373	3.7e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	537	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000224111
AA Change: E313G

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

Predicted Effect

probably null
Transcript: ENSMUST00000224248
AA Change: E313G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000224378

Meta Mutation Damage Score

0.4096

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

94% (73/78)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bicc1	C	T	10: 70,771,661 (GRCm39)		probably null	Het
Bpifc	T	A	10: 85,827,063 (GRCm39)	H162L	possibly damaging	Het
Ccdc163	C	T	4: 116,566,209 (GRCm39)		probably benign	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cyth4	G	A	15: 78,486,913 (GRCm39)	G14R	probably benign	Het
Ddhd2	C	T	8: 26,242,294 (GRCm39)	V194I	probably damaging	Het
Ddx23	A	T	15: 98,548,106 (GRCm39)	V433E	probably damaging	Het
Defb34	A	G	8: 19,176,434 (GRCm39)	N42D	possibly damaging	Het
Dhx30	A	G	9: 109,916,718 (GRCm39)	F570S	probably damaging	Het
Dnah3	T	C	7: 119,658,589 (GRCm39)	E864G	probably damaging	Het
Eps8	G	A	6: 137,486,160 (GRCm39)	Q451*	probably null	Het
Fmo9	A	T	1: 166,490,880 (GRCm39)	Y533N	possibly damaging	Het
Fut8	T	A	12: 77,521,973 (GRCm39)	D537E	probably damaging	Het
Gm5407	T	C	16: 49,117,283 (GRCm39)		noncoding transcript	Het
Gm9916	A	G	3: 118,228,690 (GRCm39)		noncoding transcript	Het
Grm5	T	A	7: 87,624,496 (GRCm39)	F354L	probably damaging	Het
Hira	C	T	16: 18,741,654 (GRCm39)	A353V	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Igf1r	T	C	7: 67,839,372 (GRCm39)	L628P	probably damaging	Het
Kcnh5	A	T	12: 75,054,555 (GRCm39)	I463N	probably damaging	Het
Kcnh8	C	A	17: 53,032,898 (GRCm39)	Q62K	probably damaging	Het
Kif3c	A	T	12: 3,415,873 (GRCm39)		probably benign	Het
Kmo	A	G	1: 175,484,329 (GRCm39)	D353G	possibly damaging	Het
Lrp1	T	C	10: 127,399,606 (GRCm39)	T2301A	probably damaging	Het
Lrrc7	GAAGTTGTTTGGAGATTCTTATCTTA	GA	3: 158,024,045 (GRCm39)		probably benign	Het
Map3k9	C	T	12: 81,769,147 (GRCm39)	R967Q	probably damaging	Het
Mcm8	A	G	2: 132,674,774 (GRCm39)	H414R	probably damaging	Het
Mier1	A	G	4: 102,997,402 (GRCm39)	E145G	probably damaging	Het
Mlc1	A	T	15: 88,862,234 (GRCm39)		probably null	Het
Napb	T	C	2: 148,551,245 (GRCm39)	D96G	probably damaging	Het
Nbas	T	A	12: 13,338,740 (GRCm39)	S193R	probably damaging	Het
Nlrp4a	T	C	7: 26,174,515 (GRCm39)	V967A	probably benign	Het
Nlrp4e	T	A	7: 23,020,989 (GRCm39)	I492K	probably benign	Het
Notch4	A	G	17: 34,789,179 (GRCm39)	T497A	probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Ogdh	T	A	11: 6,292,549 (GRCm39)	Y417N	probably damaging	Het
Or5w19	T	C	2: 87,698,779 (GRCm39)	V148A	probably benign	Het
Ovol1	A	T	19: 5,603,690 (GRCm39)	Y70*	probably null	Het
P2ry1	A	G	3: 60,911,641 (GRCm39)	Y260C	probably damaging	Het
Pcx	G	T	19: 4,653,124 (GRCm39)	R263L	probably damaging	Het
Pla2g4f	T	A	2: 120,131,402 (GRCm39)	T774S	probably benign	Het
Prdm15	T	G	16: 97,622,986 (GRCm39)	K289Q	probably benign	Het
Prl7c1	A	T	13: 27,960,268 (GRCm39)	H91Q	probably benign	Het
Prmt5	C	T	14: 54,745,364 (GRCm39)	R601H	probably benign	Het
Prrc2b	T	A	2: 32,120,637 (GRCm39)	D2192E	probably damaging	Het
Ptdss2	A	G	7: 140,734,372 (GRCm39)	I299V	probably benign	Het
Rbm28	A	G	6: 29,143,591 (GRCm39)	V354A	probably damaging	Het
Rps6kb1	G	C	11: 86,435,484 (GRCm39)		probably null	Het
Sema3f	A	G	9: 107,582,639 (GRCm39)	S35P	probably benign	Het
Serpina3n	A	T	12: 104,375,422 (GRCm39)	T165S	probably benign	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Sh2d4b	T	A	14: 40,564,389 (GRCm39)	R267*	probably null	Het
Slc5a12	A	T	2: 110,474,769 (GRCm39)	K554*	probably null	Het
Snrnp200	T	C	2: 127,059,334 (GRCm39)	L409P	probably damaging	Het
Snrnp200	T	A	2: 127,069,798 (GRCm39)	V981E	possibly damaging	Het
Spon2	T	A	5: 33,374,682 (GRCm39)	R41S	probably benign	Het
Sptb	A	T	12: 76,630,153 (GRCm39)	M2279K	probably benign	Het
Srcap	T	G	7: 127,140,096 (GRCm39)		probably null	Het
Tctn3	A	G	19: 40,594,186 (GRCm39)	V409A	probably damaging	Het
Tg	A	C	15: 66,554,676 (GRCm39)	Q697P	probably damaging	Het
Tmem181a	A	G	17: 6,340,874 (GRCm39)	D141G	probably benign	Het
Tmem82	A	G	4: 141,341,963 (GRCm39)	S334P	probably benign	Het
Ubr4	A	G	4: 139,151,190 (GRCm39)	Y1875C	probably damaging	Het
Vmn1r63	C	A	7: 5,806,362 (GRCm39)	R90L	probably damaging	Het
Zfp330	A	C	8: 83,497,475 (GRCm39)	Y56D	probably damaging	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dennd6a	APN	14	26,329,768 (GRCm39)	missense	probably damaging	1.00
IGL01011:Dennd6a	APN	14	26,324,209 (GRCm39)	missense	probably damaging	0.99
IGL01395:Dennd6a	APN	14	26,338,056 (GRCm39)	nonsense	probably null
IGL01559:Dennd6a	APN	14	26,329,720 (GRCm39)	missense	probably damaging	1.00
IGL01590:Dennd6a	APN	14	26,340,507 (GRCm39)	missense	probably benign	0.40
IGL02187:Dennd6a	APN	14	26,328,081 (GRCm39)	missense	probably benign
IGL03296:Dennd6a	APN	14	26,338,115 (GRCm39)	critical splice donor site	probably null
R1831:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R1833:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R2020:Dennd6a	UTSW	14	26,333,158 (GRCm39)	missense	probably damaging	0.99
R2032:Dennd6a	UTSW	14	26,325,904 (GRCm39)	missense	probably benign	0.42
R2036:Dennd6a	UTSW	14	26,329,274 (GRCm39)	missense	probably damaging	0.99
R3707:Dennd6a	UTSW	14	26,313,546 (GRCm39)	splice site	probably benign
R4112:Dennd6a	UTSW	14	26,349,673 (GRCm39)	intron	probably benign
R5053:Dennd6a	UTSW	14	26,329,738 (GRCm39)	missense	probably damaging	1.00
R5760:Dennd6a	UTSW	14	26,333,195 (GRCm39)	missense	probably damaging	0.99
R5774:Dennd6a	UTSW	14	26,300,974 (GRCm39)	missense	probably benign
R5775:Dennd6a	UTSW	14	26,340,528 (GRCm39)	nonsense	probably null
R6238:Dennd6a	UTSW	14	26,337,813 (GRCm39)	critical splice donor site	probably null
R6446:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	1.00
R6734:Dennd6a	UTSW	14	26,329,774 (GRCm39)	missense	possibly damaging	0.84
R7289:Dennd6a	UTSW	14	26,333,193 (GRCm39)	missense	probably damaging	1.00
R7436:Dennd6a	UTSW	14	26,300,865 (GRCm39)	nonsense	probably null
R7887:Dennd6a	UTSW	14	26,320,812 (GRCm39)	missense	possibly damaging	0.50
R8348:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R8448:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R8847:Dennd6a	UTSW	14	26,327,086 (GRCm39)	missense	probably benign	0.19
R9102:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99
R9536:Dennd6a	UTSW	14	26,329,758 (GRCm39)	nonsense	probably null
R9745:Dennd6a	UTSW	14	26,320,818 (GRCm39)	missense	possibly damaging	0.94
RF003:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGAACTATAAGAAAGGAAGGCAA -3'
(R):5'- AGGAGAATGTTAGCTGTGCGTA -3'

Sequencing Primer
(F):5'- TTCAGAGCAAGCCTGGACTACTTG -3'
(R):5'- GTTAGACCTTGTACCCGCATGAG -3'

Posted On

2015-11-11