Mutagenetix > Incidental Mutation

Incidental Mutation 'R5774:Dennd6a'

445581

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

043373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R5774 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26300974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 62 (V62A)

Ref Sequence

ENSEMBL: ENSMUSP00000144906 (fasta)

Gene Model

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

AlphaFold

Q8BH65

Predicted Effect

probably benign
Transcript: ENSMUST00000037585
AA Change: V62A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: V62A

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

probably benign
Transcript: ENSMUST00000203874
AA Change: V62A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: V62A

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 benign
Transcript: ENSMUST00000224111

Predicted Effect

probably benign
Transcript: ENSMUST00000224248

Predicted Effect

probably benign
Transcript: ENSMUST00000224378

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	C	A	12: 18,581,668 (GRCm39)	L62M	probably damaging	Het
Abcc9	G	A	6: 142,574,285 (GRCm39)	T949I	probably damaging	Het
Adam4	C	T	12: 81,467,460 (GRCm39)	S387N	probably damaging	Het
Akap11	T	C	14: 78,748,407 (GRCm39)	S1327G	probably damaging	Het
Arhgap1	A	G	2: 91,484,453 (GRCm39)	T12A	possibly damaging	Het
Arhgap28	A	G	17: 68,188,487 (GRCm39)	S228P	possibly damaging	Het
Atp6v1b2	A	T	8: 69,554,613 (GRCm39)	D106V	probably damaging	Het
Atp9b	T	G	18: 80,977,147 (GRCm39)	D3A	probably damaging	Het
Bptf	A	G	11: 107,001,963 (GRCm39)	F383S	probably damaging	Het
Cdh24	T	C	14: 54,876,514 (GRCm39)	T104A	probably damaging	Het
Cep55	A	G	19: 38,051,103 (GRCm39)	E171G	probably damaging	Het
Cntrl	T	A	2: 35,052,873 (GRCm39)	M1126K	probably benign	Het
Cts3	A	T	13: 61,716,184 (GRCm39)	I59N	probably damaging	Het
Ddx52	A	G	11: 83,836,960 (GRCm39)	I150M	probably damaging	Het
Dpep1	C	A	8: 123,926,721 (GRCm39)	D211E	probably damaging	Het
Gm1527	T	C	3: 28,972,239 (GRCm39)	V452A	probably benign	Het
Hmcn2	T	C	2: 31,299,147 (GRCm39)	V2831A	possibly damaging	Het
Hrob	T	A	11: 102,146,495 (GRCm39)	I257N	possibly damaging	Het
Hydin	G	T	8: 111,298,547 (GRCm39)	E3722*	probably null	Het
Il17a	A	G	1: 20,803,997 (GRCm39)	S131G	probably benign	Het
Ing3	C	T	6: 21,967,688 (GRCm39)	P119S	probably benign	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lca5l	G	T	16: 95,977,261 (GRCm39)	Q177K	probably benign	Het
Lrrc61	C	T	6: 48,545,133 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,018,106 (GRCm39)	Y188C	probably damaging	Het
Mdk	T	C	2: 91,761,569 (GRCm39)	E36G	probably damaging	Het
Mmp12	T	C	9: 7,354,823 (GRCm39)	I272T	possibly damaging	Het
Myh4	A	T	11: 67,144,034 (GRCm39)	K1135*	probably null	Het
Nup188	T	A	2: 30,191,060 (GRCm39)	Y96N	probably damaging	Het
Or8k33	A	T	2: 86,384,351 (GRCm39)	V39E	possibly damaging	Het
Pank4	G	A	4: 155,065,119 (GRCm39)	G806D	probably damaging	Het
Parp14	T	C	16: 35,678,780 (GRCm39)	Y396C	probably damaging	Het
Pcdhb8	T	A	18: 37,489,738 (GRCm39)	I472N	probably damaging	Het
Sema3a	T	A	5: 13,573,131 (GRCm39)	W220R	probably damaging	Het
Slc35g3	A	G	11: 69,651,124 (GRCm39)	V309A	probably damaging	Het
Slc6a6	A	G	6: 91,721,981 (GRCm39)	M394V	probably damaging	Het
Specc1l	G	A	10: 75,081,234 (GRCm39)	R210H	probably damaging	Het
Spocd1	T	A	4: 129,845,579 (GRCm39)	S480T	probably benign	Het
Sptbn5	T	A	2: 119,880,939 (GRCm39)		noncoding transcript	Het
Srrm2	A	G	17: 24,037,249 (GRCm39)		probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Topbp1	A	G	9: 103,205,698 (GRCm39)	K779E	probably benign	Het
Trank1	T	A	9: 111,220,294 (GRCm39)	F2344I	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Ube4a	G	A	9: 44,864,395 (GRCm39)	P66L	probably damaging	Het
Utp6	A	T	11: 79,844,424 (GRCm39)	F200L	probably benign	Het
Vmn2r117	A	T	17: 23,696,176 (GRCm39)	H410Q	probably damaging	Het
Vps33b	C	T	7: 79,935,088 (GRCm39)	H344Y	probably benign	Het
Xpo5	C	T	17: 46,552,772 (GRCm39)	R1145*	probably null	Het
Zbed4	T	A	15: 88,665,852 (GRCm39)	F640Y	possibly damaging	Het
Zfp618	C	T	4: 63,050,799 (GRCm39)	R527C	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
R4728:Dennd6a	UTSW	14	26,348,575 (GRCm39)	missense	probably null	1.00
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
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'- AAAACCAGCAGGCCAGTCTG -3'
(R):5'- AGAACTTTTCACCCCTAGCCG -3'

Sequencing Primer
(F):5'- CGCGGCTTGTAGGGAAAC -3'
(R):5'- TAGCCGCAGCCCACGATC -3'

Posted On

2016-11-21