Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01395:Dennd6a'

79414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN/MADD domain containing 6A

Synonyms

A630054L15Rik, Fam116a

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL01395

Quality Score

Status

Chromosome

Chromosomal Location

26573856-26634322 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 26616901 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 175 (Y175*)

Ref Sequence

ENSEMBL: ENSMUSP00000153200 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000037585
AA Change: Y399*

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: Y399*

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 null
Transcript: ENSMUST00000203874
AA Change: Y399*

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: Y399*

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: Y175*

Predicted Effect

probably null
Transcript: ENSMUST00000224248
AA Change: Y175*

Predicted Effect

probably null
Transcript: ENSMUST00000224378
AA Change: Y175*

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	T	18: 67,442,810	R52H	probably benign	Het
Alg8	T	A	7: 97,378,176	Y84N	possibly damaging	Het
B3gnt4	T	A	5: 123,511,068	F165L	probably damaging	Het
Calcrl	T	C	2: 84,368,575	I157V	probably benign	Het
Clpx	T	C	9: 65,301,851	S83P	probably benign	Het
Col7a1	G	A	9: 108,983,912		probably benign	Het
Cttn	A	G	7: 144,457,727	V115A	probably damaging	Het
Dcaf1	G	A	9: 106,858,162	V770I	possibly damaging	Het
Ddx19a	A	G	8: 110,990,532		probably benign	Het
Dhx58	C	T	11: 100,703,926	G48D	probably damaging	Het
Dnah8	T	A	17: 30,636,005	F178I	probably benign	Het
Eif5b	T	C	1: 38,037,258	I629T	probably damaging	Het
Frrs1	A	G	3: 116,901,005	I492V	probably benign	Het
Gm16505	G	A	13: 3,361,242		noncoding transcript	Het
Golga4	G	A	9: 118,535,373	G259D	probably damaging	Het
Gpatch8	T	C	11: 102,480,708	H668R	unknown	Het
Gucy2c	G	T	6: 136,698,029	Q1019K	probably damaging	Het
Hivep2	T	C	10: 14,132,800		probably null	Het
Jph2	T	C	2: 163,339,927	N439S	probably benign	Het
Knl1	T	A	2: 119,071,566	D1249E	probably damaging	Het
Lrrc37a	A	G	11: 103,503,861	V246A	probably benign	Het
Mast1	T	C	8: 84,912,815	D1295G	possibly damaging	Het
Mical2	T	A	7: 112,323,585	M599K	probably damaging	Het
Nr3c2	T	C	8: 76,908,848	S193P	possibly damaging	Het
Nr4a2	T	A	2: 57,112,153	Q33L	probably damaging	Het
Nrap	A	T	19: 56,361,793	M514K	probably damaging	Het
Olfr1501	A	T	19: 13,838,952	S74T	probably damaging	Het
Olfr198	T	A	16: 59,202,097	T110S	possibly damaging	Het
Olfr412	T	C	11: 74,364,887	F73L	probably damaging	Het
Pde5a	T	C	3: 122,817,955	I514T	probably benign	Het
Plxna4	A	G	6: 32,239,433	V569A	probably damaging	Het
Ppm1k	T	C	6: 57,513,958	H324R	probably benign	Het
Prdm5	A	G	6: 65,870,390	H155R	possibly damaging	Het
Prpf19	C	T	19: 10,901,011	T287I	probably damaging	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Pygb	C	A	2: 150,801,583	Q97K	probably benign	Het
Rab27b	T	C	18: 69,985,217	K210E	probably benign	Het
Rttn	T	G	18: 89,129,770	N2182K	possibly damaging	Het
Rusc1	T	C	3: 89,092,421	Q18R	probably damaging	Het
Stat4	C	T	1: 52,011,874	R31W	probably damaging	Het
Tas2r135	T	A	6: 42,405,912	C128*	probably null	Het
Tm9sf3	T	C	19: 41,256,276	E54G	probably damaging	Het
Tmx1	A	T	12: 70,460,477		probably null	Het
Tnrc6c	T	A	11: 117,723,113	V859E	probably benign	Het
Uggt1	T	C	1: 36,155,077	D1360G	probably damaging	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dennd6a	APN	14	26608613	missense	probably damaging	1.00
IGL01011:Dennd6a	APN	14	26603054	missense	probably damaging	0.99
IGL01559:Dennd6a	APN	14	26608565	missense	probably damaging	1.00
IGL01590:Dennd6a	APN	14	26619352	missense	probably benign	0.40
IGL02187:Dennd6a	APN	14	26606926	missense	probably benign
IGL03296:Dennd6a	APN	14	26616960	critical splice donor site	probably null
R1831:Dennd6a	UTSW	14	26606954	missense	probably damaging	1.00
R1833:Dennd6a	UTSW	14	26606954	missense	probably damaging	1.00
R2020:Dennd6a	UTSW	14	26612003	missense	probably damaging	0.99
R2032:Dennd6a	UTSW	14	26604749	missense	probably benign	0.42
R2036:Dennd6a	UTSW	14	26608119	missense	probably damaging	0.99
R3707:Dennd6a	UTSW	14	26592391	splice site	probably benign
R4112:Dennd6a	UTSW	14	26628518	intron	probably benign
R4728:Dennd6a	UTSW	14	26627420	missense	probably null	1.00
R5053:Dennd6a	UTSW	14	26608583	missense	probably damaging	1.00
R5760:Dennd6a	UTSW	14	26612040	missense	probably damaging	0.99
R5774:Dennd6a	UTSW	14	26579819	missense	probably benign
R5775:Dennd6a	UTSW	14	26619373	nonsense	probably null
R6238:Dennd6a	UTSW	14	26616658	critical splice donor site	probably null
R6446:Dennd6a	UTSW	14	26629534	missense	probably damaging	1.00
R6734:Dennd6a	UTSW	14	26608619	missense	possibly damaging	0.84
R7289:Dennd6a	UTSW	14	26612038	missense	probably damaging	1.00
R7436:Dennd6a	UTSW	14	26579710	nonsense	probably null
R7887:Dennd6a	UTSW	14	26599657	missense	possibly damaging	0.50
R8348:Dennd6a	UTSW	14	26606943	missense	possibly damaging	0.87
R8448:Dennd6a	UTSW	14	26606943	missense	possibly damaging	0.87
RF003:Dennd6a	UTSW	14	26629534	missense	probably damaging	0.99

Posted On

2013-11-05