Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00427:Dennd6a'

5899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

Accession Numbers

Essential gene?

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

Stock #

IGL00427

Quality Score

Status

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26329768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 113 (T113I)

Ref Sequence

ENSEMBL: ENSMUSP00000152966 (fasta)

Gene Model

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

AlphaFold

Q8BH65

Predicted Effect

probably damaging
Transcript: ENSMUST00000037585
AA Change: T337I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: T337I

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 damaging
Transcript: ENSMUST00000203874
AA Change: T337I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: T337I

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 damaging
Transcript: ENSMUST00000224111
AA Change: T113I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224248
AA Change: T113I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000224378
AA Change: T113I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225206

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	A	G	12: 4,244,357 (GRCm39)	D289G	probably damaging	Het
Adnp	C	T	2: 168,024,482 (GRCm39)	D938N	probably benign	Het
Arpin	T	A	7: 79,577,423 (GRCm39)	N208I	probably benign	Het
Cby3	A	G	11: 50,248,638 (GRCm39)		probably benign	Het
Cmklr2	A	T	1: 63,222,497 (GRCm39)	I246N	probably damaging	Het
Cnih4	T	A	1: 180,981,312 (GRCm39)	S28T	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,558 (GRCm39)	V97L	possibly damaging	Het
Dchs1	T	C	7: 105,407,631 (GRCm39)	E2067G	probably damaging	Het
Dock4	T	A	12: 40,882,305 (GRCm39)	F1590L	possibly damaging	Het
Dop1a	G	T	9: 86,403,553 (GRCm39)	Q1582H	probably benign	Het
Dop1a	A	T	9: 86,403,552 (GRCm39)	Q1582L	probably damaging	Het
Dop1a	C	A	9: 86,403,551 (GRCm39)	Q1582K	possibly damaging	Het
Ebna1bp2	A	T	4: 118,483,018 (GRCm39)	K291M	probably damaging	Het
Evpl	G	T	11: 116,125,331 (GRCm39)	Q73K	probably benign	Het
Fam131b	G	T	6: 42,295,895 (GRCm39)	T139K	probably damaging	Het
Golga3	A	G	5: 110,368,753 (GRCm39)	T1358A	probably damaging	Het
Hgf	G	A	5: 16,783,484 (GRCm39)	D265N	probably benign	Het
Homer1	A	G	13: 93,538,622 (GRCm39)	N333S	probably benign	Het
Igkv17-134	A	T	6: 67,697,968 (GRCm39)		probably benign	Het
Il16	T	C	7: 83,301,666 (GRCm39)	D152G	probably benign	Het
Ireb2	T	C	9: 54,806,766 (GRCm39)		probably benign	Het
Itgb2	C	T	10: 77,393,790 (GRCm39)	T410I	probably benign	Het
Kctd14	C	A	7: 97,106,919 (GRCm39)	A111E	possibly damaging	Het
Lmod3	A	C	6: 97,229,258 (GRCm39)	V92G	probably damaging	Het
Lmtk2	A	G	5: 144,070,973 (GRCm39)	D83G	probably damaging	Het
Myh1	A	G	11: 67,111,691 (GRCm39)	E1682G	probably damaging	Het
Myo9a	T	A	9: 59,750,342 (GRCm39)		probably benign	Het
Nlrc4	T	C	17: 74,754,087 (GRCm39)	N99D	probably benign	Het
P2rx3	A	G	2: 84,865,616 (GRCm39)	Y10H	probably damaging	Het
Pcsk7	C	A	9: 45,838,958 (GRCm39)	D623E	probably benign	Het
Plxna1	A	G	6: 89,297,980 (GRCm39)	I1766T	probably damaging	Het
Ptk7	T	C	17: 46,885,353 (GRCm39)	Y691C	probably damaging	Het
Rec8	A	T	14: 55,856,108 (GRCm39)	T17S	probably damaging	Het
Rtraf-ps	A	C	3: 88,484,230 (GRCm39)		probably benign	Het
Ryr1	T	C	7: 28,804,162 (GRCm39)		probably benign	Het
Scg3	T	G	9: 75,570,519 (GRCm39)	K345T	probably damaging	Het
Serpina3b	A	T	12: 104,099,200 (GRCm39)	K238N	probably benign	Het
Slc38a9	T	A	13: 112,838,152 (GRCm39)	S306T	probably damaging	Het
Txndc16	A	G	14: 45,382,547 (GRCm39)		probably benign	Het
Vmn1r238	T	A	18: 3,123,243 (GRCm39)	Y57F	probably benign	Het
Vmn2r104	A	T	17: 20,258,501 (GRCm39)	S548T	probably damaging	Het
Xrcc1	T	A	7: 24,247,309 (GRCm39)		probably null	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20