Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02813:Dennd11'

360678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd11

Ensembl Gene

ENSMUSG00000037172

Gene Name

DENN domain containing 11

Synonyms

E330009J07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

IGL02813

Quality Score

Status

Chromosome

Chromosomal Location

40378309-40413069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40395473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 212 (V212I)

Ref Sequence

ENSEMBL: ENSMUSP00000099031 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039008] [ENSMUST00000101492] [ENSMUST00000201712]

AlphaFold

Q3UHG7

Predicted Effect

probably benign
Transcript: ENSMUST00000039008
AA Change: V212I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045103
Gene: ENSMUSG00000037172
AA Change: V212I

Domain	Start	End	E-Value	Type
low complexity region	30	60	N/A	INTRINSIC
Pfam:DUF2347	80	347	3.4e-79	PFAM
Pfam:SPA	234	345	5.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101492
AA Change: V212I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099031
Gene: ENSMUSG00000037172
AA Change: V212I

Domain	Start	End	E-Value	Type
low complexity region	30	60	N/A	INTRINSIC
Pfam:DUF2347	80	347	3.2e-78	PFAM
Pfam:SPA	234	345	6.3e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200994

Predicted Effect

probably benign
Transcript: ENSMUST00000201712

SMART Domains

Protein: ENSMUSP00000143916
Gene: ENSMUSG00000037172

Domain	Start	End	E-Value	Type
Pfam:DUF2347	15	133	1.4e-29	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	A	11: 7,096,591 (GRCm39)	Q660K	possibly damaging	Het
Arhgap5	A	C	12: 52,563,748 (GRCm39)	T240P	probably benign	Het
Arhgef7	C	T	8: 11,850,767 (GRCm39)		probably benign	Het
Cttnbp2	C	A	6: 18,367,537 (GRCm39)	V1594F	possibly damaging	Het
Cyp2a22	G	T	7: 26,635,859 (GRCm39)	Q235K	probably benign	Het
Dynlt5	A	G	4: 102,849,769 (GRCm39)	N64S	probably damaging	Het
Ecm1	G	A	3: 95,644,098 (GRCm39)	P169S	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Ern1	T	C	11: 106,314,251 (GRCm39)	D183G	probably damaging	Het
Gpat2	T	C	2: 127,276,375 (GRCm39)	V635A	possibly damaging	Het
Gria1	A	G	11: 57,174,410 (GRCm39)	N564S	probably damaging	Het
Grtp1	A	C	8: 13,236,945 (GRCm39)	I173S	possibly damaging	Het
Hsd17b4	A	G	18: 50,261,415 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,569,229 (GRCm39)		probably null	Het
Mark4	A	T	7: 19,181,181 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,453,691 (GRCm39)	D207G	probably benign	Het
Mrgprd	A	G	7: 144,875,251 (GRCm39)	M41V	probably benign	Het
Myo1g	T	C	11: 6,468,743 (GRCm39)	*66W	probably null	Het
Neto2	C	A	8: 86,417,515 (GRCm39)	D30Y	probably benign	Het
Nlrp6	A	T	7: 140,503,333 (GRCm39)	I450F	possibly damaging	Het
Nup155	T	A	15: 8,159,605 (GRCm39)		probably benign	Het
Or4c11c	A	G	2: 88,661,495 (GRCm39)	I11M	probably benign	Het
Pcdhb10	T	G	18: 37,546,815 (GRCm39)	S630R	possibly damaging	Het
Rwdd4a	T	C	8: 47,990,396 (GRCm39)		probably null	Het
Slc12a7	T	A	13: 73,961,795 (GRCm39)		probably benign	Het
Slc22a20	C	T	19: 6,034,886 (GRCm39)	V192I	probably benign	Het
Slc9a2	T	A	1: 40,781,829 (GRCm39)	S353T	probably damaging	Het
Srgap3	A	G	6: 112,708,441 (GRCm39)	F753L	probably damaging	Het
Tcea1	C	T	1: 4,956,979 (GRCm39)	T93I	probably benign	Het
Tecpr2	A	T	12: 110,899,626 (GRCm39)	S665C	probably damaging	Het
Tor4a	C	A	2: 25,084,761 (GRCm39)	E381*	probably null	Het
Vdr	A	G	15: 97,767,562 (GRCm39)	Y143H	probably benign	Het
Vmn2r91	A	C	17: 18,356,348 (GRCm39)	T672P	possibly damaging	Het
Wdr41	A	G	13: 95,131,753 (GRCm39)		probably null	Het

Other mutations in Dennd11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03143:Dennd11	APN	6	40,399,828 (GRCm39)	splice site	probably benign
R1812:Dennd11	UTSW	6	40,386,365 (GRCm39)	missense	probably benign	0.02
R1928:Dennd11	UTSW	6	40,388,648 (GRCm39)	missense	probably benign	0.14
R2443:Dennd11	UTSW	6	40,383,710 (GRCm39)	missense	probably damaging	0.99
R3012:Dennd11	UTSW	6	40,412,926 (GRCm39)	missense	probably benign
R6913:Dennd11	UTSW	6	40,383,851 (GRCm39)	missense	possibly damaging	0.91
R7318:Dennd11	UTSW	6	40,386,098 (GRCm39)	missense	possibly damaging	0.72
R7456:Dennd11	UTSW	6	40,383,774 (GRCm39)	missense	probably benign	0.33
R8087:Dennd11	UTSW	6	40,395,526 (GRCm39)	missense	possibly damaging	0.94
R8231:Dennd11	UTSW	6	40,395,546 (GRCm39)	missense	probably benign	0.35
R8776:Dennd11	UTSW	6	40,395,775 (GRCm39)	intron	probably benign
R8858:Dennd11	UTSW	6	40,399,669 (GRCm39)	missense	probably benign	0.02
Y4340:Dennd11	UTSW	6	40,412,992 (GRCm39)	missense	probably benign

Posted On

2015-12-18