Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00510:Dennd1b'

7362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dennd1b

Ensembl Gene

ENSMUSG00000056268

Gene Name

DENN domain containing 1B

Synonyms

F730008N07Rik, 4632404N19Rik, 4930467M19Rik, 6820401H01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00510

Quality Score

Status

Chromosome

Chromosomal Location

138891447-139103781 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139029809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 322 (R322L)

Ref Sequence

ENSEMBL: ENSMUSP00000127580 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094505] [ENSMUST00000168527] [ENSMUST00000200429]

AlphaFold

Q3U1T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000094505
AA Change: R247L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092082
Gene: ENSMUSG00000056268
AA Change: R247L

Domain	Start	End	E-Value	Type
DENN	15	196	1.14e-74	SMART
dDENN	227	293	1.07e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168527
AA Change: R322L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127580
Gene: ENSMUSG00000056268
AA Change: R322L

Domain	Start	End	E-Value	Type
uDENN	9	89	7.86e-28	SMART
DENN	90	271	1.14e-74	SMART
dDENN	302	368	1.07e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198418

Predicted Effect

probably damaging
Transcript: ENSMUST00000200429
AA Change: R322L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143783
Gene: ENSMUSG00000056268
AA Change: R322L

Domain	Start	End	E-Value	Type
uDENN	9	89	3.2e-31	SMART
DENN	90	271	4.8e-78	SMART
low complexity region	307	318	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1B, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous KO results in enhanced allergic responses to aerosolized antigen challenges caused by delayed TCR down-modulation following receptor activation in T helper 2 cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,995,668 (GRCm39)	N357S	probably damaging	Het
Akap4	A	G	X: 6,942,863 (GRCm39)	T389A	probably damaging	Het
Aldh3a1	A	G	11: 61,104,422 (GRCm39)	E103G	probably damaging	Het
Aldh3b3	C	A	19: 4,015,863 (GRCm39)	Q278K	probably benign	Het
Ap3m2	A	T	8: 23,287,243 (GRCm39)		probably null	Het
Asxl3	G	T	18: 22,656,622 (GRCm39)	C1544F	probably damaging	Het
Chd7	A	G	4: 8,801,404 (GRCm39)	D716G	probably damaging	Het
Dnah7a	C	T	1: 53,540,701 (GRCm39)	V2558M	probably damaging	Het
Fbp2	T	C	13: 62,989,698 (GRCm39)	I203V	possibly damaging	Het
Gnai1	T	A	5: 18,496,617 (GRCm39)	D102V	probably benign	Het
Gtf2h1	C	T	7: 46,468,634 (GRCm39)	T524I	possibly damaging	Het
Hinfp	G	A	9: 44,209,063 (GRCm39)	R352C	probably damaging	Het
Lpin1	G	A	12: 16,603,993 (GRCm39)	H613Y	probably benign	Het
Med29	C	T	7: 28,090,266 (GRCm39)	A110T	possibly damaging	Het
Myo9a	T	C	9: 59,739,464 (GRCm39)		probably benign	Het
Nlgn1	G	T	3: 25,490,654 (GRCm39)	P329T	probably benign	Het
Osmr	G	T	15: 6,853,112 (GRCm39)	Y593*	probably null	Het
Otx2	T	C	14: 48,896,192 (GRCm39)	T289A	probably benign	Het
Pkn2	T	C	3: 142,504,780 (GRCm39)	T799A	probably damaging	Het
Plcb1	T	A	2: 135,093,676 (GRCm39)	V163D	possibly damaging	Het
Rgs3	G	A	4: 62,619,417 (GRCm39)	A501T	possibly damaging	Het
Rnf103	T	C	6: 71,486,733 (GRCm39)	S455P	probably damaging	Het
Slc9c1	A	G	16: 45,360,002 (GRCm39)	T19A	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spryd7	T	A	14: 61,783,190 (GRCm39)	N111Y	probably damaging	Het
Zfp687	A	G	3: 94,915,758 (GRCm39)	S1005P	probably damaging	Het

Other mutations in Dennd1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Dennd1b	APN	1	138,990,678 (GRCm39)	missense	probably damaging	1.00
IGL00671:Dennd1b	APN	1	139,061,475 (GRCm39)	missense	possibly damaging	0.94
IGL00937:Dennd1b	APN	1	139,097,977 (GRCm39)	missense	probably benign	0.01
IGL00959:Dennd1b	APN	1	139,071,626 (GRCm39)	splice site	probably benign
IGL01446:Dennd1b	APN	1	138,950,848 (GRCm39)	missense	possibly damaging	0.61
IGL01610:Dennd1b	APN	1	139,097,504 (GRCm39)	utr 3 prime	probably benign
IGL02275:Dennd1b	APN	1	139,008,992 (GRCm39)	missense	probably damaging	1.00
IGL02851:Dennd1b	APN	1	139,096,705 (GRCm39)	utr 3 prime	probably benign
IGL02995:Dennd1b	APN	1	139,008,980 (GRCm39)	missense	probably damaging	1.00
IGL03089:Dennd1b	APN	1	139,029,767 (GRCm39)	missense	possibly damaging	0.94
IGL03240:Dennd1b	APN	1	139,067,130 (GRCm39)	missense	possibly damaging	0.63
IGL03267:Dennd1b	APN	1	138,990,599 (GRCm39)	nonsense	probably null
Dendrite	UTSW	1	138,981,155 (GRCm39)	critical splice donor site	probably null
LCD18:Dennd1b	UTSW	1	139,042,502 (GRCm39)	intron	probably benign
PIT4418001:Dennd1b	UTSW	1	139,008,999 (GRCm39)	missense
PIT4504001:Dennd1b	UTSW	1	138,967,742 (GRCm39)	missense	probably benign	0.28
R0426:Dennd1b	UTSW	1	139,097,934 (GRCm39)	missense	probably benign
R0445:Dennd1b	UTSW	1	139,095,503 (GRCm39)	splice site	probably benign
R0497:Dennd1b	UTSW	1	138,967,724 (GRCm39)	splice site	probably benign
R0627:Dennd1b	UTSW	1	139,008,957 (GRCm39)	missense	probably damaging	1.00
R1027:Dennd1b	UTSW	1	138,969,700 (GRCm39)	missense	probably damaging	1.00
R1599:Dennd1b	UTSW	1	139,095,468 (GRCm39)	missense	probably benign	0.01
R1703:Dennd1b	UTSW	1	139,097,492 (GRCm39)	critical splice acceptor site	probably null
R1844:Dennd1b	UTSW	1	139,018,143 (GRCm39)	splice site	probably null
R1943:Dennd1b	UTSW	1	139,096,690 (GRCm39)	utr 3 prime	probably benign
R2504:Dennd1b	UTSW	1	139,097,908 (GRCm39)	utr 3 prime	probably benign
R2866:Dennd1b	UTSW	1	139,098,019 (GRCm39)	missense	possibly damaging	0.58
R3109:Dennd1b	UTSW	1	138,969,654 (GRCm39)	splice site	probably benign
R3843:Dennd1b	UTSW	1	138,981,092 (GRCm39)	missense	probably damaging	1.00
R3926:Dennd1b	UTSW	1	139,071,697 (GRCm39)	missense	probably benign	0.00
R4258:Dennd1b	UTSW	1	138,990,678 (GRCm39)	missense	probably damaging	1.00
R4504:Dennd1b	UTSW	1	139,013,665 (GRCm39)	missense	possibly damaging	0.82
R4805:Dennd1b	UTSW	1	138,981,122 (GRCm39)	missense	probably damaging	1.00
R4922:Dennd1b	UTSW	1	139,013,652 (GRCm39)	missense	probably damaging	0.99
R4954:Dennd1b	UTSW	1	138,981,124 (GRCm39)	missense	probably damaging	1.00
R5098:Dennd1b	UTSW	1	139,061,459 (GRCm39)	missense	probably damaging	0.97
R5205:Dennd1b	UTSW	1	138,982,306 (GRCm39)	missense	probably benign	0.00
R5240:Dennd1b	UTSW	1	138,990,615 (GRCm39)	missense	probably damaging	1.00
R5383:Dennd1b	UTSW	1	139,095,409 (GRCm39)	missense	probably benign
R5504:Dennd1b	UTSW	1	139,018,246 (GRCm39)	missense	probably benign	0.07
R5702:Dennd1b	UTSW	1	139,061,413 (GRCm39)	missense	probably damaging	1.00
R5801:Dennd1b	UTSW	1	138,967,727 (GRCm39)	splice site	probably null
R6144:Dennd1b	UTSW	1	139,008,993 (GRCm39)	missense	probably damaging	1.00
R6190:Dennd1b	UTSW	1	139,061,413 (GRCm39)	missense	probably damaging	1.00
R6192:Dennd1b	UTSW	1	139,095,456 (GRCm39)	missense	probably benign	0.00
R6289:Dennd1b	UTSW	1	139,096,683 (GRCm39)	utr 3 prime	probably benign
R6453:Dennd1b	UTSW	1	139,071,686 (GRCm39)	missense	probably benign	0.07
R6479:Dennd1b	UTSW	1	138,969,698 (GRCm39)	intron	probably benign
R6940:Dennd1b	UTSW	1	138,981,155 (GRCm39)	critical splice donor site	probably null
R6954:Dennd1b	UTSW	1	139,096,683 (GRCm39)	utr 3 prime	probably benign
R7183:Dennd1b	UTSW	1	139,097,990 (GRCm39)	missense	unknown
R7710:Dennd1b	UTSW	1	138,990,670 (GRCm39)	missense	probably damaging	1.00
R7742:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7796:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7871:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7920:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7921:Dennd1b	UTSW	1	138,990,611 (GRCm39)	missense	probably damaging	1.00
R7991:Dennd1b	UTSW	1	139,013,634 (GRCm39)	missense
R8025:Dennd1b	UTSW	1	139,038,158 (GRCm39)	missense
R8239:Dennd1b	UTSW	1	138,969,673 (GRCm39)	missense	probably benign	0.02
R8526:Dennd1b	UTSW	1	138,950,858 (GRCm39)	nonsense	probably null
R8532:Dennd1b	UTSW	1	139,097,912 (GRCm39)	utr 3 prime	probably benign
R8691:Dennd1b	UTSW	1	138,969,774 (GRCm39)	missense	possibly damaging	0.93
R9229:Dennd1b	UTSW	1	138,981,100 (GRCm39)	nonsense	probably null
R9577:Dennd1b	UTSW	1	139,018,196 (GRCm39)	missense
RF008:Dennd1b	UTSW	1	138,981,135 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20