Mutagenetix > Incidental Mutation

Incidental Mutation 'R2570:Dennd1a'

252316

Institutional Source

Beutler Lab

Gene Symbol

Dennd1a

Ensembl Gene

ENSMUSG00000035392

Gene Name

DENN domain containing 1A

Synonyms

6030446I19Rik

MMRRC Submission

040428-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R2570 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37689003-38177402 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37734795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 57 (F57L)

Ref Sequence

ENSEMBL: ENSMUSP00000115527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102787] [ENSMUST00000136460] [ENSMUST00000140552]

AlphaFold

Q8K382

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102787
AA Change: F494L

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099848
Gene: ENSMUSG00000035392
AA Change: F494L

Domain	Start	End	E-Value	Type
uDENN	9	91	1.44e-26	SMART
DENN	92	273	2.09e-73	SMART
dDENN	304	371	1.37e-18	SMART
low complexity region	497	508	N/A	INTRINSIC
low complexity region	689	702	N/A	INTRINSIC
low complexity region	747	761	N/A	INTRINSIC
low complexity region	772	786	N/A	INTRINSIC
low complexity region	801	815	N/A	INTRINSIC
low complexity region	822	856	N/A	INTRINSIC
low complexity region	952	972	N/A	INTRINSIC
low complexity region	991	1004	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000136460
AA Change: F57L

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

SMART Domains

Protein: ENSMUSP00000115527
Gene: ENSMUSG00000035392
AA Change: F57L

Domain	Start	End	E-Value	Type
low complexity region	60	71	N/A	INTRINSIC
low complexity region	102	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140552

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

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 DENND1A, 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]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,768,267 (GRCm39)	N763I	probably damaging	Het
Actr8	T	C	14: 29,709,239 (GRCm39)	V281A	probably damaging	Het
Adam1b	A	T	5: 121,639,811 (GRCm39)	N411K	probably damaging	Het
Adamdec1	T	A	14: 68,816,657 (GRCm39)	Q77L	probably damaging	Het
Adgre4	T	A	17: 56,085,878 (GRCm39)	F59Y	possibly damaging	Het
Akr1c18	T	C	13: 4,192,163 (GRCm39)	N178S	probably benign	Het
Aldh1a7	T	A	19: 20,677,320 (GRCm39)	T434S	probably benign	Het
Bcl10	T	A	3: 145,638,785 (GRCm39)	N142K	probably benign	Het
C1qc	T	C	4: 136,617,402 (GRCm39)	I231M	probably benign	Het
Cacna1b	A	T	2: 24,496,649 (GRCm39)	L2307*	probably null	Het
Cadm2	G	A	16: 66,612,271 (GRCm39)	S106L	probably damaging	Het
Cdc42bpa	G	A	1: 179,977,742 (GRCm39)	R1518Q	possibly damaging	Het
Cdk12	T	G	11: 98,094,618 (GRCm39)	M142R	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cspg4b	C	T	13: 113,455,121 (GRCm39)	T389I	probably benign	Het
Cyp2c50	C	G	19: 40,078,764 (GRCm39)	H90D	probably benign	Het
Dach1	A	G	14: 98,138,847 (GRCm39)	M480T	probably benign	Het
Dhcr24	T	C	4: 106,443,029 (GRCm39)	F355L	probably benign	Het
Drc1	A	G	5: 30,512,609 (GRCm39)	R339G	probably damaging	Het
Efcab3	T	A	11: 104,624,490 (GRCm39)	S840R	probably damaging	Het
Efna5	A	T	17: 63,188,023 (GRCm39)	Y35N	probably benign	Het
Ehmt1	A	G	2: 24,705,753 (GRCm39)	V811A	probably damaging	Het
Fam135a	A	T	1: 24,061,045 (GRCm39)	V1114E	probably damaging	Het
Frmd8	C	A	19: 5,924,740 (GRCm39)	R28L	probably damaging	Het
Gm9936	A	G	5: 114,995,605 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Itgal	T	C	7: 126,913,268 (GRCm39)	F622L	probably damaging	Het
Kalrn	C	T	16: 34,130,865 (GRCm39)	E451K	probably damaging	Het
Kat2a	A	T	11: 100,601,648 (GRCm39)	F256I	probably damaging	Het
Lama4	A	T	10: 38,951,354 (GRCm39)	D1033V	possibly damaging	Het
Lama4	T	A	10: 38,982,043 (GRCm39)	D1757E	probably damaging	Het
Laptm5	T	C	4: 130,659,358 (GRCm39)	Y212H	probably damaging	Het
Lsm10	T	C	4: 125,991,716 (GRCm39)	L24P	probably damaging	Het
Mtcl3	A	T	10: 29,022,761 (GRCm39)	Q36L	possibly damaging	Het
Mtfp1	T	C	11: 4,044,504 (GRCm39)	E27G	probably damaging	Het
Ncaph2	C	A	15: 89,254,678 (GRCm39)	D399E	probably benign	Het
Ncor2	T	C	5: 125,105,864 (GRCm39)		probably null	Het
Nek9	A	C	12: 85,379,320 (GRCm39)	Y195*	probably null	Het
Npas1	T	C	7: 16,208,628 (GRCm39)	D83G	probably damaging	Het
Nrsn2	A	T	2: 152,211,741 (GRCm39)	F97I	possibly damaging	Het
Oas1c	T	C	5: 120,943,503 (GRCm39)	N10S	probably benign	Het
Or2ag12	A	G	7: 106,276,874 (GRCm39)	I273T	probably benign	Het
Or55b10	T	C	7: 102,143,106 (GRCm39)	N292S	probably damaging	Het
Or7e165	T	A	9: 19,695,305 (GRCm39)	L292Q	probably damaging	Het
Pcdha4	A	T	18: 37,086,665 (GRCm39)	T283S	probably benign	Het
Pdk1	A	C	2: 71,703,904 (GRCm39)	D64A	possibly damaging	Het
Pramel17	T	C	4: 101,694,443 (GRCm39)	T147A	probably benign	Het
Ptpdc1	C	T	13: 48,739,539 (GRCm39)	A631T	probably benign	Het
Rasal2	G	T	1: 156,988,870 (GRCm39)	A660E	possibly damaging	Het
Sgpp2	T	A	1: 78,336,787 (GRCm39)	V55E	possibly damaging	Het
Shank2	A	T	7: 143,622,507 (GRCm39)	I214F	probably damaging	Het
Slfn14	T	C	11: 83,174,433 (GRCm39)	N186S	probably benign	Het
Sptbn5	A	T	2: 119,879,121 (GRCm39)		noncoding transcript	Het
Stradb	C	T	1: 59,027,743 (GRCm39)	T91I	probably damaging	Het
Sulf2	T	C	2: 165,927,721 (GRCm39)	I359V	probably benign	Het
Tbl3	A	T	17: 24,922,290 (GRCm39)	M405K	possibly damaging	Het
Tecta	G	T	9: 42,243,848 (GRCm39)	D2001E	probably damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tgfbi	T	A	13: 56,786,521 (GRCm39)		probably null	Het
Tmem132a	A	T	19: 10,837,106 (GRCm39)	L612Q	probably null	Het
Tnf	T	C	17: 35,419,476 (GRCm39)	N102S	probably damaging	Het
Trib3	A	T	2: 152,185,156 (GRCm39)	V31D	probably benign	Het
Ube2q2	T	A	9: 55,099,140 (GRCm39)	F248L	probably benign	Het
Usf3	T	C	16: 44,036,744 (GRCm39)	V408A	probably benign	Het
Vmn1r159	T	C	7: 22,542,307 (GRCm39)	M242V	probably benign	Het
Vmn2r105	A	T	17: 20,447,585 (GRCm39)	L413H	probably damaging	Het
Zbtb2	T	G	10: 4,318,673 (GRCm39)	N451T	probably damaging	Het
Zfp593	C	A	4: 133,972,869 (GRCm39)		probably benign	Het

Other mutations in Dennd1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd1a	APN	2	38,133,454 (GRCm39)	nonsense	probably null
IGL00490:Dennd1a	APN	2	37,691,164 (GRCm39)	missense	probably damaging	1.00
IGL00839:Dennd1a	APN	2	37,706,994 (GRCm39)	missense	probably benign	0.30
IGL01065:Dennd1a	APN	2	37,734,917 (GRCm39)	missense	probably benign	0.02
IGL01621:Dennd1a	APN	2	37,734,821 (GRCm39)	missense	probably damaging	1.00
IGL01792:Dennd1a	APN	2	38,016,592 (GRCm39)	missense	probably damaging	1.00
IGL01799:Dennd1a	APN	2	37,938,754 (GRCm39)	missense	probably damaging	1.00
IGL02516:Dennd1a	APN	2	37,742,406 (GRCm39)	critical splice donor site	probably null
contract	UTSW	2	37,742,453 (GRCm39)	missense	possibly damaging	0.89
R0018:Dennd1a	UTSW	2	37,748,472 (GRCm39)	missense	possibly damaging	0.72
R0018:Dennd1a	UTSW	2	37,748,472 (GRCm39)	missense	possibly damaging	0.72
R0144:Dennd1a	UTSW	2	38,016,652 (GRCm39)	missense	probably damaging	0.96
R0784:Dennd1a	UTSW	2	37,911,426 (GRCm39)	missense	probably damaging	1.00
R1199:Dennd1a	UTSW	2	37,851,728 (GRCm39)	missense	probably damaging	0.99
R1439:Dennd1a	UTSW	2	37,933,412 (GRCm39)	missense	probably damaging	1.00
R1563:Dennd1a	UTSW	2	37,748,441 (GRCm39)	missense	probably damaging	1.00
R1608:Dennd1a	UTSW	2	37,742,446 (GRCm39)	missense	probably benign	0.18
R1720:Dennd1a	UTSW	2	37,690,209 (GRCm39)	nonsense	probably null
R1967:Dennd1a	UTSW	2	37,734,845 (GRCm39)	missense	probably benign
R3886:Dennd1a	UTSW	2	37,748,089 (GRCm39)	missense	possibly damaging	0.89
R4464:Dennd1a	UTSW	2	38,133,402 (GRCm39)	splice site	probably benign
R4890:Dennd1a	UTSW	2	38,066,238 (GRCm39)	intron	probably benign
R5395:Dennd1a	UTSW	2	37,692,140 (GRCm39)	missense	probably damaging	1.00
R5652:Dennd1a	UTSW	2	37,691,138 (GRCm39)	missense	probably benign	0.00
R5882:Dennd1a	UTSW	2	37,851,675 (GRCm39)	missense	probably damaging	1.00
R6285:Dennd1a	UTSW	2	37,742,453 (GRCm39)	missense	possibly damaging	0.89
R6520:Dennd1a	UTSW	2	37,851,759 (GRCm39)	splice site	probably null
R6934:Dennd1a	UTSW	2	37,691,225 (GRCm39)	missense	possibly damaging	0.62
R7053:Dennd1a	UTSW	2	37,851,666 (GRCm39)	missense	probably damaging	1.00
R7109:Dennd1a	UTSW	2	37,938,804 (GRCm39)	missense	probably damaging	1.00
R7204:Dennd1a	UTSW	2	37,929,215 (GRCm39)	missense	probably damaging	1.00
R7235:Dennd1a	UTSW	2	37,691,073 (GRCm39)	missense	probably benign
R7408:Dennd1a	UTSW	2	37,742,184 (GRCm39)	splice site	probably null
R7446:Dennd1a	UTSW	2	37,706,991 (GRCm39)	missense	possibly damaging	0.89
R7579:Dennd1a	UTSW	2	37,748,444 (GRCm39)	missense	probably damaging	0.99
R7645:Dennd1a	UTSW	2	37,911,375 (GRCm39)	missense	probably damaging	1.00
R7661:Dennd1a	UTSW	2	37,734,841 (GRCm39)	missense	probably benign
R8132:Dennd1a	UTSW	2	37,748,072 (GRCm39)	missense	probably damaging	1.00
R8305:Dennd1a	UTSW	2	37,748,093 (GRCm39)	missense	probably damaging	1.00
R8369:Dennd1a	UTSW	2	37,938,766 (GRCm39)	missense	probably damaging	1.00
R8418:Dennd1a	UTSW	2	37,748,403 (GRCm39)	missense	probably benign	0.36
R8438:Dennd1a	UTSW	2	37,746,150 (GRCm39)	missense	probably benign	0.08
R8544:Dennd1a	UTSW	2	37,872,920 (GRCm39)	splice site	probably null
R8997:Dennd1a	UTSW	2	37,690,497 (GRCm39)	missense	probably benign	0.14
R9052:Dennd1a	UTSW	2	37,911,463 (GRCm39)	missense	probably damaging	1.00
R9087:Dennd1a	UTSW	2	37,911,366 (GRCm39)	critical splice donor site	probably null
R9096:Dennd1a	UTSW	2	37,690,077 (GRCm39)	missense	probably damaging	1.00
R9346:Dennd1a	UTSW	2	37,911,447 (GRCm39)	missense	probably benign	0.12
Z1088:Dennd1a	UTSW	2	37,690,704 (GRCm39)	missense	probably benign
Z1177:Dennd1a	UTSW	2	37,690,269 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCATGTTGTTCCCATCCAG -3'
(R):5'- ACCTCTTGGCTTGGGATGAC -3'

Sequencing Primer
(F):5'- CCCATCCAGAGTTTTGAAAATTTACC -3'
(R):5'- TTGGGATGACGCAAGAGGGC -3'

Posted On

2014-12-04