Mutagenetix > Incidental Mutation

Incidental Mutation 'R3786:Dennd3'

272279

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

040753-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.189) question?

Stock #

R3786 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73384409-73444091 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73419426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 739 (V739A)

Ref Sequence

ENSEMBL: ENSMUSP00000134002 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043414] [ENSMUST00000173292]

AlphaFold

A2RT67

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043414
AA Change: V739A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: V739A

Domain	Start	End	E-Value	Type
Blast:uDENN	12	161	3e-78	BLAST
DENN	187	373	1.54e-62	SMART
dDENN	436	499	6.81e-14	SMART
WD40	1015	1054	3.68e1	SMART
WD40	1057	1098	3.32e-5	SMART
WD40	1232	1272	1.1e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162488

SMART Domains

Protein: ENSMUSP00000125657
Gene: ENSMUSG00000036661

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
Blast:DENN	33	104	5e-28	BLAST
DENN	116	302	1.54e-62	SMART
dDENN	312	376	5.63e-6	SMART
WD40	892	931	3.68e1	SMART
WD40	934	975	3.32e-5	SMART
WD40	1109	1149	1.1e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173292
AA Change: V739A

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: V739A

Domain	Start	End	E-Value	Type
Blast:uDENN	12	161	2e-78	BLAST
DENN	187	373	1.54e-62	SMART
dDENN	436	499	6.81e-14	SMART
WD40	1015	1054	3.68e1	SMART
WD40	1057	1098	3.32e-5	SMART

Meta Mutation Damage Score

0.0973

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	A	3: 97,066,605 (GRCm39)	L41Q	probably damaging	Het
Aoc1	T	C	6: 48,882,589 (GRCm39)	L177P	probably damaging	Het
Btbd7	C	T	12: 102,804,411 (GRCm39)	E210K	probably benign	Het
C1qtnf12	G	A	4: 156,050,356 (GRCm39)	R231H	probably damaging	Het
Cenpf	T	A	1: 189,390,534 (GRCm39)	E1099D	probably damaging	Het
Dmxl1	G	A	18: 49,998,189 (GRCm39)	S763N	probably damaging	Het
Dzip3	C	A	16: 48,795,906 (GRCm39)	C155F	probably benign	Het
Fam161b	A	T	12: 84,408,464 (GRCm39)		probably null	Het
Fancd2	T	G	6: 113,542,165 (GRCm39)	S770A	probably damaging	Het
Gpt2	G	T	8: 86,252,202 (GRCm39)	V506L	probably benign	Het
Hao2	T	A	3: 98,784,068 (GRCm39)	E327V	probably damaging	Het
Heatr1	G	T	13: 12,449,341 (GRCm39)	L1946F	probably damaging	Het
Hnrnpl	A	G	7: 28,510,436 (GRCm39)		probably benign	Het
Itgb1	T	A	8: 129,439,839 (GRCm39)	I176N	probably damaging	Het
Kif13b	C	T	14: 65,037,849 (GRCm39)	T1505I	probably benign	Het
Magi2	C	T	5: 20,670,907 (GRCm39)	T580M	probably damaging	Het
Mettl3	A	T	14: 52,537,363 (GRCm39)	I102N	probably benign	Het
Mgat4c	A	G	10: 102,220,931 (GRCm39)	H71R	probably damaging	Het
Misp	G	A	10: 79,661,795 (GRCm39)	V71I	probably benign	Het
Muc2	A	G	7: 141,283,590 (GRCm39)	Q734R	probably benign	Het
Muc5b	C	T	7: 141,418,853 (GRCm39)	T3933I	possibly damaging	Het
Myh13	A	G	11: 67,218,014 (GRCm39)	N29S	probably benign	Het
Myo15a	A	T	11: 60,368,398 (GRCm39)	Y386F	probably damaging	Het
Neb	C	A	2: 52,091,927 (GRCm39)	V5046F	probably damaging	Het
Neurod1	T	A	2: 79,284,939 (GRCm39)	N148I	probably damaging	Het
Nrg1	A	T	8: 32,311,411 (GRCm39)	V376E	probably damaging	Het
Nsa2	G	T	13: 97,272,042 (GRCm39)	Q60K	possibly damaging	Het
Odr4	A	G	1: 150,260,282 (GRCm39)	I112T	probably benign	Het
Ppp1r21	T	A	17: 88,884,555 (GRCm39)		probably null	Het
Rala	T	A	13: 18,057,031 (GRCm39)	E185V	probably benign	Het
Rhoc	T	C	3: 104,700,003 (GRCm39)		probably null	Het
Robo3	A	G	9: 37,333,521 (GRCm39)	V708A	probably damaging	Het
Rtcb	G	T	10: 85,778,458 (GRCm39)	T395K	possibly damaging	Het
Rttn	A	G	18: 89,056,018 (GRCm39)	T967A	probably benign	Het
Sacs	C	A	14: 61,421,410 (GRCm39)	Q116K	probably damaging	Het
Smarca4	A	G	9: 21,583,355 (GRCm39)	H1062R	possibly damaging	Het
Spatc1l	C	T	10: 76,399,736 (GRCm39)	T86I	probably benign	Het
Thbs4	T	C	13: 92,909,672 (GRCm39)	N375S	probably benign	Het
Tsc1	A	G	2: 28,577,154 (GRCm39)	D1151G	probably damaging	Het
Ttll1	T	C	15: 83,368,419 (GRCm39)	D413G	probably benign	Het
Wap	G	A	11: 6,588,550 (GRCm39)	Q25*	probably null	Het
Wnt16	A	G	6: 22,298,021 (GRCm39)	N296D	probably benign	Het

Other mutations in Dennd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd3	APN	15	73,438,982 (GRCm39)	missense	probably benign	0.26
IGL00579:Dennd3	APN	15	73,412,691 (GRCm39)	missense	possibly damaging	0.63
IGL02101:Dennd3	APN	15	73,399,794 (GRCm39)	missense	possibly damaging	0.81
IGL02164:Dennd3	APN	15	73,416,297 (GRCm39)	missense	probably benign	0.26
IGL02389:Dennd3	APN	15	73,438,905 (GRCm39)	missense	probably damaging	1.00
IGL02604:Dennd3	APN	15	73,428,252 (GRCm39)	missense	probably damaging	1.00
IGL02697:Dennd3	APN	15	73,396,085 (GRCm39)	missense	possibly damaging	0.82
IGL02885:Dennd3	APN	15	73,440,545 (GRCm39)	missense	probably benign
IGL03356:Dennd3	APN	15	73,440,482 (GRCm39)	missense	probably benign	0.19
IGL03388:Dennd3	APN	15	73,416,208 (GRCm39)	missense	probably damaging	0.98
BB006:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
BB016:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
R0118:Dennd3	UTSW	15	73,436,925 (GRCm39)	missense	probably damaging	1.00
R0925:Dennd3	UTSW	15	73,405,284 (GRCm39)	missense	probably damaging	1.00
R1076:Dennd3	UTSW	15	73,412,582 (GRCm39)	missense	probably damaging	1.00
R1355:Dennd3	UTSW	15	73,412,703 (GRCm39)	splice site	probably benign
R1370:Dennd3	UTSW	15	73,412,703 (GRCm39)	splice site	probably benign
R1480:Dennd3	UTSW	15	73,404,695 (GRCm39)	missense	probably benign	0.20
R1727:Dennd3	UTSW	15	73,436,977 (GRCm39)	missense	possibly damaging	0.95
R1732:Dennd3	UTSW	15	73,409,267 (GRCm39)	splice site	probably benign
R1771:Dennd3	UTSW	15	73,426,950 (GRCm39)	missense	possibly damaging	0.71
R1776:Dennd3	UTSW	15	73,426,950 (GRCm39)	missense	possibly damaging	0.71
R1779:Dennd3	UTSW	15	73,394,357 (GRCm39)	critical splice donor site	probably null
R1838:Dennd3	UTSW	15	73,436,949 (GRCm39)	missense	probably damaging	1.00
R2146:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2146:Dennd3	UTSW	15	73,395,345 (GRCm39)	missense	probably damaging	1.00
R2147:Dennd3	UTSW	15	73,395,336 (GRCm39)	missense	probably damaging	1.00
R2148:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2149:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2150:Dennd3	UTSW	15	73,426,909 (GRCm39)	missense	probably benign	0.35
R2174:Dennd3	UTSW	15	73,427,154 (GRCm39)	missense	probably damaging	1.00
R2295:Dennd3	UTSW	15	73,395,404 (GRCm39)	critical splice donor site	probably null
R2905:Dennd3	UTSW	15	73,429,495 (GRCm39)	missense	probably damaging	1.00
R3106:Dennd3	UTSW	15	73,436,973 (GRCm39)	nonsense	probably null
R3757:Dennd3	UTSW	15	73,394,083 (GRCm39)	missense	probably benign	0.00
R3785:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R3787:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R3847:Dennd3	UTSW	15	73,414,581 (GRCm39)	missense	possibly damaging	0.64
R4369:Dennd3	UTSW	15	73,412,658 (GRCm39)	missense	probably damaging	0.98
R4601:Dennd3	UTSW	15	73,439,009 (GRCm39)	missense	probably damaging	0.99
R4666:Dennd3	UTSW	15	73,442,709 (GRCm39)	missense	probably damaging	1.00
R4680:Dennd3	UTSW	15	73,405,225 (GRCm39)	missense	possibly damaging	0.82
R4708:Dennd3	UTSW	15	73,395,344 (GRCm39)	missense	probably damaging	1.00
R4789:Dennd3	UTSW	15	73,394,131 (GRCm39)	missense	probably damaging	1.00
R4920:Dennd3	UTSW	15	73,412,574 (GRCm39)	missense	probably benign	0.13
R5043:Dennd3	UTSW	15	73,399,785 (GRCm39)	missense	probably benign	0.00
R5074:Dennd3	UTSW	15	73,419,144 (GRCm39)	missense	probably damaging	1.00
R5410:Dennd3	UTSW	15	73,419,297 (GRCm39)	missense	probably benign	0.02
R5421:Dennd3	UTSW	15	73,438,964 (GRCm39)	missense	probably benign
R5560:Dennd3	UTSW	15	73,404,744 (GRCm39)	missense	probably damaging	1.00
R6008:Dennd3	UTSW	15	73,438,929 (GRCm39)	missense	possibly damaging	0.88
R6357:Dennd3	UTSW	15	73,428,321 (GRCm39)	missense	possibly damaging	0.49
R6563:Dennd3	UTSW	15	73,416,229 (GRCm39)	missense	probably damaging	0.98
R6687:Dennd3	UTSW	15	73,428,215 (GRCm39)	missense	possibly damaging	0.64
R6837:Dennd3	UTSW	15	73,429,542 (GRCm39)	missense	probably damaging	1.00
R6910:Dennd3	UTSW	15	73,426,965 (GRCm39)	missense	probably benign	0.01
R7125:Dennd3	UTSW	15	73,405,140 (GRCm39)	missense	possibly damaging	0.50
R7297:Dennd3	UTSW	15	73,429,459 (GRCm39)	missense	probably damaging	1.00
R7524:Dennd3	UTSW	15	73,396,095 (GRCm39)	nonsense	probably null
R7580:Dennd3	UTSW	15	73,428,296 (GRCm39)	missense	possibly damaging	0.89
R7653:Dennd3	UTSW	15	73,434,275 (GRCm39)	missense	probably damaging	0.99
R7731:Dennd3	UTSW	15	73,434,216 (GRCm39)	missense	probably damaging	0.99
R7767:Dennd3	UTSW	15	73,394,079 (GRCm39)	missense	probably benign
R7806:Dennd3	UTSW	15	73,442,624 (GRCm39)	missense	possibly damaging	0.87
R7860:Dennd3	UTSW	15	73,412,657 (GRCm39)	missense	probably damaging	0.97
R7902:Dennd3	UTSW	15	73,439,964 (GRCm39)	critical splice donor site	probably benign
R7929:Dennd3	UTSW	15	73,436,423 (GRCm39)	missense	probably damaging	1.00
R8218:Dennd3	UTSW	15	73,384,622 (GRCm39)	missense	probably benign	0.31
R8436:Dennd3	UTSW	15	73,434,198 (GRCm39)	missense	probably damaging	1.00
R8444:Dennd3	UTSW	15	73,442,672 (GRCm39)	missense	probably benign	0.09
R8698:Dennd3	UTSW	15	73,394,154 (GRCm39)	missense	possibly damaging	0.52
R8967:Dennd3	UTSW	15	73,419,426 (GRCm39)	missense	possibly damaging	0.89
R9147:Dennd3	UTSW	15	73,429,463 (GRCm39)	missense	probably damaging	1.00
R9148:Dennd3	UTSW	15	73,429,463 (GRCm39)	missense	probably damaging	1.00
R9194:Dennd3	UTSW	15	73,419,153 (GRCm39)	missense	probably benign	0.04
R9449:Dennd3	UTSW	15	73,429,477 (GRCm39)	missense	probably damaging	1.00
R9501:Dennd3	UTSW	15	73,419,041 (GRCm39)	missense	probably benign	0.01
R9616:Dennd3	UTSW	15	73,440,563 (GRCm39)	missense	probably benign
R9730:Dennd3	UTSW	15	73,426,959 (GRCm39)	missense	probably damaging	1.00
RF006:Dennd3	UTSW	15	73,419,441 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCGACATAGGGATCTTCC -3'
(R):5'- GTCCATGTTCAGTGAGGACAC -3'

Sequencing Primer
(F):5'- TTCCCGGCTGATCTGGTCAAG -3'
(R):5'- GTGAGGACACAGCTCGTTTTTATACC -3'

Posted On

2015-03-25