Mutagenetix > Incidental Mutation

Incidental Mutation 'R6563:Dennd3'

522575

Institutional Source

Beutler Lab

Gene Symbol

Dennd3

Ensembl Gene

ENSMUSG00000036661

Gene Name

DENN/MADD domain containing 3

Synonyms

E030003N15Rik

MMRRC Submission

044687-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R6563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73512560-73572242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73544380 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 493 (H493L)

Ref Sequence

ENSEMBL: ENSMUSP00000134002 (fasta)

Gene Model

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

AlphaFold

A2RT67

Predicted Effect

probably damaging
Transcript: ENSMUST00000043414
AA Change: H493L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000046774
Gene: ENSMUSG00000036661
AA Change: H493L

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

probably damaging
Transcript: ENSMUST00000173292
AA Change: H493L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134002
Gene: ENSMUSG00000036661
AA Change: H493L

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

0.4143

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,258,982 (GRCm38)	V92A	possibly damaging	Het
Arhgap11a	A	T	2: 113,833,902 (GRCm38)	C679S	probably benign	Het
Atg4d	C	T	9: 21,268,460 (GRCm38)	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,371,912 (GRCm38)	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,492,086 (GRCm38)	H259L	probably benign	Het
Diexf	C	A	1: 193,118,390 (GRCm38)	R374L	probably damaging	Het
Dnm1	T	A	2: 32,312,726 (GRCm38)	D759V	probably damaging	Het
Dvl1	T	A	4: 155,856,253 (GRCm38)	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819 (GRCm38)	V2156A	probably benign	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Ermp1	T	C	19: 29,623,778 (GRCm38)	D523G	probably damaging	Het
Fam83c	A	G	2: 155,830,952 (GRCm38)	V295A	probably damaging	Het
Gphn	T	C	12: 78,680,396 (GRCm38)		probably null	Het
Irs1	T	A	1: 82,288,407 (GRCm38)	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,742,629 (GRCm38)	Y96C	probably damaging	Het
Krt77	G	T	15: 101,862,923 (GRCm38)	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,302,863 (GRCm38)		probably null	Het
Lama3	A	T	18: 12,537,766 (GRCm38)	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,486,395 (GRCm38)		probably null	Het
Ltbp4	A	T	7: 27,309,063 (GRCm38)	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,995,467 (GRCm38)	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,825,116 (GRCm38)	H167Q	probably benign	Het
Myo1g	T	A	11: 6,517,146 (GRCm38)	N230Y	possibly damaging	Het
Olfr57	A	T	10: 79,035,217 (GRCm38)	R140S	possibly damaging	Het
Prkar2b	G	T	12: 31,993,786 (GRCm38)		probably null	Het
Pwwp2a	G	T	11: 43,705,765 (GRCm38)	A586S	possibly damaging	Het
Ryr1	A	G	7: 29,095,492 (GRCm38)	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,205,943 (GRCm38)		probably null	Het
Slk	T	C	19: 47,636,469 (GRCm38)		probably null	Het
Snx3	A	G	10: 42,526,036 (GRCm38)	E82G	possibly damaging	Het
Srcin1	A	T	11: 97,534,774 (GRCm38)	Y486N	possibly damaging	Het
Tecpr2	A	G	12: 110,929,087 (GRCm38)	E336G	probably benign	Het
Terf2ip	G	T	8: 112,018,202 (GRCm38)	V384F	probably damaging	Het
Tnn	T	A	1: 160,088,398 (GRCm38)	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,777,159 (GRCm38)	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661 (GRCm38)	R932G	possibly damaging	Het
Vmn1r175	A	G	7: 23,808,605 (GRCm38)	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,502,501 (GRCm38)	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,804,178 (GRCm38)	N448Y	possibly damaging	Het

Other mutations in Dennd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Dennd3	APN	15	73,567,133 (GRCm38)	missense	probably benign	0.26
IGL00579:Dennd3	APN	15	73,540,842 (GRCm38)	missense	possibly damaging	0.63
IGL02101:Dennd3	APN	15	73,527,945 (GRCm38)	missense	possibly damaging	0.81
IGL02164:Dennd3	APN	15	73,544,448 (GRCm38)	missense	probably benign	0.26
IGL02389:Dennd3	APN	15	73,567,056 (GRCm38)	missense	probably damaging	1.00
IGL02604:Dennd3	APN	15	73,556,403 (GRCm38)	missense	probably damaging	1.00
IGL02697:Dennd3	APN	15	73,524,236 (GRCm38)	missense	possibly damaging	0.82
IGL02885:Dennd3	APN	15	73,568,696 (GRCm38)	missense	probably benign
IGL03356:Dennd3	APN	15	73,568,633 (GRCm38)	missense	probably benign	0.19
IGL03388:Dennd3	APN	15	73,544,359 (GRCm38)	missense	probably damaging	0.98
BB006:Dennd3	UTSW	15	73,564,574 (GRCm38)	missense	probably damaging	1.00
BB016:Dennd3	UTSW	15	73,564,574 (GRCm38)	missense	probably damaging	1.00
R0118:Dennd3	UTSW	15	73,565,076 (GRCm38)	missense	probably damaging	1.00
R0925:Dennd3	UTSW	15	73,533,435 (GRCm38)	missense	probably damaging	1.00
R1076:Dennd3	UTSW	15	73,540,733 (GRCm38)	missense	probably damaging	1.00
R1355:Dennd3	UTSW	15	73,540,854 (GRCm38)	splice site	probably benign
R1370:Dennd3	UTSW	15	73,540,854 (GRCm38)	splice site	probably benign
R1480:Dennd3	UTSW	15	73,532,846 (GRCm38)	missense	probably benign	0.20
R1727:Dennd3	UTSW	15	73,565,128 (GRCm38)	missense	possibly damaging	0.95
R1732:Dennd3	UTSW	15	73,537,418 (GRCm38)	splice site	probably benign
R1771:Dennd3	UTSW	15	73,555,101 (GRCm38)	missense	possibly damaging	0.71
R1776:Dennd3	UTSW	15	73,555,101 (GRCm38)	missense	possibly damaging	0.71
R1779:Dennd3	UTSW	15	73,522,508 (GRCm38)	critical splice donor site	probably null
R1838:Dennd3	UTSW	15	73,565,100 (GRCm38)	missense	probably damaging	1.00
R2146:Dennd3	UTSW	15	73,555,060 (GRCm38)	missense	probably benign	0.35
R2146:Dennd3	UTSW	15	73,523,496 (GRCm38)	missense	probably damaging	1.00
R2147:Dennd3	UTSW	15	73,523,487 (GRCm38)	missense	probably damaging	1.00
R2148:Dennd3	UTSW	15	73,555,060 (GRCm38)	missense	probably benign	0.35
R2149:Dennd3	UTSW	15	73,555,060 (GRCm38)	missense	probably benign	0.35
R2150:Dennd3	UTSW	15	73,555,060 (GRCm38)	missense	probably benign	0.35
R2174:Dennd3	UTSW	15	73,555,305 (GRCm38)	missense	probably damaging	1.00
R2295:Dennd3	UTSW	15	73,523,555 (GRCm38)	critical splice donor site	probably null
R2905:Dennd3	UTSW	15	73,557,646 (GRCm38)	missense	probably damaging	1.00
R3106:Dennd3	UTSW	15	73,565,124 (GRCm38)	nonsense	probably null
R3757:Dennd3	UTSW	15	73,522,234 (GRCm38)	missense	probably benign	0.00
R3785:Dennd3	UTSW	15	73,547,577 (GRCm38)	missense	possibly damaging	0.89
R3786:Dennd3	UTSW	15	73,547,577 (GRCm38)	missense	possibly damaging	0.89
R3787:Dennd3	UTSW	15	73,547,577 (GRCm38)	missense	possibly damaging	0.89
R3847:Dennd3	UTSW	15	73,542,732 (GRCm38)	missense	possibly damaging	0.64
R4369:Dennd3	UTSW	15	73,540,809 (GRCm38)	missense	probably damaging	0.98
R4601:Dennd3	UTSW	15	73,567,160 (GRCm38)	missense	probably damaging	0.99
R4666:Dennd3	UTSW	15	73,570,860 (GRCm38)	missense	probably damaging	1.00
R4680:Dennd3	UTSW	15	73,533,376 (GRCm38)	missense	possibly damaging	0.82
R4708:Dennd3	UTSW	15	73,523,495 (GRCm38)	missense	probably damaging	1.00
R4789:Dennd3	UTSW	15	73,522,282 (GRCm38)	missense	probably damaging	1.00
R4920:Dennd3	UTSW	15	73,540,725 (GRCm38)	missense	probably benign	0.13
R5043:Dennd3	UTSW	15	73,527,936 (GRCm38)	missense	probably benign	0.00
R5074:Dennd3	UTSW	15	73,547,295 (GRCm38)	missense	probably damaging	1.00
R5410:Dennd3	UTSW	15	73,547,448 (GRCm38)	missense	probably benign	0.02
R5421:Dennd3	UTSW	15	73,567,115 (GRCm38)	missense	probably benign
R5560:Dennd3	UTSW	15	73,532,895 (GRCm38)	missense	probably damaging	1.00
R6008:Dennd3	UTSW	15	73,567,080 (GRCm38)	missense	possibly damaging	0.88
R6357:Dennd3	UTSW	15	73,556,472 (GRCm38)	missense	possibly damaging	0.49
R6687:Dennd3	UTSW	15	73,556,366 (GRCm38)	missense	possibly damaging	0.64
R6837:Dennd3	UTSW	15	73,557,693 (GRCm38)	missense	probably damaging	1.00
R6910:Dennd3	UTSW	15	73,555,116 (GRCm38)	missense	probably benign	0.01
R7125:Dennd3	UTSW	15	73,533,291 (GRCm38)	missense	possibly damaging	0.50
R7297:Dennd3	UTSW	15	73,557,610 (GRCm38)	missense	probably damaging	1.00
R7524:Dennd3	UTSW	15	73,524,246 (GRCm38)	nonsense	probably null
R7580:Dennd3	UTSW	15	73,556,447 (GRCm38)	missense	possibly damaging	0.89
R7653:Dennd3	UTSW	15	73,562,426 (GRCm38)	missense	probably damaging	0.99
R7731:Dennd3	UTSW	15	73,562,367 (GRCm38)	missense	probably damaging	0.99
R7767:Dennd3	UTSW	15	73,522,230 (GRCm38)	missense	probably benign
R7806:Dennd3	UTSW	15	73,570,775 (GRCm38)	missense	possibly damaging	0.87
R7860:Dennd3	UTSW	15	73,540,808 (GRCm38)	missense	probably damaging	0.97
R7902:Dennd3	UTSW	15	73,568,115 (GRCm38)	critical splice donor site	probably benign
R7929:Dennd3	UTSW	15	73,564,574 (GRCm38)	missense	probably damaging	1.00
R8218:Dennd3	UTSW	15	73,512,773 (GRCm38)	missense	probably benign	0.31
R8436:Dennd3	UTSW	15	73,562,349 (GRCm38)	missense	probably damaging	1.00
R8444:Dennd3	UTSW	15	73,570,823 (GRCm38)	missense	probably benign	0.09
R8698:Dennd3	UTSW	15	73,522,305 (GRCm38)	missense	possibly damaging	0.52
R8967:Dennd3	UTSW	15	73,547,577 (GRCm38)	missense	possibly damaging	0.89
R9147:Dennd3	UTSW	15	73,557,614 (GRCm38)	missense	probably damaging	1.00
R9148:Dennd3	UTSW	15	73,557,614 (GRCm38)	missense	probably damaging	1.00
R9194:Dennd3	UTSW	15	73,547,304 (GRCm38)	missense	probably benign	0.04
R9449:Dennd3	UTSW	15	73,557,628 (GRCm38)	missense	probably damaging	1.00
R9501:Dennd3	UTSW	15	73,547,192 (GRCm38)	missense	probably benign	0.01
R9616:Dennd3	UTSW	15	73,568,714 (GRCm38)	missense	probably benign
R9730:Dennd3	UTSW	15	73,555,110 (GRCm38)	missense	probably damaging	1.00
RF006:Dennd3	UTSW	15	73,547,592 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGGCACCTGCATATATTCACAGAC -3'
(R):5'- GCTCAATAGCCCACTGAACTG -3'

Sequencing Primer
(F):5'- CCTGCATATATTCACAGACACATTAC -3'
(R):5'- AGCCCACTGAACTGATCATCTGTATG -3'

Posted On

2018-06-06