Mutagenetix > Incidental Mutation

Incidental Mutation 'R8847:Dennd6a'

674778

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

068735-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.243) question?

Stock #

R8847 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 26327086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 249 (T249I)

Ref Sequence

ENSEMBL: ENSMUSP00000039361 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037585] [ENSMUST00000203874] [ENSMUST00000224111] [ENSMUST00000224248] [ENSMUST00000224378]

AlphaFold

Q8BH65

Predicted Effect

probably benign
Transcript: ENSMUST00000037585
AA Change: T249I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: T249I

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.9e-11	PFAM
Pfam:DENN	165	371	1.1e-7	PFAM
Pfam:SPA	265	373	4.2e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	541	N/A	INTRINSIC
low complexity region	554	563	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203874
AA Change: T249I

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: T249I

Domain	Start	End	E-Value	Type
low complexity region	17	51	N/A	INTRINSIC
Pfam:Avl9	59	200	2.6e-11	PFAM
Pfam:DENN	165	371	9.7e-8	PFAM
Pfam:SPA	265	373	3.7e-18	PFAM
low complexity region	379	390	N/A	INTRINSIC
low complexity region	412	423	N/A	INTRINSIC
low complexity region	526	537	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000224111
AA Change: T25I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000224248
AA Change: T25I

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000224378
AA Change: T25I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

Coding Region Coverage

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

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	G	C	8: 41,206,746 (GRCm39)	R4T	probably benign	Het
Alk	T	A	17: 72,256,820 (GRCm39)	I680F	probably benign	Het
Best3	A	G	10: 116,824,572 (GRCm39)	T13A	possibly damaging	Het
Ccdc7b	A	G	8: 129,872,082 (GRCm39)	D59G		Het
Cd300ld2	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG	11: 114,903,257 (GRCm39)		probably benign	Het
Cic	G	A	7: 24,970,631 (GRCm39)	V121M	probably damaging	Het
Clasp1	C	G	1: 118,506,705 (GRCm39)	P1280R	probably damaging	Het
Col6a5	A	T	9: 105,741,472 (GRCm39)	N2482K	possibly damaging	Het
Crebbp	A	G	16: 3,902,891 (GRCm39)	M2116T	probably benign	Het
Ddn	T	C	15: 98,704,794 (GRCm39)	E166G	possibly damaging	Het
Diaph1	A	T	18: 37,987,590 (GRCm39)	D1055E	possibly damaging	Het
Dnajc13	C	A	9: 104,057,360 (GRCm39)	G1547*	probably null	Het
Dvl1	C	T	4: 155,942,611 (GRCm39)	R626C	possibly damaging	Het
Fer1l6	A	C	15: 58,414,012 (GRCm39)	K13Q	possibly damaging	Het
Fry	G	A	5: 150,309,472 (GRCm39)	E639K		Het
Gm6408	G	T	5: 146,420,602 (GRCm39)	V161L	probably benign	Het
Gpatch8	A	T	11: 102,372,010 (GRCm39)	N509K	unknown	Het
Hycc2	G	T	1: 58,595,713 (GRCm39)	P55Q	probably damaging	Het
Ints13	T	C	6: 146,457,631 (GRCm39)	T416A	probably benign	Het
Iqcf6	A	T	9: 106,504,650 (GRCm39)	M105L	probably damaging	Het
Magi3	C	A	3: 103,922,334 (GRCm39)	R1461L	probably benign	Het
Map3k8	A	T	18: 4,333,889 (GRCm39)	L401Q		Het
Miga2	G	T	2: 30,273,990 (GRCm39)	R542L	probably damaging	Het
Mphosph9	A	T	5: 124,454,209 (GRCm39)	V96E	possibly damaging	Het
Nek5	T	C	8: 22,613,595 (GRCm39)	S28G	probably benign	Het
Niban1	A	G	1: 151,575,929 (GRCm39)	E351G	probably damaging	Het
Notch4	A	G	17: 34,803,962 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,323,987 (GRCm39)	L1275P	probably damaging	Het
Nphp4	C	T	4: 152,590,863 (GRCm39)	R287C	probably damaging	Het
Or10ak11	T	C	4: 118,686,821 (GRCm39)	D271G	probably damaging	Het
Or13a20	G	C	7: 140,232,326 (GRCm39)	A145P	possibly damaging	Het
Or1j13	G	A	2: 36,369,483 (GRCm39)	R220*	probably null	Het
Or1p1c	C	T	11: 74,160,443 (GRCm39)	T76I	probably damaging	Het
Parn	A	T	16: 13,446,270 (GRCm39)	L343*	probably null	Het
Pax5	T	A	4: 44,691,865 (GRCm39)	D127V	probably benign	Het
Peak1	C	A	9: 56,114,427 (GRCm39)	D1505Y	probably damaging	Het
Perm1	C	T	4: 156,302,068 (GRCm39)	T204I	probably benign	Het
Pid1	A	T	1: 84,093,694 (GRCm39)	S65T	unknown	Het
Pkn2	A	G	3: 142,526,401 (GRCm39)	V392A	probably benign	Het
Plekhh2	A	G	17: 84,878,479 (GRCm39)	D578G	probably benign	Het
Ppp4r4	T	A	12: 103,562,747 (GRCm39)	L572Q	probably damaging	Het
Pum3	G	A	19: 27,398,713 (GRCm39)	T279M	probably damaging	Het
Rasa2	A	G	9: 96,458,402 (GRCm39)	V266A	possibly damaging	Het
Sirpb1c	C	T	3: 15,886,584 (GRCm39)	W264*	probably null	Het
Slc35g3	A	T	11: 69,651,399 (GRCm39)	Y195*	probably null	Het
Slk	T	A	19: 47,607,632 (GRCm39)	H289Q		Het
Spef2	T	C	15: 9,668,913 (GRCm39)	S758G	probably benign	Het
Spon2	C	T	5: 33,371,841 (GRCm39)	A322T	probably benign	Het
Spred2	T	C	11: 19,951,064 (GRCm39)	L87P	probably benign	Het
Stk10	A	G	11: 32,539,427 (GRCm39)	D269G		Het
Tex48	T	A	4: 63,530,772 (GRCm39)		probably benign	Het
Themis2	T	A	4: 132,513,509 (GRCm39)	H239L	probably damaging	Het
Tle4	T	A	19: 14,493,737 (GRCm39)	R199*	probably null	Het
Tlr11	C	T	14: 50,600,182 (GRCm39)	H723Y	possibly damaging	Het
Trdj2	T	A	14: 54,374,237 (GRCm39)	S1T		Het
Vdac1	T	G	11: 52,267,230 (GRCm39)	S44A		Het
Vill	C	T	9: 118,897,514 (GRCm39)	T647I	probably damaging	Het
Vmn1r61	A	G	7: 5,613,817 (GRCm39)	C166R	probably damaging	Het
Vmn2r114	T	A	17: 23,528,986 (GRCm39)	N372I	probably damaging	Het
Vmn2r120	T	A	17: 57,816,217 (GRCm39)	M713L	probably benign	Het
Vmn2r61	T	C	7: 41,950,010 (GRCm39)	V810A	probably damaging	Het
Vmn2r65	A	T	7: 84,590,212 (GRCm39)	L568Q	probably damaging	Het
Wdr7	T	C	18: 63,872,293 (GRCm39)	V409A	probably damaging	Het
Ylpm1	C	A	12: 85,061,672 (GRCm39)	N524K	unknown	Het
Zfp958	A	C	8: 4,678,434 (GRCm39)	H153P	probably damaging	Het

Other mutations in Dennd6a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Dennd6a	APN	14	26,329,768 (GRCm39)	missense	probably damaging	1.00
IGL01011:Dennd6a	APN	14	26,324,209 (GRCm39)	missense	probably damaging	0.99
IGL01395:Dennd6a	APN	14	26,338,056 (GRCm39)	nonsense	probably null
IGL01559:Dennd6a	APN	14	26,329,720 (GRCm39)	missense	probably damaging	1.00
IGL01590:Dennd6a	APN	14	26,340,507 (GRCm39)	missense	probably benign	0.40
IGL02187:Dennd6a	APN	14	26,328,081 (GRCm39)	missense	probably benign
IGL03296:Dennd6a	APN	14	26,338,115 (GRCm39)	critical splice donor site	probably null
R1831:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R1833:Dennd6a	UTSW	14	26,328,109 (GRCm39)	missense	probably damaging	1.00
R2020:Dennd6a	UTSW	14	26,333,158 (GRCm39)	missense	probably damaging	0.99
R2032:Dennd6a	UTSW	14	26,325,904 (GRCm39)	missense	probably benign	0.42
R2036:Dennd6a	UTSW	14	26,329,274 (GRCm39)	missense	probably damaging	0.99
R3707:Dennd6a	UTSW	14	26,313,546 (GRCm39)	splice site	probably benign
R4112:Dennd6a	UTSW	14	26,349,673 (GRCm39)	intron	probably benign
R4728:Dennd6a	UTSW	14	26,348,575 (GRCm39)	missense	probably null	1.00
R5053:Dennd6a	UTSW	14	26,329,738 (GRCm39)	missense	probably damaging	1.00
R5760:Dennd6a	UTSW	14	26,333,195 (GRCm39)	missense	probably damaging	0.99
R5774:Dennd6a	UTSW	14	26,300,974 (GRCm39)	missense	probably benign
R5775:Dennd6a	UTSW	14	26,340,528 (GRCm39)	nonsense	probably null
R6238:Dennd6a	UTSW	14	26,337,813 (GRCm39)	critical splice donor site	probably null
R6446:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	1.00
R6734:Dennd6a	UTSW	14	26,329,774 (GRCm39)	missense	possibly damaging	0.84
R7289:Dennd6a	UTSW	14	26,333,193 (GRCm39)	missense	probably damaging	1.00
R7436:Dennd6a	UTSW	14	26,300,865 (GRCm39)	nonsense	probably null
R7887:Dennd6a	UTSW	14	26,320,812 (GRCm39)	missense	possibly damaging	0.50
R8348:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R8448:Dennd6a	UTSW	14	26,328,098 (GRCm39)	missense	possibly damaging	0.87
R9102:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99
R9536:Dennd6a	UTSW	14	26,329,758 (GRCm39)	nonsense	probably null
R9745:Dennd6a	UTSW	14	26,320,818 (GRCm39)	missense	possibly damaging	0.94
RF003:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGCTGTAACTAAGAATGAACACCC -3'
(R):5'- AGAGAACACCTTTTGCCAGAG -3'

Sequencing Primer
(F):5'- CCTTAGTTCTAAAACCCCGCAG -3'
(R):5'- GAGAACACCTTTTGCCAGAGTTAAAC -3'

Posted On

2021-07-15