Mutagenetix > Incidental Mutation

Incidental Mutation 'R9536:Dennd6a'

719711

Institutional Source

Beutler Lab

Gene Symbol

Dennd6a

Ensembl Gene

ENSMUSG00000040818

Gene Name

DENN domain containing 6A

Synonyms

A630054L15Rik, Fam116a

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R9536 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26295013-26355477 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 26329758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 334 (K334*)

Ref Sequence

ENSEMBL: ENSMUSP00000039361 (fasta)

Gene Model

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

AlphaFold

Q8BH65

Predicted Effect

probably null
Transcript: ENSMUST00000037585
AA Change: K334*

SMART Domains

Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: K334*

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 null
Transcript: ENSMUST00000203874
AA Change: K334*

SMART Domains

Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: K334*

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 null
Transcript: ENSMUST00000224111
AA Change: K110*

Predicted Effect

probably null
Transcript: ENSMUST00000224248
AA Change: K110*

Predicted Effect

probably null
Transcript: ENSMUST00000224378
AA Change: K110*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,623 (GRCm39)	L259F	probably damaging	Het
Adamts6	A	C	13: 104,489,313 (GRCm39)	I389L	probably benign	Het
Adcy7	A	T	8: 89,053,026 (GRCm39)	E974V	possibly damaging	Het
Agbl3	G	T	6: 34,823,861 (GRCm39)	R847M	probably benign	Het
Ank2	T	G	3: 126,736,031 (GRCm39)	Q3284H	unknown	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bod1l	C	A	5: 41,974,305 (GRCm39)	E2336D	probably benign	Het
Ccdc18	T	C	5: 108,286,792 (GRCm39)	S109P	probably benign	Het
Ccdc62	T	C	5: 124,092,749 (GRCm39)	F578S	probably damaging	Het
Chid1	A	G	7: 141,093,755 (GRCm39)	V287A	probably benign	Het
Cyp26b1	T	G	6: 84,553,999 (GRCm39)	D206A	probably benign	Het
Drd3	T	C	16: 43,637,368 (GRCm39)	V189A	probably damaging	Het
Fmn1	T	C	2: 113,309,262 (GRCm39)	I728T	unknown	Het
Frem3	G	A	8: 81,342,048 (GRCm39)	G1447D	probably benign	Het
Gck	T	C	11: 5,852,307 (GRCm39)	D344G	possibly damaging	Het
Gimap9	T	A	6: 48,654,416 (GRCm39)	M1K	probably null	Het
Glb1l3	T	C	9: 26,770,929 (GRCm39)	T46A	probably benign	Het
Gm13941	T	C	2: 110,918,861 (GRCm39)	T198A	unknown	Het
Gphn	T	G	12: 78,609,636 (GRCm39)	S327A	possibly damaging	Het
Hmcn2	T	C	2: 31,335,130 (GRCm39)	S4356P	possibly damaging	Het
Iqgap1	A	T	7: 80,458,840 (GRCm39)	M26K		Het
Iqsec1	A	G	6: 90,666,659 (GRCm39)	Y489H	probably damaging	Het
Lars1	T	A	18: 42,376,046 (GRCm39)	R255*	probably null	Het
Lrp5	G	A	19: 3,672,672 (GRCm39)	H546Y	probably damaging	Het
Or2c1	T	A	16: 3,657,438 (GRCm39)	N200K	possibly damaging	Het
Or52a5b	A	T	7: 103,416,779 (GRCm39)	V275E	probably damaging	Het
Or5p61	T	C	7: 107,759,075 (GRCm39)	I2V	probably benign	Het
Or6c33	G	A	10: 129,853,345 (GRCm39)	M38I	probably benign	Het
Osbpl6	T	A	2: 76,416,554 (GRCm39)	C691S	probably benign	Het
Pcbp3	G	A	10: 76,599,225 (GRCm39)	L304F	possibly damaging	Het
Pramel34	G	C	5: 93,784,289 (GRCm39)	L392V	probably damaging	Het
Rpl5	T	A	5: 108,051,721 (GRCm39)	S172T	probably benign	Het
Rps2	C	T	17: 24,940,851 (GRCm39)	H297Y	unknown	Het
Scp2	A	T	4: 107,928,532 (GRCm39)	V386E	possibly damaging	Het
Sh2d5	T	A	4: 137,986,420 (GRCm39)	V381E	probably benign	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tat	T	A	8: 110,722,711 (GRCm39)	C258S	probably benign	Het
Thbs2	T	C	17: 14,910,147 (GRCm39)	N151D	probably damaging	Het
Thbs3	A	T	3: 89,124,044 (GRCm39)	I46F	possibly damaging	Het
Trpm6	A	T	19: 18,764,123 (GRCm39)	D243V	probably damaging	Het
Ttn	T	A	2: 76,739,017 (GRCm39)	N3887Y	unknown	Het
Ubap2	A	G	4: 41,195,661 (GRCm39)	S1020P	probably benign	Het
Ubtfl1	A	T	9: 18,320,537 (GRCm39)	M22L	probably benign	Het
V1rd19	A	T	7: 23,703,253 (GRCm39)	I240F	probably damaging	Het
Vwa5b2	C	T	16: 20,414,449 (GRCm39)	P275L	probably damaging	Het
Zfp386	G	A	12: 116,023,686 (GRCm39)	C468Y	probably damaging	Het
Zfp975	A	C	7: 42,312,345 (GRCm39)	H89Q	probably benign	Het
Zfyve26	T	A	12: 79,298,046 (GRCm39)	N1881I	probably benign	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
R8847:Dennd6a	UTSW	14	26,327,086 (GRCm39)	missense	probably benign	0.19
R9102:Dennd6a	UTSW	14	26,350,689 (GRCm39)	missense	probably damaging	0.99
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'- TCAGTGATATGGAGTTACACCTCG -3'
(R):5'- AGACAAAGTTAGCCTGCAGC -3'

Sequencing Primer
(F):5'- GGAGTTACACCTCGATAAATTTCAG -3'
(R):5'- CCTGCAGCAGATACTATATTAGCAGG -3'

Posted On

2022-07-18