Mutagenetix > Incidental Mutation

Incidental Mutation 'R6991:Dner'

543817

Institutional Source

Beutler Lab

Gene Symbol

Dner

Ensembl Gene

ENSMUSG00000036766

Gene Name

delta/notch-like EGF repeat containing

Synonyms

A930026D19Rik, BET

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6991 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84369839-84696221 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 84476402 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 402 (R402*)

Ref Sequence

ENSEMBL: ENSMUSP00000042927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049126]

AlphaFold

Q8JZM4

Predicted Effect

probably null
Transcript: ENSMUST00000049126
AA Change: R402*

SMART Domains

Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: R402*

Domain	Start	End	E-Value	Type
signal peptide	1	34	N/A	INTRINSIC
EGF	47	92	9.85e-5	SMART
EGF	97	133	2.33e-6	SMART
EGF	306	348	1.8e1	SMART
EGF	352	390	5e-6	SMART
EGF_CA	392	428	8.97e-8	SMART
EGF	433	466	3.54e-6	SMART
EGF	471	503	4.66e-6	SMART
EGF_CA	505	541	1.61e-9	SMART
EGF	546	579	9.7e-4	SMART
EGF_CA	581	617	4.52e-13	SMART
transmembrane domain	639	661	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display delayed cerebellar development, abnormal Bergmann glial cells, abnormal Purkinje cell innervation, and impaired coordination. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,580,446	V278D	probably damaging	Het
2410089E03Rik	A	G	15: 8,252,206	E2843G	unknown	Het
9930021J03Rik	A	G	19: 29,719,108	L995S	possibly damaging	Het
Akap12	G	T	10: 4,357,122	E1311*	probably null	Het
Ankdd1a	T	A	9: 65,508,675	D186V	probably benign	Het
Birc6	A	G	17: 74,562,095	E346G	probably damaging	Het
Ccr7	A	C	11: 99,145,304	V264G	probably damaging	Het
Col7a1	T	C	9: 108,983,919		probably null	Het
Coq8a	T	C	1: 180,179,068	T132A	probably benign	Het
Cyp2b10	G	A	7: 25,917,355	S407N	probably benign	Het
Ddi2	A	G	4: 141,685,250	V117A	probably benign	Het
Ddx42	G	A	11: 106,239,144	V421I	probably damaging	Het
Dip2c	T	A	13: 9,551,860	L285*	probably null	Het
Dip2c	C	T	13: 9,634,832	S1232F	probably damaging	Het
Dpysl3	A	T	18: 43,353,891	I317N	probably damaging	Het
Dusp23	T	A	1: 172,631,657	Y146F	probably benign	Het
Eef1a2	C	A	2: 181,148,628	V412L	possibly damaging	Het
Epha7	C	T	4: 28,821,489	T218I	probably damaging	Het
Gigyf2	T	A	1: 87,407,136	C284S	probably damaging	Het
Gm16427	T	A	5: 93,484,374	N107I	probably damaging	Het
Golm1	ACTTCTTCT	ACTTCT	13: 59,649,576		probably benign	Het
Hao2	T	A	3: 98,876,752	E327V	probably damaging	Het
Hdhd5	A	G	6: 120,510,169	V409A	probably damaging	Het
Kif9	T	C	9: 110,494,622	Y236H	probably damaging	Het
Kri1	T	C	9: 21,287,754		probably benign	Het
Lig4	A	T	8: 9,971,098	V894E	probably damaging	Het
Lrriq1	T	C	10: 103,187,458	N982S	probably damaging	Het
Mapk8	T	C	14: 33,410,884	I32V	possibly damaging	Het
Mast4	C	T	13: 102,804,647	V301I	probably damaging	Het
Mstn	T	C	1: 53,061,941	I59T	probably benign	Het
Mtrf1l	T	C	10: 5,813,384	E315G	probably damaging	Het
Notch4	G	T	17: 34,584,800	E1515*	probably null	Het
Npw	A	C	17: 24,658,055	V124G	probably benign	Het
Nxph3	A	G	11: 95,511,418	S57P	probably damaging	Het
Olfr1000	T	C	2: 85,608,248	I221V	possibly damaging	Het
Olfr1145	G	A	2: 87,810,443	D208N	possibly damaging	Het
Olfr1443	G	T	19: 12,680,748	L213F	probably benign	Het
Olfr493	T	A	7: 108,346,088	N298Y	possibly damaging	Het
Olfr677	T	C	7: 105,056,564	I106T	probably damaging	Het
Opn4	A	T	14: 34,593,907	L390M	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pla2g2e	G	A	4: 138,880,675	C62Y	probably damaging	Het
Plcb4	G	A	2: 135,910,194	V107M	probably damaging	Het
Prorsd1	A	C	11: 29,514,486		probably benign	Het
Prox2	A	G	12: 85,087,391	L587P	probably benign	Het
Prr22	A	G	17: 56,771,345	D166G	possibly damaging	Het
Ptprz1	G	A	6: 23,002,687	R1592Q	probably benign	Het
Rarg	C	G	15: 102,241,915	R74P	probably damaging	Het
Rcan1	A	G	16: 92,397,363	V54A	probably benign	Het
Rmdn2	A	G	17: 79,621,310		probably benign	Het
Sec16a	G	A	2: 26,430,486	R1361C	probably damaging	Het
Serpina1a	T	C	12: 103,853,833	T385A	probably benign	Het
Slc44a3	T	C	3: 121,532,165	Y12C	probably benign	Het
Smg1	C	A	7: 118,167,868		probably benign	Het
Spock3	A	G	8: 63,355,381	*437W	probably null	Het
Sugct	T	A	13: 17,554,380	Q220H	probably benign	Het
Tesk1	A	G	4: 43,447,006	T465A	probably benign	Het
Tnks	C	A	8: 34,834,493	R1274I	probably damaging	Het
Trp53bp1	C	T	2: 121,208,040	R1439H	probably damaging	Het
Vmn1r16	G	T	6: 57,322,884	S251*	probably null	Het
Vmn2r15	T	A	5: 109,293,314	Q226L	probably damaging	Het
Vmn2r67	T	G	7: 85,155,745	Y53S	possibly damaging	Het
Vmn2r99	A	G	17: 19,378,110	N132S	probably benign	Het
Wdr73	T	G	7: 80,891,856	T313P	probably benign	Het
Zfp65	C	T	13: 67,708,521	R213Q	probably damaging	Het

Other mutations in Dner

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Dner	APN	1	84384010	missense	probably benign	0.13
IGL02251:Dner	APN	1	84384026	missense	probably damaging	1.00
IGL02904:Dner	APN	1	84534944	missense	probably damaging	0.96
IGL03063:Dner	APN	1	84585338	missense	possibly damaging	0.90
R0013:Dner	UTSW	1	84494893	splice site	probably benign
R0112:Dner	UTSW	1	84583053	missense	probably benign	0.06
R0196:Dner	UTSW	1	84370832	missense	probably damaging	1.00
R0282:Dner	UTSW	1	84405965	missense	probably damaging	1.00
R0282:Dner	UTSW	1	84445380	splice site	probably benign
R0942:Dner	UTSW	1	84585309	splice site	probably benign
R1143:Dner	UTSW	1	84445464	missense	probably damaging	1.00
R1483:Dner	UTSW	1	84585549	utr 5 prime	probably benign
R1585:Dner	UTSW	1	84585456	missense	probably benign	0.05
R1636:Dner	UTSW	1	84585330	missense	possibly damaging	0.89
R1739:Dner	UTSW	1	84370784	missense	probably damaging	0.99
R1756:Dner	UTSW	1	84445590	missense	probably damaging	0.98
R1960:Dner	UTSW	1	84445456	missense	probably damaging	0.98
R2061:Dner	UTSW	1	84405989	missense	probably damaging	1.00
R2157:Dner	UTSW	1	84383938	missense	possibly damaging	0.88
R2265:Dner	UTSW	1	84585549	utr 5 prime	probably benign
R2382:Dner	UTSW	1	84370823	missense	probably damaging	1.00
R2507:Dner	UTSW	1	84583080	missense	probably damaging	1.00
R3053:Dner	UTSW	1	84384026	missense	probably damaging	1.00
R3917:Dner	UTSW	1	84585549	utr 5 prime	probably benign
R4530:Dner	UTSW	1	84583015	missense	probably damaging	1.00
R4552:Dner	UTSW	1	84383857	missense	probably damaging	1.00
R4579:Dner	UTSW	1	84383816	missense	probably damaging	0.97
R4593:Dner	UTSW	1	84695728	start codon destroyed	probably null
R4711:Dner	UTSW	1	84383897	missense	possibly damaging	0.75
R5102:Dner	UTSW	1	84405970	missense	probably damaging	1.00
R5314:Dner	UTSW	1	84580739	missense	probably damaging	1.00
R5370:Dner	UTSW	1	84585549	utr 5 prime	probably benign
R6000:Dner	UTSW	1	84383929	missense	possibly damaging	0.80
R6644:Dner	UTSW	1	84395707	missense	probably damaging	1.00
R6764:Dner	UTSW	1	84494781	missense	probably damaging	1.00
R6948:Dner	UTSW	1	84406017	missense	probably damaging	1.00
R7056:Dner	UTSW	1	84580736	missense	possibly damaging	0.75
R7410:Dner	UTSW	1	84585611	missense	probably damaging	1.00
R7490:Dner	UTSW	1	84585549	utr 5 prime	probably benign
R7869:Dner	UTSW	1	84383881	missense	probably benign	0.10
R7938:Dner	UTSW	1	84695497	missense	possibly damaging	0.62
R8253:Dner	UTSW	1	84534877	missense	probably damaging	1.00
R9016:Dner	UTSW	1	84695505	missense	probably benign	0.05
R9170:Dner	UTSW	1	84534926	missense	probably damaging	1.00
R9254:Dner	UTSW	1	84695472	missense	probably benign	0.03
R9763:Dner	UTSW	1	84383935	missense	possibly damaging	0.75
Z1176:Dner	UTSW	1	84383980	missense	possibly damaging	0.88
Z1177:Dner	UTSW	1	84405989	missense	probably damaging	1.00
Z1177:Dner	UTSW	1	84445433	missense	probably damaging	0.99
Z1177:Dner	UTSW	1	84445430	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAAAAGAGAGGGAATCATCTTCTG -3'
(R):5'- TAAGCAAGGTGGCTGCTTCC -3'

Sequencing Primer
(F):5'- ACAGAGACAGAGAGAGAATGATTG -3'
(R):5'- AAGGTGGCTGCTTCCAAGGG -3'

Posted On

2019-05-13