Mutagenetix > Incidental Mutation

Incidental Mutation 'R1585:Dner'

177401

Institutional Source

Beutler Lab

Gene Symbol

Dner

Ensembl Gene

ENSMUSG00000036766

Gene Name

delta/notch-like EGF repeat containing

Synonyms

BET, A930026D19Rik

MMRRC Submission

039622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1585 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84347560-84673942 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84563177 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 61 (T61A)

Ref Sequence

ENSEMBL: ENSMUSP00000140986 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049126] [ENSMUST00000185606] [ENSMUST00000191546]

AlphaFold

Q8JZM4

Predicted Effect

probably benign
Transcript: ENSMUST00000049126
AA Change: T148A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000042927
Gene: ENSMUSG00000036766
AA Change: T148A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000185606
AA Change: T61A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000140986
Gene: ENSMUSG00000036766
AA Change: T61A

Domain	Start	End	E-Value	Type
EGF	10	46	1.1e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191306

Predicted Effect

probably benign
Transcript: ENSMUST00000191546

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 91.2%

Validation Efficiency

95% (81/85)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	T	A	10: 28,858,518 (GRCm39)	I50F	possibly damaging	Het
4930505A04Rik	T	C	11: 30,377,175 (GRCm39)		probably benign	Het
Aadat	A	T	8: 60,979,714 (GRCm39)	D192V	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Amigo3	A	T	9: 107,931,231 (GRCm39)	N218I	probably damaging	Het
Ankmy1	A	G	1: 92,827,373 (GRCm39)	S60P	probably benign	Het
Apol7e	G	A	15: 77,602,029 (GRCm39)	S209N	probably damaging	Het
AW551984	A	T	9: 39,510,632 (GRCm39)	Y234*	probably null	Het
Bcam	A	T	7: 19,494,111 (GRCm39)	D393E	probably damaging	Het
Card9	A	G	2: 26,244,398 (GRCm39)	L444P	probably benign	Het
Ccar1	T	C	10: 62,586,780 (GRCm39)	E886G	unknown	Het
Ccnb2	A	T	9: 70,317,559 (GRCm39)		probably null	Het
Cd276	T	C	9: 58,442,838 (GRCm39)	S206G	probably damaging	Het
Cds1	T	A	5: 101,965,828 (GRCm39)		probably benign	Het
Cfap96	G	A	8: 46,409,515 (GRCm39)	S268L	probably benign	Het
Chuk	T	C	19: 44,065,812 (GRCm39)	S661G	possibly damaging	Het
Col17a1	T	C	19: 47,639,276 (GRCm39)	N1090D	probably benign	Het
Col3a1	A	T	1: 45,367,026 (GRCm39)		probably null	Het
Crispld1	G	T	1: 17,821,024 (GRCm39)	V355F	possibly damaging	Het
Cspg4	A	T	9: 56,806,151 (GRCm39)	R2321W	probably damaging	Het
Dnmt3a	A	T	12: 3,951,660 (GRCm39)	Y679F	probably damaging	Het
Dzip3	A	T	16: 48,798,241 (GRCm39)		probably benign	Het
Eif3l	T	C	15: 78,968,381 (GRCm39)	S217P	possibly damaging	Het
Fbxo42	T	A	4: 140,925,417 (GRCm39)		probably benign	Het
Fhod1	A	T	8: 106,063,957 (GRCm39)		probably benign	Het
Fzd1	T	A	5: 4,806,278 (GRCm39)	I435F	probably damaging	Het
Gapvd1	C	T	2: 34,602,207 (GRCm39)	V647I	possibly damaging	Het
Gm14496	T	C	2: 181,638,002 (GRCm39)	S359P	possibly damaging	Het
Gm5218	C	A	15: 81,383,741 (GRCm39)		noncoding transcript	Het
Hnrnph3	A	G	10: 62,851,579 (GRCm39)		probably null	Het
Hsd17b12	G	T	2: 93,864,321 (GRCm39)	T262K	probably damaging	Het
Igsf10	G	C	3: 59,237,838 (GRCm39)	P781R	probably damaging	Het
Il11ra1	T	A	4: 41,768,207 (GRCm39)	S373T	probably damaging	Het
Kdm3b	A	G	18: 34,942,345 (GRCm39)	D612G	probably damaging	Het
Ldb1	T	C	19: 46,022,903 (GRCm39)	T261A	probably damaging	Het
Lep	C	A	6: 29,069,089 (GRCm39)	H47N	possibly damaging	Het
Lrrtm2	A	T	18: 35,346,428 (GRCm39)	S291R	possibly damaging	Het
Ncor2	T	C	5: 125,162,062 (GRCm39)	Q404R	unknown	Het
Nlrp4d	T	C	7: 10,116,437 (GRCm39)	H148R	probably benign	Het
Nlrp9a	T	A	7: 26,258,093 (GRCm39)	D570E	probably benign	Het
Nphp3	G	A	9: 103,886,413 (GRCm39)	V202I	probably damaging	Het
Nptn	T	A	9: 58,548,073 (GRCm39)	N159K	probably benign	Het
Or4a69	T	A	2: 89,313,315 (GRCm39)	T55S	probably benign	Het
Or4a72	A	T	2: 89,405,746 (GRCm39)	V108D	possibly damaging	Het
Or51f2	G	A	7: 102,526,980 (GRCm39)	V218I	probably benign	Het
Or52a24	A	T	7: 103,381,585 (GRCm39)	T151S	possibly damaging	Het
Or8b53	A	T	9: 38,667,716 (GRCm39)	H244L	probably damaging	Het
Pcolce	T	A	5: 137,608,769 (GRCm39)	R13*	probably null	Het
Pdgfra	A	G	5: 75,353,264 (GRCm39)	Y1018C	probably damaging	Het
Prima1	A	G	12: 103,201,854 (GRCm39)	S74P	probably damaging	Het
Prl7c1	A	G	13: 27,962,838 (GRCm39)	L55P	probably damaging	Het
Rasef	A	G	4: 73,658,574 (GRCm39)	V513A	probably damaging	Het
Rgs1	T	C	1: 144,121,227 (GRCm39)		probably null	Het
Rlf	T	C	4: 121,005,488 (GRCm39)	E1164G	probably benign	Het
Rnf213	A	T	11: 119,354,171 (GRCm39)	N4016I	probably damaging	Het
Sae1	C	T	7: 16,064,537 (GRCm39)		probably null	Het
Serping1	A	T	2: 84,601,848 (GRCm39)	D207E	probably benign	Het
Setd2	T	A	9: 110,380,464 (GRCm39)	D33E	unknown	Het
Simc1	T	C	13: 54,673,071 (GRCm39)	M473T	probably benign	Het
Slc30a6	T	A	17: 74,725,610 (GRCm39)		probably benign	Het
Slc4a5	T	C	6: 83,242,669 (GRCm39)	L346P	probably damaging	Het
Spef2	T	A	15: 9,596,660 (GRCm39)	Q1473L	probably damaging	Het
St3gal3	G	T	4: 117,817,204 (GRCm39)	A44D	possibly damaging	Het
Sv2b	G	T	7: 74,797,425 (GRCm39)	T323K	probably damaging	Het
Sycp2	T	A	2: 177,993,461 (GRCm39)	N1228I	possibly damaging	Het
Thbs2	T	A	17: 14,910,030 (GRCm39)	M190L	probably benign	Het
Tnrc6a	G	A	7: 122,776,098 (GRCm39)	V1190I	probably benign	Het
Utrn	A	T	10: 12,312,029 (GRCm39)	I673K	possibly damaging	Het
Vmn2r114	C	T	17: 23,510,675 (GRCm39)	V602M	probably damaging	Het
Wdr7	A	T	18: 64,057,989 (GRCm39)	I1273L	probably benign	Het
Zfp618	T	C	4: 63,051,175 (GRCm39)	L652P	probably damaging	Het
Zfp804a	G	A	2: 81,884,095 (GRCm39)		probably benign	Het

Other mutations in Dner

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01434:Dner	APN	1	84,361,731 (GRCm39)	missense	probably benign	0.13
IGL02251:Dner	APN	1	84,361,747 (GRCm39)	missense	probably damaging	1.00
IGL02904:Dner	APN	1	84,512,665 (GRCm39)	missense	probably damaging	0.96
IGL03063:Dner	APN	1	84,563,059 (GRCm39)	missense	possibly damaging	0.90
R0013:Dner	UTSW	1	84,472,614 (GRCm39)	splice site	probably benign
R0112:Dner	UTSW	1	84,560,774 (GRCm39)	missense	probably benign	0.06
R0196:Dner	UTSW	1	84,348,553 (GRCm39)	missense	probably damaging	1.00
R0282:Dner	UTSW	1	84,423,101 (GRCm39)	splice site	probably benign
R0282:Dner	UTSW	1	84,383,686 (GRCm39)	missense	probably damaging	1.00
R0942:Dner	UTSW	1	84,563,030 (GRCm39)	splice site	probably benign
R1143:Dner	UTSW	1	84,423,185 (GRCm39)	missense	probably damaging	1.00
R1483:Dner	UTSW	1	84,563,270 (GRCm39)	utr 5 prime	probably benign
R1636:Dner	UTSW	1	84,563,051 (GRCm39)	missense	possibly damaging	0.89
R1739:Dner	UTSW	1	84,348,505 (GRCm39)	missense	probably damaging	0.99
R1756:Dner	UTSW	1	84,423,311 (GRCm39)	missense	probably damaging	0.98
R1960:Dner	UTSW	1	84,423,177 (GRCm39)	missense	probably damaging	0.98
R2061:Dner	UTSW	1	84,383,710 (GRCm39)	missense	probably damaging	1.00
R2157:Dner	UTSW	1	84,361,659 (GRCm39)	missense	possibly damaging	0.88
R2265:Dner	UTSW	1	84,563,270 (GRCm39)	utr 5 prime	probably benign
R2382:Dner	UTSW	1	84,348,544 (GRCm39)	missense	probably damaging	1.00
R2507:Dner	UTSW	1	84,560,801 (GRCm39)	missense	probably damaging	1.00
R3053:Dner	UTSW	1	84,361,747 (GRCm39)	missense	probably damaging	1.00
R3917:Dner	UTSW	1	84,563,270 (GRCm39)	utr 5 prime	probably benign
R4530:Dner	UTSW	1	84,560,736 (GRCm39)	missense	probably damaging	1.00
R4552:Dner	UTSW	1	84,361,578 (GRCm39)	missense	probably damaging	1.00
R4579:Dner	UTSW	1	84,361,537 (GRCm39)	missense	probably damaging	0.97
R4593:Dner	UTSW	1	84,673,449 (GRCm39)	start codon destroyed	probably null
R4711:Dner	UTSW	1	84,361,618 (GRCm39)	missense	possibly damaging	0.75
R5102:Dner	UTSW	1	84,383,691 (GRCm39)	missense	probably damaging	1.00
R5314:Dner	UTSW	1	84,558,460 (GRCm39)	missense	probably damaging	1.00
R5370:Dner	UTSW	1	84,563,270 (GRCm39)	utr 5 prime	probably benign
R6000:Dner	UTSW	1	84,361,650 (GRCm39)	missense	possibly damaging	0.80
R6644:Dner	UTSW	1	84,373,428 (GRCm39)	missense	probably damaging	1.00
R6764:Dner	UTSW	1	84,472,502 (GRCm39)	missense	probably damaging	1.00
R6948:Dner	UTSW	1	84,383,738 (GRCm39)	missense	probably damaging	1.00
R6991:Dner	UTSW	1	84,454,123 (GRCm39)	nonsense	probably null
R7056:Dner	UTSW	1	84,558,457 (GRCm39)	missense	possibly damaging	0.75
R7410:Dner	UTSW	1	84,563,332 (GRCm39)	missense	probably damaging	1.00
R7490:Dner	UTSW	1	84,563,270 (GRCm39)	utr 5 prime	probably benign
R7869:Dner	UTSW	1	84,361,602 (GRCm39)	missense	probably benign	0.10
R7938:Dner	UTSW	1	84,673,218 (GRCm39)	missense	possibly damaging	0.62
R8253:Dner	UTSW	1	84,512,598 (GRCm39)	missense	probably damaging	1.00
R9016:Dner	UTSW	1	84,673,226 (GRCm39)	missense	probably benign	0.05
R9170:Dner	UTSW	1	84,512,647 (GRCm39)	missense	probably damaging	1.00
R9254:Dner	UTSW	1	84,673,193 (GRCm39)	missense	probably benign	0.03
R9763:Dner	UTSW	1	84,361,656 (GRCm39)	missense	possibly damaging	0.75
Z1176:Dner	UTSW	1	84,361,701 (GRCm39)	missense	possibly damaging	0.88
Z1177:Dner	UTSW	1	84,423,154 (GRCm39)	missense	probably damaging	0.99
Z1177:Dner	UTSW	1	84,423,151 (GRCm39)	missense	probably damaging	1.00
Z1177:Dner	UTSW	1	84,383,710 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTGCCTGAGCAACCTAGACCTTG -3'
(R):5'- ATCCTTGTGCCAGCAACCCTTG -3'

Sequencing Primer
(F):5'- gcctggcatctgtaaagttc -3'
(R):5'- CCAGCAACCCTTGTCACC -3'

Posted On

2014-04-24