Mutagenetix > Incidental Mutation

Incidental Mutation 'R0134:Dnlz'

21797

Institutional Source

Beutler Lab

Gene Symbol

Dnlz

Ensembl Gene

ENSMUSG00000075467

Gene Name

DNL-type zinc finger

Synonyms

1110034G11Rik, D2Bwg1335e

MMRRC Submission

038419-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

R0134 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

26238133-26242122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26241380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 116 (N116S)

Ref Sequence

ENSEMBL: ENSMUSP00000028295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028294] [ENSMUST00000028295] [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616] [ENSMUST00000100303] [ENSMUST00000114134]

AlphaFold

Q9D113

Predicted Effect

probably benign
Transcript: ENSMUST00000028294

SMART Domains

Protein: ENSMUSP00000028294
Gene: ENSMUSG00000026928

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	3.1e-21	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000028295
AA Change: N116S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467
AA Change: N116S

Domain	Start	End	E-Value	Type
low complexity region	38	67	N/A	INTRINSIC
Pfam:zf-DNL	74	139	4.1e-34	PFAM
low complexity region	158	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000066889

SMART Domains

Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
low complexity region	28	43	N/A	INTRINSIC
TPR	98	131	1.45e-1	SMART
TPR	138	171	7.06e-5	SMART
TPR	238	271	5.96e-3	SMART
TPR	278	311	1.47e-2	SMART
TPR	318	351	5.19e-3	SMART
TPR	358	391	1.33e0	SMART
GoLoco	525	547	7.38e-9	SMART
low complexity region	548	560	N/A	INTRINSIC
GoLoco	578	600	4.24e-9	SMART
GoLoco	626	648	5.22e-9	SMART
GoLoco	660	682	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066936

SMART Domains

Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	493	515	7.38e-9	SMART
low complexity region	516	528	N/A	INTRINSIC
GoLoco	546	568	4.24e-9	SMART
GoLoco	594	616	5.22e-9	SMART
GoLoco	628	650	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078616

SMART Domains

Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
TPR	66	99	1.45e-1	SMART
TPR	106	139	7.06e-5	SMART
TPR	206	239	5.96e-3	SMART
TPR	246	279	1.47e-2	SMART
TPR	286	319	5.19e-3	SMART
TPR	326	359	1.33e0	SMART
GoLoco	433	455	7.38e-9	SMART
low complexity region	456	468	N/A	INTRINSIC
GoLoco	486	508	4.24e-9	SMART
GoLoco	534	556	5.22e-9	SMART
GoLoco	568	590	3.58e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100303

SMART Domains

Protein: ENSMUSP00000097876
Gene: ENSMUSG00000026928

Domain	Start	End	E-Value	Type
Pfam:CARD	11	97	7.1e-22	PFAM
coiled coil region	145	272	N/A	INTRINSIC
coiled coil region	375	415	N/A	INTRINSIC
low complexity region	482	494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114134

SMART Domains

Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
GoLoco	56	78	7.38e-9	SMART
low complexity region	79	91	N/A	INTRINSIC
GoLoco	109	131	4.24e-9	SMART
GoLoco	157	179	5.22e-9	SMART
GoLoco	191	213	3.58e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142057

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125848

Predicted Effect

probably benign
Transcript: ENSMUST00000145884

SMART Domains

Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930

Domain	Start	End	E-Value	Type
Blast:TPR	22	68	1e-9	BLAST
Pfam:TPR_1	82	107	2.3e-4	PFAM
Pfam:TPR_12	82	147	7.9e-12	PFAM
Pfam:TPR_7	84	119	1.4e-5	PFAM
Pfam:TPR_2	122	147	6.2e-4	PFAM
Pfam:TPR_8	123	146	1.4e-2	PFAM
Blast:TPR	150	183	4e-15	BLAST
GoLoco	317	339	7.38e-9	SMART
low complexity region	340	352	N/A	INTRINSIC
GoLoco	370	392	4.24e-9	SMART
GoLoco	418	440	5.22e-9	SMART
GoLoco	452	474	3.58e-7	SMART

Meta Mutation Damage Score

0.7848

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.4%
20x: 93.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,565 (GRCm39)		probably benign	Het
Abca16	T	A	7: 120,139,378 (GRCm39)	L1470Q	probably damaging	Het
Arhgap23	G	T	11: 97,335,154 (GRCm39)	V70L	probably benign	Het
Bicd1	T	C	6: 149,414,448 (GRCm39)	I387T	probably benign	Het
Btbd9	C	T	17: 30,493,916 (GRCm39)	D492N	possibly damaging	Het
Cd59b	G	A	2: 103,909,286 (GRCm39)		probably null	Het
Ddx50	A	T	10: 62,457,156 (GRCm39)		probably benign	Het
Dele1	G	A	18: 38,394,317 (GRCm39)	V505I	probably benign	Het
Efcab14	T	C	4: 115,597,728 (GRCm39)	F108L	probably damaging	Het
Esyt2	A	G	12: 116,331,330 (GRCm39)	N736S	probably damaging	Het
Exoc4	A	G	6: 33,948,881 (GRCm39)	D908G	possibly damaging	Het
Garnl3	T	C	2: 32,896,816 (GRCm39)	T608A	possibly damaging	Het
Hdac2	T	A	10: 36,865,180 (GRCm39)	D131E	probably benign	Het
Hes1	T	C	16: 29,886,068 (GRCm39)	V224A	probably damaging	Het
Hps1	G	T	19: 42,754,619 (GRCm39)	Q277K	probably damaging	Het
Ighv15-2	T	G	12: 114,528,657 (GRCm39)		probably benign	Het
Il3	A	G	11: 54,156,506 (GRCm39)		probably null	Het
Itgae	A	C	11: 73,002,168 (GRCm39)	M91L	probably benign	Het
Kctd21	T	A	7: 96,997,298 (GRCm39)	I257N	probably benign	Het
Kif16b	A	T	2: 142,514,295 (GRCm39)	S1215T	probably benign	Het
Lhx9	A	T	1: 138,766,417 (GRCm39)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,479,006 (GRCm39)	V278A	probably benign	Het
Lrp1b	T	C	2: 40,486,995 (GRCm39)	E142G	probably damaging	Het
Macf1	T	C	4: 123,326,636 (GRCm39)	M2835V	possibly damaging	Het
Map9	G	A	3: 82,267,290 (GRCm39)		probably benign	Het
Miox	C	T	15: 89,218,657 (GRCm39)		probably benign	Het
Mndal	A	T	1: 173,685,079 (GRCm39)		probably benign	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Nepn	A	T	10: 52,276,533 (GRCm39)	T29S	probably damaging	Het
Nlgn1	C	T	3: 25,490,089 (GRCm39)	C546Y	probably damaging	Het
Or14a260	A	G	7: 85,984,803 (GRCm39)	I267T	probably benign	Het
Or8k53	T	C	2: 86,178,072 (GRCm39)	I13V	possibly damaging	Het
Pdgfra	A	G	5: 75,327,172 (GRCm39)	D123G	probably damaging	Het
Plekhn1	T	C	4: 156,312,700 (GRCm39)	R53G	probably benign	Het
Pnp2	T	C	14: 51,200,634 (GRCm39)	F100S	probably damaging	Het
Prickle1	A	G	15: 93,408,658 (GRCm39)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,695,459 (GRCm39)	C309S	probably benign	Het
Rimoc1	T	C	15: 4,015,776 (GRCm39)	K263E	probably damaging	Het
Rxfp1	A	G	3: 79,564,783 (GRCm39)	S327P	probably damaging	Het
Siah2	A	G	3: 58,583,536 (GRCm39)	V250A	probably damaging	Het
Siglecg	G	A	7: 43,060,595 (GRCm39)	G325D	probably damaging	Het
Slc10a7	T	A	8: 79,423,787 (GRCm39)		probably null	Het
Slc9a1	A	G	4: 133,147,916 (GRCm39)	K645E	probably benign	Het
Smarca4	T	C	9: 21,548,620 (GRCm39)	L302P	probably damaging	Het
Smyd1	G	T	6: 71,193,749 (GRCm39)	T392N	probably damaging	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Tenm3	A	T	8: 49,127,507 (GRCm39)	L57Q	probably damaging	Het
Tep1	C	T	14: 51,067,150 (GRCm39)	V2269I	possibly damaging	Het
Tpd52l1	A	G	10: 31,255,252 (GRCm39)	S32P	probably damaging	Het
Tsfm	A	G	10: 126,858,798 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,540,468 (GRCm39)	R34173W	probably damaging	Het
Ttn	C	A	2: 76,623,474 (GRCm39)	V15368L	possibly damaging	Het
Vmn2r13	C	A	5: 109,322,915 (GRCm39)	V125L	probably benign	Het
Vps13b	T	C	15: 35,887,407 (GRCm39)	I3272T	probably benign	Het
Zfp108	A	G	7: 23,959,892 (GRCm39)	H161R	probably benign	Het
Zfp518b	A	G	5: 38,832,002 (GRCm39)	M1T	probably null	Het

Other mutations in Dnlz

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0123:Dnlz	UTSW	2	26,241,380 (GRCm39)	missense	probably damaging	1.00
R0225:Dnlz	UTSW	2	26,241,380 (GRCm39)	missense	probably damaging	1.00
R0799:Dnlz	UTSW	2	26,241,485 (GRCm39)	missense	possibly damaging	0.91
R2273:Dnlz	UTSW	2	26,241,483 (GRCm39)	missense	probably damaging	1.00
R2274:Dnlz	UTSW	2	26,241,483 (GRCm39)	missense	probably damaging	1.00
R2275:Dnlz	UTSW	2	26,241,483 (GRCm39)	missense	probably damaging	1.00
R5750:Dnlz	UTSW	2	26,241,423 (GRCm39)	missense	probably damaging	1.00
X0026:Dnlz	UTSW	2	26,240,566 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGCCACTGATCCCTCCTCATAGAAC -3'
(R):5'- AGAGACTTTCCTGTGTATGCCTTGC -3'

Sequencing Primer
(F):5'- CACTAGAGATTGATAAGGCCCCTG -3'
(R):5'- GTGTATGCCTTGCCTGACC -3'

Posted On

2013-04-12