Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:Dnlz'

244943

Institutional Source

Beutler Lab

Gene Symbol

Dnlz

Ensembl Gene

ENSMUSG00000075467

Gene Name

DNL-type zinc finger

Synonyms

1110034G11Rik, D2Bwg1335e

Accession Numbers

Essential gene?

Probably essential (E-score: 0.876) question?

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26238133-26242122 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26241483 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 82 (C82S)

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: C82S

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

SMART Domains

Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467
AA Change: C82S

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: ENSMUST00000147873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153370

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125848

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125198

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142057

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

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Abcb10	G	T	8: 124,709,491 (GRCm39)	A21E	probably benign	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Aqp4	A	G	18: 15,526,537 (GRCm39)	S315P	probably benign	Het
Atp7b	T	C	8: 22,510,848 (GRCm39)	I433V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Car5a	C	T	8: 122,671,408 (GRCm39)		probably null	Het
Cdk11b	T	A	4: 155,732,051 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Egr4	A	T	6: 85,489,725 (GRCm39)	F112I	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat4	T	A	3: 39,050,048 (GRCm39)	V3970D	possibly damaging	Het
Fbxw5	C	A	2: 25,394,773 (GRCm39)	C222*	probably null	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Ghr	A	G	15: 3,349,507 (GRCm39)	V557A	probably benign	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr155	A	G	2: 73,178,479 (GRCm39)		probably null	Het
Gucy2f	A	T	X: 140,899,269 (GRCm39)	M697K	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Irf8	A	G	8: 121,480,266 (GRCm39)	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,131,632 (GRCm39)	Y100C	possibly damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mta1	C	T	12: 113,091,770 (GRCm39)	S291L	probably damaging	Het
Myh2	A	G	11: 67,081,184 (GRCm39)	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,895,506 (GRCm39)		probably null	Het
Nexmif	T	G	X: 103,131,452 (GRCm39)	E155A	possibly damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nxph1	G	T	6: 9,247,746 (GRCm39)	C239F	probably damaging	Het
Odc1	A	G	12: 17,598,425 (GRCm39)	I189V	probably benign	Het
Or1n1	A	T	2: 36,750,113 (GRCm39)	N82K	probably damaging	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,608,496 (GRCm39)	L576P	probably damaging	Het
Raph1	T	C	1: 60,537,659 (GRCm39)	D499G	probably damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rtl1	T	C	12: 109,561,101 (GRCm39)	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
St3gal6	T	A	16: 58,309,332 (GRCm39)	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,779,190 (GRCm39)	Q30*	probably null	Het
Tex16	T	A	X: 111,030,838 (GRCm39)	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tmf1	T	A	6: 97,140,547 (GRCm39)	L776F	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,049,126 (GRCm39)	T292I	probably benign	Het
Wdr19	T	A	5: 65,398,334 (GRCm39)	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,705,966 (GRCm39)	M265I	probably benign	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
R0134: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
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'- CAATGGATCCAGGCTCACAC -3'
(R):5'- GGAGTCTTTACAAATGGCTGGG -3'

Sequencing Primer
(F):5'- AGGGCCACAATCTTACTGTC -3'
(R):5'- CTTTACAAATGGCTGGGTGGGAATG -3'

Posted On

2014-10-30