Mutagenetix > Incidental Mutation

Incidental Mutation 'R3932:Ctdnep1'

308512

Institutional Source

Beutler Lab

Gene Symbol

Ctdnep1

Ensembl Gene

ENSMUSG00000018559

Gene Name

CTD nuclear envelope phosphatase 1

Synonyms

Dullard, 2610507E10Rik

MMRRC Submission

040919-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3932 (G1)

Quality Score

188

Status

Validated

Chromosome

Chromosomal Location

69871994-69881427 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 69880400 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018711] [ENSMUST00000108592] [ENSMUST00000108593] [ENSMUST00000141623]

AlphaFold

Q3TP92

Predicted Effect

probably benign
Transcript: ENSMUST00000018711

SMART Domains

Protein: ENSMUSP00000018711
Gene: ENSMUSG00000018567

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	116	1.8e-51	PFAM
Pfam:APG12	30	116	6.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108592

SMART Domains

Protein: ENSMUSP00000104233
Gene: ENSMUSG00000018567

Domain	Start	End	E-Value	Type
Pfam:Atg8	13	93	5.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108593

SMART Domains

Protein: ENSMUSP00000104234
Gene: ENSMUSG00000018559

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
CPDc	60	212	7.35e-76	SMART
low complexity region	214	224	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131531

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139007

Predicted Effect

probably benign
Transcript: ENSMUST00000141623

SMART Domains

Protein: ENSMUSP00000137199
Gene: ENSMUSG00000018559

Domain	Start	End	E-Value	Type
CPDc	1	79	6.29e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144443

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

100% (52/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, abnormal extraembryonic tissue development, poorly developed head fold and trunk and severely reduced primordial germ cell numbers due to a failure to transit to mesoderm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	C	T	7: 81,123,598 (GRCm39)		probably benign	Het
Arl1	C	T	10: 88,569,398 (GRCm39)		probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp10a	T	C	7: 58,476,852 (GRCm39)	M1189T	possibly damaging	Het
Bcl2l14	A	G	6: 134,400,771 (GRCm39)	D64G	probably damaging	Het
Cdc34b	G	A	11: 94,633,441 (GRCm39)	V214M	probably benign	Het
Cfap54	T	C	10: 92,665,619 (GRCm39)	T2985A	probably benign	Het
Clcc1	T	C	3: 108,580,682 (GRCm39)	M332T	probably damaging	Het
Coch	T	C	12: 51,650,121 (GRCm39)	I370T	probably damaging	Het
Edar	C	T	10: 58,446,164 (GRCm39)	C221Y	probably damaging	Het
Fam135b	T	A	15: 71,322,280 (GRCm39)	Q1295L	probably benign	Het
Fam184a	C	T	10: 53,575,397 (GRCm39)	A71T	probably damaging	Het
Fbxw10	A	G	11: 62,759,983 (GRCm39)		probably benign	Het
Frmd4a	T	C	2: 4,542,071 (GRCm39)	W247R	probably damaging	Het
Gcn1	A	G	5: 115,725,893 (GRCm39)	H553R	probably benign	Het
Grin3a	C	T	4: 49,672,472 (GRCm39)		probably null	Het
H2-Q6	C	T	17: 35,644,542 (GRCm39)		probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hspg2	T	C	4: 137,242,879 (GRCm39)	V670A	probably damaging	Het
Med10	A	G	13: 69,958,101 (GRCm39)	N18D	probably damaging	Het
Mgat4b	T	A	11: 50,124,165 (GRCm39)	H368Q	possibly damaging	Het
Morn5	C	A	2: 35,943,035 (GRCm39)	T45N	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Msl3	C	T	X: 167,454,813 (GRCm39)	A87T	probably damaging	Het
Myrf	T	C	19: 10,195,515 (GRCm39)	T432A	probably damaging	Het
Nalf2	G	A	X: 98,865,470 (GRCm39)	V266M	possibly damaging	Het
Nav3	T	A	10: 109,529,896 (GRCm39)	E2148D	probably damaging	Het
Nfe2l3	A	G	6: 51,433,595 (GRCm39)	T236A	possibly damaging	Het
Odc1	T	A	12: 17,598,801 (GRCm39)	F227Y	probably benign	Het
Opa1	A	T	16: 29,429,698 (GRCm39)	E401D	probably damaging	Het
Or5b21	T	C	19: 12,839,994 (GRCm39)	M285T	possibly damaging	Het
Pdcd1	T	C	1: 93,968,989 (GRCm39)	I110V	probably benign	Het
Pde5a	G	A	3: 122,554,545 (GRCm39)	E212K	probably damaging	Het
Plin4	A	G	17: 56,413,704 (GRCm39)	I307T	probably benign	Het
Rag1	T	C	2: 101,473,384 (GRCm39)	Y586C	probably damaging	Het
Rgs7bp	T	C	13: 105,189,506 (GRCm39)	M98V	probably benign	Het
Rgs9	A	G	11: 109,166,639 (GRCm39)		probably benign	Het
Rin3	A	G	12: 102,356,342 (GRCm39)	D961G	probably damaging	Het
Rubcn	A	G	16: 32,649,629 (GRCm39)		probably null	Het
Slc13a2	T	A	11: 78,289,226 (GRCm39)	Y495F	probably damaging	Het
Tfec	T	A	6: 16,845,458 (GRCm39)	D67V	probably damaging	Het
Tmem94	T	C	11: 115,680,080 (GRCm39)	M30T	probably benign	Het
Tsbp1	A	G	17: 34,662,417 (GRCm39)	T86A	possibly damaging	Het
Tubgcp6	A	G	15: 88,988,617 (GRCm39)		probably benign	Het
Vmn2r10	C	A	5: 109,150,088 (GRCm39)	A319S	possibly damaging	Het
Vmn2r85	T	C	10: 130,254,336 (GRCm39)	M783V	probably damaging	Het
Zfp422	T	C	6: 116,603,420 (GRCm39)	K193R	probably benign	Het
Zfp94	T	G	7: 24,003,112 (GRCm39)	D110A	probably benign	Het

Other mutations in Ctdnep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03246:Ctdnep1	APN	11	69,875,156 (GRCm39)	unclassified	probably benign
R0118:Ctdnep1	UTSW	11	69,879,557 (GRCm39)	critical splice donor site	probably null
R1521:Ctdnep1	UTSW	11	69,879,461 (GRCm39)	missense	probably damaging	1.00
R2980:Ctdnep1	UTSW	11	69,879,497 (GRCm39)	missense	probably damaging	0.97
R4117:Ctdnep1	UTSW	11	69,879,497 (GRCm39)	missense	probably damaging	0.97
R5383:Ctdnep1	UTSW	11	69,875,222 (GRCm39)	unclassified	probably benign
R5485:Ctdnep1	UTSW	11	69,872,316 (GRCm39)	missense	possibly damaging	0.93
R5913:Ctdnep1	UTSW	11	69,879,691 (GRCm39)	missense	probably damaging	1.00
R6214:Ctdnep1	UTSW	11	69,880,334 (GRCm39)	missense	probably damaging	1.00
R6706:Ctdnep1	UTSW	11	69,875,138 (GRCm39)	missense	probably benign
R7733:Ctdnep1	UTSW	11	69,880,835 (GRCm39)	missense	probably damaging	1.00
R8312:Ctdnep1	UTSW	11	69,879,527 (GRCm39)	missense	probably benign
R8921:Ctdnep1	UTSW	11	69,875,311 (GRCm39)	missense	probably damaging	0.97
R9376:Ctdnep1	UTSW	11	69,875,594 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTACCTCAAGCTGGTG -3'
(R):5'- TGGAGTAAGAAGACCTGGCC -3'

Sequencing Primer
(F):5'- ACCTCAAGCTGGTGTCAAATCTG -3'
(R):5'- TGGCCCAAACACTTAGACTCTG -3'

Posted On

2015-04-17