Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02494:Ctdspl'

295775

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ctdspl

Ensembl Gene

ENSMUSG00000047409

Gene Name

CTD small phosphatase like

Synonyms

SCP3, HYA22, 2810418J22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02494

Quality Score

Status

Chromosome

Chromosomal Location

118755521-118873066 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118866484 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 181 (L181P)

Ref Sequence

ENSEMBL: ENSMUSP00000133755 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073109] [ENSMUST00000172464]

AlphaFold

P58465

Predicted Effect

probably damaging
Transcript: ENSMUST00000073109
AA Change: L192P

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

SMART Domains

Protein: ENSMUSP00000072852
Gene: ENSMUSG00000047409
AA Change: L192P

Domain	Start	End	E-Value	Type
CPDc	105	248	1.67e-79	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172464
AA Change: L181P

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

SMART Domains

Protein: ENSMUSP00000133755
Gene: ENSMUSG00000047409
AA Change: L181P

Domain	Start	End	E-Value	Type
CPDc	94	237	1.67e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174841

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(10) : Targeted(1) Gene trapped(9)

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldob	C	T	4: 49,541,138 (GRCm39)	C178Y	possibly damaging	Het
Arg2	A	G	12: 79,198,697 (GRCm39)	R242G	probably benign	Het
Ash1l	T	A	3: 88,973,525 (GRCm39)	L2528*	probably null	Het
Astn2	T	A	4: 65,910,585 (GRCm39)	M468L	probably benign	Het
Bglap2	A	T	3: 88,285,243 (GRCm39)	C74*	probably null	Het
Cand1	A	G	10: 119,049,522 (GRCm39)	V408A	probably benign	Het
Ccdc14	A	G	16: 34,543,784 (GRCm39)	Y714C	probably damaging	Het
Ccdc88c	C	T	12: 100,911,734 (GRCm39)	G707D	probably benign	Het
Cdk13	G	A	13: 17,913,710 (GRCm39)	R890*	probably null	Het
Cep192	A	G	18: 67,937,453 (GRCm39)	E61G	probably benign	Het
Dock7	C	T	4: 98,877,471 (GRCm39)	V442M	probably benign	Het
Dop1a	T	C	9: 86,408,871 (GRCm39)	V1860A	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fscn2	G	A	11: 120,253,228 (GRCm39)	V232M	probably benign	Het
Gemin5	A	T	11: 58,012,583 (GRCm39)	C1458S	probably benign	Het
Glrb	A	G	3: 80,752,539 (GRCm39)	V408A	probably benign	Het
Gtse1	C	T	15: 85,751,704 (GRCm39)	P299L	probably damaging	Het
Hcfc1r1	T	A	17: 23,893,559 (GRCm39)	M46K	probably damaging	Het
Hdc	A	G	2: 126,436,041 (GRCm39)	F610S	probably benign	Het
Hip1	A	T	5: 135,473,645 (GRCm39)	C224*	probably null	Het
Hsd17b10	G	T	X: 150,787,230 (GRCm39)	A241S	probably benign	Het
Igsf10	G	T	3: 59,235,427 (GRCm39)	Q1585K	probably damaging	Het
Kat2b	T	C	17: 53,960,233 (GRCm39)	Y514H	probably damaging	Het
Krt78	T	C	15: 101,862,486 (GRCm39)	I58M	probably benign	Het
Lcat	C	A	8: 106,668,571 (GRCm39)		probably benign	Het
Naca	G	A	10: 127,877,179 (GRCm39)		probably benign	Het
Nbea	T	C	3: 55,712,772 (GRCm39)	K2102E	probably benign	Het
Ocrl	G	A	X: 47,022,315 (GRCm39)	D262N	probably benign	Het
Or1e35	A	C	11: 73,797,550 (GRCm39)	I256S	possibly damaging	Het
Or4b1b	G	A	2: 90,112,295 (GRCm39)	S208F	probably benign	Het
Or4n4	A	T	14: 50,519,683 (GRCm39)	V9D	probably damaging	Het
Or7c19	C	A	8: 85,957,312 (GRCm39)	L63I	possibly damaging	Het
Patj	T	A	4: 98,592,224 (GRCm39)		probably benign	Het
Pcdhb17	G	A	18: 37,618,347 (GRCm39)	A46T	possibly damaging	Het
Phf8	T	C	X: 150,408,227 (GRCm39)	V859A	probably benign	Het
Plec	T	A	15: 76,060,979 (GRCm39)	E3054V	probably damaging	Het
Prr12	C	A	7: 44,678,270 (GRCm39)	K1958N	unknown	Het
Psmf1	A	G	2: 151,582,929 (GRCm39)		probably null	Het
Rsu1	T	C	2: 13,222,002 (GRCm39)		probably null	Het
Samm50	T	C	15: 84,080,015 (GRCm39)	V31A	probably benign	Het
St14	A	G	9: 31,019,941 (GRCm39)	V56A	possibly damaging	Het
Trpc1	T	C	9: 95,590,360 (GRCm39)	N699S	probably damaging	Het
Ttn	A	T	2: 76,574,144 (GRCm39)	M25583K	probably damaging	Het
Utrn	A	G	10: 12,585,798 (GRCm39)	V993A	probably benign	Het

Other mutations in Ctdspl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Ctdspl	UTSW	9	118,849,114 (GRCm39)	critical splice donor site	probably null
R0009:Ctdspl	UTSW	9	118,849,114 (GRCm39)	critical splice donor site	probably null
R1531:Ctdspl	UTSW	9	118,869,650 (GRCm39)	missense	probably damaging	1.00
R6979:Ctdspl	UTSW	9	118,869,598 (GRCm39)	missense	probably damaging	1.00
R7062:Ctdspl	UTSW	9	118,866,538 (GRCm39)	missense	probably damaging	0.99
R7233:Ctdspl	UTSW	9	118,849,114 (GRCm39)	critical splice donor site	probably null
R9474:Ctdspl	UTSW	9	118,866,445 (GRCm39)	missense	probably damaging	1.00
X0024:Ctdspl	UTSW	9	118,866,588 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16