Incidental Mutation 'R5158:Ctdspl2'
ID |
396815 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctdspl2
|
Ensembl Gene |
ENSMUSG00000033411 |
Gene Name |
CTD small phosphatase like 2 |
Synonyms |
SCP4, D2Ertd485e |
MMRRC Submission |
042740-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
R5158 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121786482-121844123 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121811774 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 205
(V205E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036647]
[ENSMUST00000110572]
[ENSMUST00000110574]
[ENSMUST00000110578]
|
AlphaFold |
Q8BG15 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036647
AA Change: V206E
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000047543 Gene: ENSMUSG00000033411 AA Change: V206E
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110572
|
SMART Domains |
Protein: ENSMUSP00000106201 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110574
AA Change: V206E
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000106203 Gene: ENSMUSG00000033411 AA Change: V206E
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110578
AA Change: V205E
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000106207 Gene: ENSMUSG00000033411 AA Change: V205E
Domain | Start | End | E-Value | Type |
CPDc
|
284 |
428 |
4.19e-71 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127265
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131258
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138920
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140570
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
T |
17: 45,825,755 (GRCm39) |
T357I |
probably benign |
Het |
Abca14 |
A |
T |
7: 119,852,652 (GRCm39) |
R872S |
probably benign |
Het |
Adnp2 |
A |
G |
18: 80,180,758 (GRCm39) |
Y47H |
probably damaging |
Het |
Atp6v0d2 |
T |
C |
4: 19,878,292 (GRCm39) |
N327S |
probably damaging |
Het |
Ccdc190 |
A |
G |
1: 169,760,578 (GRCm39) |
R69G |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,901,059 (GRCm39) |
D213G |
probably damaging |
Het |
Clcn4 |
G |
A |
7: 7,294,618 (GRCm39) |
T381I |
possibly damaging |
Het |
Cobl |
A |
G |
11: 12,206,198 (GRCm39) |
F477S |
possibly damaging |
Het |
Dhx37 |
A |
T |
5: 125,492,216 (GRCm39) |
Y1128N |
probably damaging |
Het |
Ehmt2 |
G |
A |
17: 35,130,640 (GRCm39) |
E1085K |
probably damaging |
Het |
Fam149a |
T |
G |
8: 45,803,472 (GRCm39) |
I340L |
possibly damaging |
Het |
Fut9 |
T |
A |
4: 25,620,731 (GRCm39) |
I28F |
probably benign |
Het |
Il36g |
T |
A |
2: 24,082,798 (GRCm39) |
I191K |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,392,816 (GRCm39) |
N716D |
probably benign |
Het |
Itgb7 |
T |
C |
15: 102,125,464 (GRCm39) |
D672G |
probably benign |
Het |
Kat6b |
A |
G |
14: 21,720,054 (GRCm39) |
M1469V |
possibly damaging |
Het |
Kif3a |
T |
C |
11: 53,479,578 (GRCm39) |
F430L |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,179,586 (GRCm39) |
D523G |
unknown |
Het |
Mcf2l |
A |
G |
8: 13,059,715 (GRCm39) |
Q736R |
probably damaging |
Het |
Mpl |
T |
G |
4: 118,313,881 (GRCm39) |
D128A |
probably damaging |
Het |
Myom3 |
T |
A |
4: 135,492,897 (GRCm39) |
C149S |
probably damaging |
Het |
N4bp2 |
A |
G |
5: 65,965,805 (GRCm39) |
I1285V |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,753,149 (GRCm39) |
Q279R |
probably damaging |
Het |
Ndc1 |
T |
G |
4: 107,232,362 (GRCm39) |
S182R |
probably damaging |
Het |
Ngf |
A |
T |
3: 102,427,445 (GRCm39) |
M65L |
possibly damaging |
Het |
Or2n1 |
T |
A |
17: 38,486,345 (GRCm39) |
Y123* |
probably null |
Het |
Pigb |
T |
C |
9: 72,929,683 (GRCm39) |
Y300C |
probably damaging |
Het |
Pla2g2a |
T |
G |
4: 138,560,595 (GRCm39) |
*69G |
probably null |
Het |
Ppp1r12b |
T |
C |
1: 134,814,166 (GRCm39) |
E379G |
probably damaging |
Het |
Ptdss2 |
T |
C |
7: 140,731,684 (GRCm39) |
F164S |
probably benign |
Het |
Ptprc |
T |
C |
1: 138,102,822 (GRCm39) |
T2A |
possibly damaging |
Het |
Ptprq |
T |
A |
10: 107,370,565 (GRCm39) |
N2042I |
probably damaging |
Het |
Rdh10 |
A |
T |
1: 16,178,221 (GRCm39) |
R164S |
probably damaging |
Het |
Sec31a |
A |
T |
5: 100,541,180 (GRCm39) |
I309N |
probably damaging |
Het |
Skint5 |
A |
T |
4: 113,599,409 (GRCm39) |
I710N |
unknown |
Het |
Slc25a30 |
A |
T |
14: 76,008,956 (GRCm39) |
L26Q |
probably damaging |
Het |
Sptan1 |
G |
A |
2: 29,868,455 (GRCm39) |
V34I |
probably damaging |
Het |
Sult1e1 |
A |
T |
5: 87,735,453 (GRCm39) |
I75N |
probably damaging |
Het |
Trpa1 |
A |
G |
1: 14,951,885 (GRCm39) |
V938A |
probably benign |
Het |
Vps16 |
C |
T |
2: 130,283,199 (GRCm39) |
R531C |
probably damaging |
Het |
Zbtb22 |
C |
T |
17: 34,137,423 (GRCm39) |
H523Y |
probably damaging |
Het |
Zfp39 |
G |
A |
11: 58,780,671 (GRCm39) |
T697M |
possibly damaging |
Het |
|
Other mutations in Ctdspl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00984:Ctdspl2
|
APN |
2 |
121,799,767 (GRCm39) |
splice site |
probably benign |
|
IGL02282:Ctdspl2
|
APN |
2 |
121,807,959 (GRCm39) |
splice site |
probably benign |
|
IGL02934:Ctdspl2
|
APN |
2 |
121,809,490 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03100:Ctdspl2
|
APN |
2 |
121,809,394 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03285:Ctdspl2
|
APN |
2 |
121,817,480 (GRCm39) |
missense |
probably damaging |
0.99 |
R0105:Ctdspl2
|
UTSW |
2 |
121,807,801 (GRCm39) |
splice site |
probably benign |
|
R0521:Ctdspl2
|
UTSW |
2 |
121,837,368 (GRCm39) |
nonsense |
probably null |
|
R1406:Ctdspl2
|
UTSW |
2 |
121,837,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1406:Ctdspl2
|
UTSW |
2 |
121,837,349 (GRCm39) |
missense |
probably damaging |
1.00 |
R1466:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
R1466:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
R1468:Ctdspl2
|
UTSW |
2 |
121,811,762 (GRCm39) |
missense |
probably benign |
|
R1468:Ctdspl2
|
UTSW |
2 |
121,811,762 (GRCm39) |
missense |
probably benign |
|
R1584:Ctdspl2
|
UTSW |
2 |
121,834,410 (GRCm39) |
missense |
probably benign |
0.40 |
R2199:Ctdspl2
|
UTSW |
2 |
121,817,510 (GRCm39) |
critical splice donor site |
probably null |
|
R2367:Ctdspl2
|
UTSW |
2 |
121,817,499 (GRCm39) |
missense |
probably benign |
0.33 |
R4868:Ctdspl2
|
UTSW |
2 |
121,823,879 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5338:Ctdspl2
|
UTSW |
2 |
121,811,793 (GRCm39) |
missense |
probably benign |
0.15 |
R5391:Ctdspl2
|
UTSW |
2 |
121,834,629 (GRCm39) |
critical splice donor site |
probably null |
|
R5914:Ctdspl2
|
UTSW |
2 |
121,809,414 (GRCm39) |
missense |
probably damaging |
1.00 |
R6009:Ctdspl2
|
UTSW |
2 |
121,819,319 (GRCm39) |
missense |
probably benign |
0.01 |
R6196:Ctdspl2
|
UTSW |
2 |
121,809,373 (GRCm39) |
splice site |
probably null |
|
R6676:Ctdspl2
|
UTSW |
2 |
121,837,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Ctdspl2
|
UTSW |
2 |
121,837,362 (GRCm39) |
missense |
possibly damaging |
0.66 |
R8170:Ctdspl2
|
UTSW |
2 |
121,837,423 (GRCm39) |
missense |
probably benign |
0.08 |
R9086:Ctdspl2
|
UTSW |
2 |
121,838,298 (GRCm39) |
critical splice donor site |
probably null |
|
R9105:Ctdspl2
|
UTSW |
2 |
121,837,351 (GRCm39) |
missense |
probably damaging |
1.00 |
R9281:Ctdspl2
|
UTSW |
2 |
121,841,063 (GRCm39) |
missense |
probably benign |
0.00 |
X0064:Ctdspl2
|
UTSW |
2 |
121,834,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGAAGTGATTCATGGTTTGTTGATAA -3'
(R):5'- TGACAGGATTCAGGGACAAATCT -3'
Sequencing Primer
(F):5'- GTTGATAAACAATTCCAGGAACGTC -3'
(R):5'- ATGCTCACAGTCAGCTATTGG -3'
|
Posted On |
2016-06-21 |