Incidental Mutation 'R1406:Ctdspl2'
| ID |
188727 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ctdspl2
|
| Ensembl Gene |
ENSMUSG00000033411 |
| Gene Name |
CTD small phosphatase like 2 |
| Synonyms |
SCP4, D2Ertd485e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
121786482-121844123 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 121837349 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 371
(R371Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036647]
[ENSMUST00000110572]
[ENSMUST00000110574]
[ENSMUST00000110578]
|
| AlphaFold |
Q8BG15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036647
AA Change: R372Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047543
Gene: ENSMUSG00000033411
AA Change: R372Q
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110572
AA Change: R301Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106201
Gene: ENSMUSG00000033411
AA Change: R301Q
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110574
AA Change: R372Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106203
Gene: ENSMUSG00000033411
AA Change: R372Q
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110578
AA Change: R371Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106207
Gene: ENSMUSG00000033411
AA Change: R371Q
| Domain | Start | End | E-Value | Type |
|---|
|
CPDc
|
284 |
428 |
4.19e-71 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127265
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140570
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Dctn4 |
T |
A |
18: 60,689,402 (GRCm39) |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,366,611 (GRCm39) |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,034,643 (GRCm39) |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,552,875 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably 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 |
|
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 |
|
R5158:Ctdspl2
|
UTSW |
2 |
121,811,774 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- GCTGCATCTGAGCTGAGCTTTCC -3'
(R):5'- GACCAAGCCCTTGCTAAAACCATCTA -3'
Sequencing Primer
(F):5'- TGACATGGTATAAACCAACATTTTTC -3'
(R):5'- ACAACCCTCTAAGTCTATCTTCAG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation