Incidental Mutation 'R2199:Ctdspl2'
ID |
238541 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ctdspl2
|
Ensembl Gene |
ENSMUSG00000033411 |
Gene Name |
CTD small phosphatase like 2 |
Synonyms |
SCP4, D2Ertd485e |
MMRRC Submission |
040201-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R2199 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
121786482-121844123 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 121817510 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036647]
[ENSMUST00000110572]
[ENSMUST00000110572]
[ENSMUST00000110574]
[ENSMUST00000110574]
[ENSMUST00000110578]
|
AlphaFold |
Q8BG15 |
Predicted Effect |
probably null
Transcript: ENSMUST00000036647
|
SMART Domains |
Protein: ENSMUSP00000047543 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110572
|
SMART Domains |
Protein: ENSMUSP00000106201 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110572
|
SMART Domains |
Protein: ENSMUSP00000106201 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
214 |
358 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110574
|
SMART Domains |
Protein: ENSMUSP00000106203 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110574
|
SMART Domains |
Protein: ENSMUSP00000106203 Gene: ENSMUSG00000033411
Domain | Start | End | E-Value | Type |
CPDc
|
285 |
429 |
4.19e-71 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000110578
|
SMART Domains |
Protein: ENSMUSP00000106207 Gene: ENSMUSG00000033411
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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,554,598 (GRCm39) |
I119V |
probably benign |
Het |
Arfgap2 |
T |
A |
2: 91,096,037 (GRCm39) |
|
probably null |
Het |
Ccm2 |
T |
C |
11: 6,540,790 (GRCm39) |
V216A |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,283,527 (GRCm39) |
T2769A |
probably benign |
Het |
Dnah3 |
C |
T |
7: 119,550,792 (GRCm39) |
V3165M |
possibly damaging |
Het |
Dnajc1 |
A |
C |
2: 18,313,710 (GRCm39) |
F137C |
probably damaging |
Het |
Gli2 |
A |
T |
1: 118,765,378 (GRCm39) |
D924E |
possibly damaging |
Het |
Gnrhr |
T |
C |
5: 86,345,677 (GRCm39) |
N3S |
probably benign |
Het |
Grhl1 |
G |
T |
12: 24,662,169 (GRCm39) |
R536L |
probably damaging |
Het |
Hormad1 |
T |
C |
3: 95,475,033 (GRCm39) |
|
probably null |
Het |
Il20 |
T |
A |
1: 130,838,476 (GRCm39) |
I74L |
probably benign |
Het |
Ints11 |
A |
G |
4: 155,959,738 (GRCm39) |
K115R |
probably benign |
Het |
Irx4 |
A |
T |
13: 73,413,720 (GRCm39) |
E63D |
probably benign |
Het |
Itch |
A |
C |
2: 155,044,141 (GRCm39) |
Q482P |
probably benign |
Het |
Kctd8 |
C |
A |
5: 69,498,588 (GRCm39) |
M19I |
probably benign |
Het |
Klhl31 |
T |
C |
9: 77,557,383 (GRCm39) |
L33P |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,382,709 (GRCm39) |
C3691S |
probably damaging |
Het |
Lrrc39 |
A |
G |
3: 116,364,610 (GRCm39) |
D167G |
probably damaging |
Het |
Lrrd1 |
A |
T |
5: 3,916,478 (GRCm39) |
I832L |
possibly damaging |
Het |
Lrriq1 |
A |
G |
10: 102,904,774 (GRCm39) |
V1620A |
probably damaging |
Het |
Ltbr |
T |
C |
6: 125,289,024 (GRCm39) |
K213E |
probably benign |
Het |
Megf8 |
T |
A |
7: 25,039,039 (GRCm39) |
D883E |
possibly damaging |
Het |
Nherf2 |
T |
C |
17: 24,859,570 (GRCm39) |
E174G |
probably null |
Het |
Nmt1 |
T |
A |
11: 102,954,682 (GRCm39) |
S405T |
probably damaging |
Het |
Nsd3 |
G |
T |
8: 26,156,073 (GRCm39) |
V547F |
probably damaging |
Het |
Or4c110 |
A |
G |
2: 88,831,894 (GRCm39) |
V246A |
probably damaging |
Het |
Or7g16 |
C |
A |
9: 18,727,219 (GRCm39) |
V124F |
probably damaging |
Het |
Otud7a |
A |
G |
7: 63,407,404 (GRCm39) |
K569R |
possibly damaging |
Het |
Otud7b |
A |
G |
3: 96,063,089 (GRCm39) |
Y776C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,006,341 (GRCm39) |
I73T |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,350,835 (GRCm39) |
H3890L |
probably benign |
Het |
Sall3 |
T |
C |
18: 81,015,085 (GRCm39) |
T948A |
probably benign |
Het |
Slc44a3 |
T |
C |
3: 121,307,393 (GRCm39) |
I198V |
probably benign |
Het |
Smg7 |
C |
A |
1: 152,730,079 (GRCm39) |
D405Y |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,711,987 (GRCm39) |
L211S |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,145,895 (GRCm39) |
Y1601C |
probably benign |
Het |
Traf4 |
T |
C |
11: 78,050,806 (GRCm39) |
Y450C |
probably damaging |
Het |
Trpv1 |
A |
G |
11: 73,131,077 (GRCm39) |
K239E |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,585,150 (GRCm39) |
G20302S |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,435,571 (GRCm39) |
S406P |
probably benign |
Het |
Xrn2 |
C |
T |
2: 146,866,670 (GRCm39) |
A80V |
probably damaging |
Het |
Zfp616 |
C |
T |
11: 73,975,456 (GRCm39) |
T575I |
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 |
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'- CCATGTAGTTTGGCATGTTGATAGC -3'
(R):5'- GATGCCTCTATTCATGAGATTATCG -3'
Sequencing Primer
(F):5'- GGTTAATCTAAAATACAGGAAGCTCC -3'
(R):5'- CAATGCAGAGTACTGGTTAGGCC -3'
|
Posted On |
2014-10-02 |