Incidental Mutation 'R7992:Scaper'
ID |
651819 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Scaper
|
Ensembl Gene |
ENSMUSG00000034007 |
Gene Name |
S phase cyclin A-associated protein in the ER |
Synonyms |
Zfp291, D530014O03Rik |
MMRRC Submission |
046033-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.629)
|
Stock # |
R7992 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55765438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 550
(H550R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
AlphaFold |
F8VQ70 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037408
AA Change: H550R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000043411 Gene: ENSMUSG00000034007 AA Change: H550R
Domain | Start | End | E-Value | Type |
Pfam:SCAPER_N
|
88 |
185 |
3.4e-47 |
PFAM |
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
coiled coil region
|
415 |
466 |
N/A |
INTRINSIC |
coiled coil region
|
535 |
597 |
N/A |
INTRINSIC |
SCOP:d1eq1a_
|
605 |
769 |
3e-6 |
SMART |
ZnF_C2H2
|
791 |
815 |
1.16e1 |
SMART |
low complexity region
|
866 |
883 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214747
AA Change: H544R
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000217647
AA Change: H550R
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts12 |
A |
G |
15: 11,310,904 (GRCm39) |
T1054A |
probably benign |
Het |
Ankfn1 |
A |
C |
11: 89,413,859 (GRCm39) |
I172S |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,605,367 (GRCm39) |
T280A |
possibly damaging |
Het |
Arhgef37 |
T |
A |
18: 61,638,827 (GRCm39) |
E307D |
probably benign |
Het |
Bptf |
C |
T |
11: 107,001,709 (GRCm39) |
V468I |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,786,987 (GRCm39) |
V464A |
probably benign |
Het |
Cmc2 |
A |
T |
8: 117,616,446 (GRCm39) |
L93* |
probably null |
Het |
Ddx60 |
A |
G |
8: 62,407,569 (GRCm39) |
D360G |
probably benign |
Het |
Dock6 |
C |
T |
9: 21,744,135 (GRCm39) |
|
probably null |
Het |
Erp44 |
A |
G |
4: 48,218,136 (GRCm39) |
F178L |
possibly damaging |
Het |
Fam47e |
T |
C |
5: 92,722,541 (GRCm39) |
V79A |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,542,165 (GRCm39) |
S770P |
probably damaging |
Het |
Fcgr1 |
A |
G |
3: 96,191,897 (GRCm39) |
F304L |
probably benign |
Het |
Fkbp15 |
T |
C |
4: 62,230,538 (GRCm39) |
E725G |
probably damaging |
Het |
Fn1 |
T |
C |
1: 71,638,825 (GRCm39) |
I1971V |
probably benign |
Het |
Gdf6 |
A |
G |
4: 9,844,652 (GRCm39) |
S59G |
probably benign |
Het |
Gm5773 |
T |
A |
3: 93,680,373 (GRCm39) |
I15N |
possibly damaging |
Het |
Hesx1 |
T |
C |
14: 26,723,379 (GRCm39) |
S70P |
probably benign |
Het |
Htr5a |
T |
C |
5: 28,055,995 (GRCm39) |
S329P |
probably damaging |
Het |
Htt |
T |
C |
5: 34,987,225 (GRCm39) |
|
probably null |
Het |
Iba57 |
T |
A |
11: 59,052,288 (GRCm39) |
M118L |
unknown |
Het |
Ifi35 |
C |
T |
11: 101,348,307 (GRCm39) |
Q112* |
probably null |
Het |
Il12rb1 |
G |
T |
8: 71,265,233 (GRCm39) |
R183L |
possibly damaging |
Het |
Il12rb2 |
A |
T |
6: 67,328,311 (GRCm39) |
Y306* |
probably null |
Het |
Ints1 |
C |
G |
5: 139,742,282 (GRCm39) |
D1722H |
probably damaging |
Het |
Ipp |
T |
G |
4: 116,381,453 (GRCm39) |
D317E |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,142,481 (GRCm39) |
T912A |
probably benign |
Het |
Klhdc7a |
A |
G |
4: 139,693,045 (GRCm39) |
V634A |
probably damaging |
Het |
Klhl40 |
C |
A |
9: 121,607,748 (GRCm39) |
P303T |
probably damaging |
Het |
Krt13 |
T |
C |
11: 100,008,478 (GRCm39) |
T420A |
unknown |
Het |
Lpcat2 |
T |
C |
8: 93,582,186 (GRCm39) |
F35S |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,289,753 (GRCm39) |
V5470A |
probably damaging |
Het |
Mta2 |
T |
C |
19: 8,925,151 (GRCm39) |
|
probably null |
Het |
Muc16 |
G |
T |
9: 18,567,725 (GRCm39) |
T1598K |
unknown |
Het |
Nckap5 |
A |
T |
1: 125,954,547 (GRCm39) |
N668K |
probably damaging |
Het |
Nlrp4a |
A |
T |
7: 26,150,070 (GRCm39) |
D559V |
possibly damaging |
Het |
Npat |
T |
C |
9: 53,474,167 (GRCm39) |
L653P |
probably benign |
Het |
Oog1 |
G |
A |
12: 87,655,252 (GRCm39) |
V467I |
possibly damaging |
Het |
Or4c15b |
A |
G |
2: 89,113,082 (GRCm39) |
S132P |
probably benign |
Het |
Or4f56 |
C |
T |
2: 111,703,280 (GRCm39) |
A307T |
probably benign |
Het |
Pdzph1 |
T |
A |
17: 59,186,105 (GRCm39) |
M1229L |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,614,445 (GRCm39) |
Q106L |
|
Het |
Plekha5 |
C |
A |
6: 140,472,267 (GRCm39) |
R65S |
probably damaging |
Het |
Ptger4 |
T |
C |
15: 5,264,381 (GRCm39) |
Y425C |
probably damaging |
Het |
Pus7 |
A |
G |
5: 23,951,465 (GRCm39) |
M534T |
possibly damaging |
Het |
Rtkn2 |
C |
T |
10: 67,875,923 (GRCm39) |
P411S |
probably damaging |
Het |
Scand1 |
G |
A |
2: 156,154,232 (GRCm39) |
P13S |
unknown |
Het |
Senp5 |
T |
A |
16: 31,796,514 (GRCm39) |
K617I |
probably damaging |
Het |
Shq1 |
A |
G |
6: 100,613,972 (GRCm39) |
L282P |
probably damaging |
Het |
Slc12a6 |
T |
A |
2: 112,166,256 (GRCm39) |
C227S |
probably damaging |
Het |
Slc5a9 |
T |
A |
4: 111,747,729 (GRCm39) |
T284S |
probably benign |
Het |
Stat2 |
T |
A |
10: 128,120,831 (GRCm39) |
F579L |
probably damaging |
Het |
Tes |
G |
T |
6: 17,096,242 (GRCm39) |
A77S |
possibly damaging |
Het |
Themis |
A |
T |
10: 28,637,342 (GRCm39) |
T149S |
probably benign |
Het |
Tmprss6 |
C |
T |
15: 78,326,664 (GRCm39) |
R653H |
probably benign |
Het |
Trmt6 |
G |
A |
2: 132,652,959 (GRCm39) |
L107F |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,792,714 (GRCm39) |
C713R |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,667,454 (GRCm39) |
I820V |
probably benign |
Het |
Usp45 |
G |
A |
4: 21,824,543 (GRCm39) |
A432T |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,668,622 (GRCm39) |
V82E |
possibly damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,777 (GRCm39) |
Y281F |
possibly damaging |
Het |
|
Other mutations in Scaper |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00653:Scaper
|
APN |
9 |
55,767,143 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL00912:Scaper
|
APN |
9 |
55,593,239 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Scaper
|
APN |
9 |
55,767,051 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01626:Scaper
|
APN |
9 |
55,819,335 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL01779:Scaper
|
APN |
9 |
55,799,524 (GRCm39) |
missense |
probably benign |
0.20 |
IGL02011:Scaper
|
APN |
9 |
55,487,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02997:Scaper
|
APN |
9 |
55,722,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03107:Scaper
|
APN |
9 |
55,765,686 (GRCm39) |
splice site |
probably benign |
|
IGL03167:Scaper
|
APN |
9 |
55,767,108 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03293:Scaper
|
APN |
9 |
55,782,107 (GRCm39) |
missense |
probably benign |
|
IGL03340:Scaper
|
APN |
9 |
55,510,116 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03368:Scaper
|
APN |
9 |
55,563,311 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0111:Scaper
|
UTSW |
9 |
55,510,074 (GRCm39) |
missense |
probably benign |
0.01 |
R0510:Scaper
|
UTSW |
9 |
55,665,346 (GRCm39) |
splice site |
probably benign |
|
R0531:Scaper
|
UTSW |
9 |
55,517,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
R0558:Scaper
|
UTSW |
9 |
55,593,207 (GRCm39) |
missense |
probably benign |
0.08 |
R0605:Scaper
|
UTSW |
9 |
55,722,802 (GRCm39) |
splice site |
probably benign |
|
R0646:Scaper
|
UTSW |
9 |
55,665,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Scaper
|
UTSW |
9 |
55,766,326 (GRCm39) |
nonsense |
probably null |
|
R1440:Scaper
|
UTSW |
9 |
55,510,202 (GRCm39) |
nonsense |
probably null |
|
R1548:Scaper
|
UTSW |
9 |
55,723,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R1777:Scaper
|
UTSW |
9 |
55,771,830 (GRCm39) |
missense |
probably benign |
0.33 |
R1822:Scaper
|
UTSW |
9 |
55,767,184 (GRCm39) |
missense |
probably damaging |
0.99 |
R1834:Scaper
|
UTSW |
9 |
55,724,018 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1870:Scaper
|
UTSW |
9 |
55,593,222 (GRCm39) |
missense |
probably damaging |
1.00 |
R2102:Scaper
|
UTSW |
9 |
55,819,334 (GRCm39) |
missense |
probably benign |
0.43 |
R2168:Scaper
|
UTSW |
9 |
55,650,923 (GRCm39) |
missense |
probably damaging |
1.00 |
R2174:Scaper
|
UTSW |
9 |
55,766,321 (GRCm39) |
missense |
probably null |
0.01 |
R3690:Scaper
|
UTSW |
9 |
55,791,205 (GRCm39) |
missense |
probably benign |
0.00 |
R4392:Scaper
|
UTSW |
9 |
55,765,399 (GRCm39) |
missense |
probably damaging |
0.99 |
R4418:Scaper
|
UTSW |
9 |
55,745,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4606:Scaper
|
UTSW |
9 |
55,563,187 (GRCm39) |
critical splice donor site |
probably null |
|
R4643:Scaper
|
UTSW |
9 |
55,745,463 (GRCm39) |
missense |
probably damaging |
0.99 |
R4665:Scaper
|
UTSW |
9 |
55,819,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Scaper
|
UTSW |
9 |
55,650,932 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Scaper
|
UTSW |
9 |
55,799,519 (GRCm39) |
missense |
probably benign |
0.02 |
R4934:Scaper
|
UTSW |
9 |
55,716,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R4956:Scaper
|
UTSW |
9 |
55,745,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R5055:Scaper
|
UTSW |
9 |
55,767,003 (GRCm39) |
splice site |
probably null |
|
R5107:Scaper
|
UTSW |
9 |
55,487,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Scaper
|
UTSW |
9 |
55,463,370 (GRCm39) |
missense |
probably null |
1.00 |
R5265:Scaper
|
UTSW |
9 |
55,771,830 (GRCm39) |
missense |
probably benign |
|
R5408:Scaper
|
UTSW |
9 |
55,493,508 (GRCm39) |
missense |
probably damaging |
0.99 |
R5623:Scaper
|
UTSW |
9 |
55,771,791 (GRCm39) |
missense |
probably benign |
0.02 |
R5665:Scaper
|
UTSW |
9 |
55,714,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R5748:Scaper
|
UTSW |
9 |
55,766,360 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5771:Scaper
|
UTSW |
9 |
55,724,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R6534:Scaper
|
UTSW |
9 |
55,791,260 (GRCm39) |
missense |
probably benign |
0.00 |
R6557:Scaper
|
UTSW |
9 |
55,458,134 (GRCm39) |
missense |
probably benign |
0.02 |
R6651:Scaper
|
UTSW |
9 |
55,765,788 (GRCm39) |
missense |
probably benign |
0.05 |
R6796:Scaper
|
UTSW |
9 |
55,771,711 (GRCm39) |
missense |
probably benign |
0.00 |
R6962:Scaper
|
UTSW |
9 |
55,767,055 (GRCm39) |
missense |
probably benign |
0.01 |
R7145:Scaper
|
UTSW |
9 |
55,819,395 (GRCm39) |
missense |
unknown |
|
R7199:Scaper
|
UTSW |
9 |
55,745,460 (GRCm39) |
nonsense |
probably null |
|
R7356:Scaper
|
UTSW |
9 |
55,799,495 (GRCm39) |
missense |
unknown |
|
R7426:Scaper
|
UTSW |
9 |
55,669,561 (GRCm39) |
nonsense |
probably null |
|
R7503:Scaper
|
UTSW |
9 |
55,715,038 (GRCm39) |
missense |
probably damaging |
0.98 |
R7844:Scaper
|
UTSW |
9 |
55,722,732 (GRCm39) |
missense |
probably benign |
0.04 |
R7966:Scaper
|
UTSW |
9 |
55,669,611 (GRCm39) |
missense |
probably damaging |
0.98 |
R8081:Scaper
|
UTSW |
9 |
55,823,330 (GRCm39) |
missense |
unknown |
|
R8189:Scaper
|
UTSW |
9 |
55,819,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R8294:Scaper
|
UTSW |
9 |
55,517,280 (GRCm39) |
missense |
possibly damaging |
0.62 |
R8351:Scaper
|
UTSW |
9 |
55,724,088 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8451:Scaper
|
UTSW |
9 |
55,724,088 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8473:Scaper
|
UTSW |
9 |
55,458,131 (GRCm39) |
missense |
probably damaging |
1.00 |
R8476:Scaper
|
UTSW |
9 |
55,669,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R8504:Scaper
|
UTSW |
9 |
55,771,722 (GRCm39) |
missense |
probably benign |
|
R9058:Scaper
|
UTSW |
9 |
55,722,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R9071:Scaper
|
UTSW |
9 |
55,771,803 (GRCm39) |
missense |
probably benign |
|
R9099:Scaper
|
UTSW |
9 |
55,669,616 (GRCm39) |
missense |
probably damaging |
0.98 |
R9104:Scaper
|
UTSW |
9 |
55,819,400 (GRCm39) |
missense |
unknown |
|
R9516:Scaper
|
UTSW |
9 |
55,593,275 (GRCm39) |
missense |
probably benign |
0.05 |
R9685:Scaper
|
UTSW |
9 |
55,771,835 (GRCm39) |
missense |
probably benign |
0.10 |
X0012:Scaper
|
UTSW |
9 |
55,563,214 (GRCm39) |
missense |
probably damaging |
0.98 |
X0052:Scaper
|
UTSW |
9 |
55,723,948 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Scaper
|
UTSW |
9 |
55,463,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGCCTGAAACACTGTCAAAAC -3'
(R):5'- GGCATCTTCTGTCAGGACATTCC -3'
Sequencing Primer
(F):5'- ACAGTGTTGTTTTCTACATGT -3'
(R):5'- ATCTTCTGTCAGGACATTCCATATC -3'
|
Posted On |
2020-09-15 |