Incidental Mutation 'R7503:Scaper'
| ID |
581627 |
| 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 |
045576-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.629)
|
| Stock # |
R7503 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55457163-55845403 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55715038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 750
(D750G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037408]
[ENSMUST00000214747]
[ENSMUST00000216595]
[ENSMUST00000217647]
|
| AlphaFold |
F8VQ70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037408
AA Change: D750G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
AA Change: D750G
| 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 damaging
Transcript: ENSMUST00000214747
AA Change: D744G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216595
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217647
AA Change: D750G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2419 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
G |
A |
8: 12,329,554 (GRCm39) |
G3D |
unknown |
Het |
| Aif1 |
A |
T |
17: 35,390,549 (GRCm39) |
I67N |
probably damaging |
Het |
| Akap11 |
T |
C |
14: 78,749,441 (GRCm39) |
D982G |
|
Het |
| Anpep |
A |
G |
7: 79,476,385 (GRCm39) |
L827P |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,933 (GRCm39) |
K561N |
probably benign |
Het |
| Arsj |
T |
C |
3: 126,158,493 (GRCm39) |
F24S |
probably benign |
Het |
| Bard1 |
T |
C |
1: 71,069,995 (GRCm39) |
D661G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,783,056 (GRCm39) |
I618V |
unknown |
Het |
| Cfap251 |
G |
T |
5: 123,435,521 (GRCm39) |
E994* |
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,723,298 (GRCm39) |
|
probably null |
Het |
| Cfhr2 |
T |
A |
1: 139,758,952 (GRCm39) |
I33F |
probably damaging |
Het |
| Dsc1 |
G |
A |
18: 20,218,922 (GRCm39) |
H827Y |
probably damaging |
Het |
| Eif3i |
C |
T |
4: 129,494,207 (GRCm39) |
D31N |
probably damaging |
Het |
| Eno1b |
A |
T |
18: 48,179,878 (GRCm39) |
T19S |
probably damaging |
Het |
| Eva1a |
G |
A |
6: 82,048,210 (GRCm39) |
W29* |
probably null |
Het |
| Evc |
T |
C |
5: 37,458,111 (GRCm39) |
K803R |
unknown |
Het |
| F5 |
T |
A |
1: 164,019,779 (GRCm39) |
N751K |
probably damaging |
Het |
| Fam120a |
A |
T |
13: 49,102,723 (GRCm39) |
N177K |
probably benign |
Het |
| Farp2 |
T |
G |
1: 93,495,219 (GRCm39) |
I164R |
probably benign |
Het |
| Gm20379 |
C |
T |
13: 92,442,565 (GRCm39) |
P26L |
|
Het |
| Hmgcs2 |
T |
C |
3: 98,209,940 (GRCm39) |
S433P |
probably damaging |
Het |
| Inava |
T |
C |
1: 136,143,675 (GRCm39) |
D587G |
possibly damaging |
Het |
| Ints2 |
T |
C |
11: 86,122,881 (GRCm39) |
T633A |
probably benign |
Het |
| Invs |
C |
T |
4: 48,396,347 (GRCm39) |
T340M |
probably damaging |
Het |
| Mef2c |
A |
C |
13: 83,810,623 (GRCm39) |
D391A |
possibly damaging |
Het |
| Msh4 |
A |
C |
3: 153,573,387 (GRCm39) |
S756A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,080,218 (GRCm39) |
T490A |
probably benign |
Het |
| Myo1b |
A |
T |
1: 51,815,761 (GRCm39) |
|
probably null |
Het |
| Nsmce1 |
A |
G |
7: 125,071,106 (GRCm39) |
S107P |
probably benign |
Het |
| Or52a24 |
T |
A |
7: 103,381,474 (GRCm39) |
S114T |
probably damaging |
Het |
| Or5d43 |
T |
C |
2: 88,105,039 (GRCm39) |
Y118C |
probably damaging |
Het |
| Pcdhb21 |
G |
A |
18: 37,648,028 (GRCm39) |
D386N |
probably benign |
Het |
| Pcdhb22 |
T |
G |
18: 37,652,155 (GRCm39) |
L208V |
probably benign |
Het |
| Pigu |
C |
T |
2: 155,173,064 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,936,474 (GRCm39) |
E585V |
probably damaging |
Het |
| Pnpla7 |
C |
A |
2: 24,873,544 (GRCm39) |
C183* |
probably null |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,949 (GRCm39) |
V133A |
possibly damaging |
Het |
| Prl3d3 |
A |
G |
13: 27,345,096 (GRCm39) |
Y156C |
probably benign |
Het |
| Prpf39 |
A |
G |
12: 65,100,167 (GRCm39) |
D280G |
probably benign |
Het |
| Recql5 |
C |
A |
11: 115,785,881 (GRCm39) |
A631S |
probably benign |
Het |
| Runx3 |
C |
A |
4: 134,882,679 (GRCm39) |
N138K |
probably damaging |
Het |
| Slc16a3 |
T |
C |
11: 120,847,853 (GRCm39) |
L347P |
probably damaging |
Het |
| Slc25a1 |
G |
T |
16: 17,744,303 (GRCm39) |
Y209* |
probably null |
Het |
| Smad2 |
A |
G |
18: 76,419,956 (GRCm39) |
S88G |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,141,490 (GRCm39) |
C1125R |
probably benign |
Het |
| Spata21 |
T |
A |
4: 140,822,614 (GRCm39) |
I140N |
probably benign |
Het |
| Speer3 |
A |
T |
5: 13,843,348 (GRCm39) |
D85V |
probably benign |
Het |
| Spopfm1 |
A |
T |
3: 94,173,780 (GRCm39) |
M259L |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,058,528 (GRCm39) |
N463S |
possibly damaging |
Het |
| Tmem14a |
T |
G |
1: 21,299,623 (GRCm39) |
|
probably null |
Het |
| Tsc1 |
T |
A |
2: 28,577,088 (GRCm39) |
L1130Q |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,611,401 (GRCm39) |
D17377G |
possibly damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,046 (GRCm39) |
D87G |
probably damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,447,372 (GRCm39) |
Q565* |
probably null |
Het |
| Vmn2r63 |
A |
T |
7: 42,583,014 (GRCm39) |
M67K |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,933,510 (GRCm39) |
Y357H |
not run |
Het |
| Vmn2r97 |
A |
G |
17: 19,148,470 (GRCm39) |
T122A |
probably benign |
Het |
| Wdhd1 |
T |
C |
14: 47,488,248 (GRCm39) |
E753G |
probably benign |
Het |
| Wdr11 |
A |
G |
7: 129,204,834 (GRCm39) |
N213S |
probably benign |
Het |
| Xdh |
A |
C |
17: 74,233,205 (GRCm39) |
D207E |
probably damaging |
Het |
| Zfp281 |
T |
A |
1: 136,554,678 (GRCm39) |
I552N |
possibly damaging |
Het |
| Zzef1 |
T |
A |
11: 72,716,893 (GRCm39) |
I361K |
probably 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 |
|
|
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 |
|
R7992:Scaper
|
UTSW |
9 |
55,765,438 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- CTTAGCACAAGATTTAAAAGGCTGG -3'
(R):5'- AGAAGCAATAGTGTCCATGTGTG -3'
Sequencing Primer
(F):5'- AGCAATAAATGATATCAGCAGACTG -3'
(R):5'- AGCAATAGTGTCCATGTGTGATATG -3'
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| Posted On |
2019-10-17 |
Incidental Mutation