Incidental Mutation 'R5770:Shoc1'
ID |
446481 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
043370-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5770 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59092466 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 238
(I238M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: I238M
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: I238M
Domain | Start | End | E-Value | Type |
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
low complexity region
|
543 |
560 |
N/A |
INTRINSIC |
low complexity region
|
908 |
917 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1201 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120981
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122832
|
Meta Mutation Damage Score |
0.0822 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
93% (64/69) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030C10Rik |
T |
C |
12: 20,865,460 (GRCm39) |
|
noncoding transcript |
Het |
Abhd8 |
A |
G |
8: 71,909,972 (GRCm39) |
V392A |
probably benign |
Het |
Alpk3 |
A |
G |
7: 80,728,310 (GRCm39) |
E480G |
probably benign |
Het |
Ankfy1 |
C |
G |
11: 72,651,082 (GRCm39) |
H1011D |
probably damaging |
Het |
Aoc3 |
T |
G |
11: 101,222,578 (GRCm39) |
Y271* |
probably null |
Het |
Bcl9 |
T |
C |
3: 97,122,491 (GRCm39) |
I103V |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,552,769 (GRCm39) |
|
probably null |
Het |
Cyp2c23 |
T |
A |
19: 44,010,018 (GRCm39) |
D109V |
probably damaging |
Het |
Cyp2j13 |
A |
T |
4: 95,965,669 (GRCm39) |
W13R |
probably benign |
Het |
D630003M21Rik |
T |
C |
2: 158,037,500 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
T |
1: 178,084,061 (GRCm39) |
|
probably benign |
Het |
Dll3 |
T |
C |
7: 27,998,434 (GRCm39) |
E177G |
possibly damaging |
Het |
Ern2 |
C |
T |
7: 121,779,130 (GRCm39) |
G238D |
possibly damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gm6133 |
A |
G |
18: 78,393,464 (GRCm39) |
K153E |
probably benign |
Het |
Gpr68 |
A |
T |
12: 100,845,080 (GRCm39) |
Y155N |
probably benign |
Het |
Hcrtr2 |
T |
A |
9: 76,166,948 (GRCm39) |
I130F |
probably damaging |
Het |
Hk1 |
T |
C |
10: 62,122,228 (GRCm39) |
K489R |
probably benign |
Het |
Ints13 |
T |
C |
6: 146,456,571 (GRCm39) |
N425S |
probably damaging |
Het |
Itpkc |
T |
C |
7: 26,912,413 (GRCm39) |
D578G |
probably damaging |
Het |
Kcns3 |
A |
G |
12: 11,142,250 (GRCm39) |
S150P |
probably benign |
Het |
Khdrbs3 |
T |
A |
15: 68,921,312 (GRCm39) |
|
probably null |
Het |
Kif11 |
A |
G |
19: 37,379,313 (GRCm39) |
I335V |
probably benign |
Het |
Lrrn4 |
C |
G |
2: 132,714,076 (GRCm39) |
C290S |
probably damaging |
Het |
Macrod2 |
T |
C |
2: 141,074,102 (GRCm39) |
|
probably benign |
Het |
Mgam |
A |
G |
6: 40,646,738 (GRCm39) |
N688S |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,188,026 (GRCm39) |
E933K |
probably damaging |
Het |
Nat8f5 |
T |
C |
6: 85,794,657 (GRCm39) |
Y101C |
probably damaging |
Het |
Nhlrc1 |
A |
G |
13: 47,168,188 (GRCm39) |
V23A |
probably benign |
Het |
Nkx2-3 |
T |
A |
19: 43,602,972 (GRCm39) |
F193I |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,449,414 (GRCm39) |
V172E |
probably benign |
Het |
Nmrk1 |
G |
T |
19: 18,622,438 (GRCm39) |
R172S |
probably benign |
Het |
Nudcd3 |
T |
C |
11: 6,063,286 (GRCm39) |
D201G |
probably damaging |
Het |
Oprm1 |
G |
A |
10: 6,739,026 (GRCm39) |
G51D |
probably damaging |
Het |
Or10g9b |
C |
T |
9: 39,917,634 (GRCm39) |
V204I |
probably benign |
Het |
Or13a18 |
A |
G |
7: 140,190,856 (GRCm39) |
Y259C |
probably damaging |
Het |
Or2t44 |
G |
A |
11: 58,677,420 (GRCm39) |
R120H |
probably benign |
Het |
Or2y14 |
A |
G |
11: 49,405,419 (GRCm39) |
E318G |
unknown |
Het |
Or4c12b |
T |
A |
2: 89,646,893 (GRCm39) |
D68E |
probably damaging |
Het |
Or56a3 |
A |
T |
7: 104,740,102 (GRCm39) |
I248N |
probably damaging |
Het |
Or5ac23 |
A |
T |
16: 59,149,514 (GRCm39) |
Y119* |
probably null |
Het |
Pcdh15 |
T |
A |
10: 74,021,177 (GRCm39) |
Y130* |
probably null |
Het |
Pcdh9 |
G |
A |
14: 94,124,379 (GRCm39) |
T597I |
probably damaging |
Het |
Pcdhb19 |
A |
G |
18: 37,631,090 (GRCm39) |
N295S |
possibly damaging |
Het |
Pcnx3 |
T |
C |
19: 5,731,607 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
T |
17: 59,186,146 (GRCm39) |
I1215N |
probably damaging |
Het |
Phf21a |
C |
T |
2: 92,182,199 (GRCm39) |
T405I |
possibly damaging |
Het |
Pkd1l2 |
C |
A |
8: 117,781,757 (GRCm39) |
G763W |
probably damaging |
Het |
Prox2 |
A |
G |
12: 85,134,154 (GRCm39) |
F591L |
probably benign |
Het |
Robo3 |
T |
A |
9: 37,330,497 (GRCm39) |
H1033L |
possibly damaging |
Het |
Sdha |
A |
T |
13: 74,471,239 (GRCm39) |
C222* |
probably null |
Het |
Sec16a |
T |
C |
2: 26,304,402 (GRCm39) |
D2303G |
probably damaging |
Het |
Slc16a5 |
A |
G |
11: 115,363,604 (GRCm39) |
K422E |
possibly damaging |
Het |
Slc22a30 |
A |
T |
19: 8,363,891 (GRCm39) |
M232K |
probably damaging |
Het |
Slc35b3 |
A |
T |
13: 39,121,734 (GRCm39) |
F300I |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,459 (GRCm39) |
V34A |
probably damaging |
Het |
Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,256,885 (GRCm39) |
Q1597L |
possibly damaging |
Het |
Tgfb1i1 |
A |
T |
7: 127,847,719 (GRCm39) |
|
probably benign |
Het |
Ticam1 |
TCACACA |
TCACA |
17: 56,577,629 (GRCm39) |
|
probably null |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,807 (GRCm39) |
T234A |
probably benign |
Het |
Usp20 |
A |
G |
2: 30,907,520 (GRCm39) |
Y684C |
probably damaging |
Het |
Zc3h4 |
T |
A |
7: 16,163,536 (GRCm39) |
M585K |
unknown |
Het |
Zfp292 |
A |
G |
4: 34,806,747 (GRCm39) |
I2099T |
probably damaging |
Het |
|
Other mutations in Shoc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Shoc1
|
APN |
4 |
59,086,961 (GRCm39) |
missense |
probably benign |
|
IGL00574:Shoc1
|
APN |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL01333:Shoc1
|
APN |
4 |
59,047,870 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02282:Shoc1
|
APN |
4 |
59,111,114 (GRCm39) |
missense |
unknown |
|
IGL02418:Shoc1
|
APN |
4 |
59,049,075 (GRCm39) |
splice site |
probably benign |
|
IGL02621:Shoc1
|
APN |
4 |
59,062,668 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03028:Shoc1
|
APN |
4 |
59,094,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL03112:Shoc1
|
APN |
4 |
59,049,355 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03137:Shoc1
|
APN |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
IGL03220:Shoc1
|
APN |
4 |
59,082,378 (GRCm39) |
nonsense |
probably null |
|
IGL03386:Shoc1
|
APN |
4 |
59,069,315 (GRCm39) |
missense |
possibly damaging |
0.66 |
1mM(1):Shoc1
|
UTSW |
4 |
59,048,024 (GRCm39) |
nonsense |
probably null |
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0194:Shoc1
|
UTSW |
4 |
59,066,534 (GRCm39) |
splice site |
probably benign |
|
R0366:Shoc1
|
UTSW |
4 |
59,099,410 (GRCm39) |
missense |
probably benign |
0.09 |
R0680:Shoc1
|
UTSW |
4 |
59,043,967 (GRCm39) |
missense |
probably benign |
0.00 |
R1419:Shoc1
|
UTSW |
4 |
59,064,457 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1599:Shoc1
|
UTSW |
4 |
59,072,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1699:Shoc1
|
UTSW |
4 |
59,113,926 (GRCm39) |
missense |
unknown |
|
R1799:Shoc1
|
UTSW |
4 |
59,099,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1832:Shoc1
|
UTSW |
4 |
59,066,441 (GRCm39) |
missense |
probably benign |
0.05 |
R1870:Shoc1
|
UTSW |
4 |
59,054,142 (GRCm39) |
splice site |
probably benign |
|
R2076:Shoc1
|
UTSW |
4 |
59,082,410 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2170:Shoc1
|
UTSW |
4 |
59,069,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R2873:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
R3026:Shoc1
|
UTSW |
4 |
59,062,656 (GRCm39) |
missense |
possibly damaging |
0.83 |
R3079:Shoc1
|
UTSW |
4 |
59,047,848 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3853:Shoc1
|
UTSW |
4 |
59,047,390 (GRCm39) |
missense |
possibly damaging |
0.66 |
R3914:Shoc1
|
UTSW |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4006:Shoc1
|
UTSW |
4 |
59,076,500 (GRCm39) |
missense |
possibly damaging |
0.53 |
R4364:Shoc1
|
UTSW |
4 |
59,082,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4387:Shoc1
|
UTSW |
4 |
59,060,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4454:Shoc1
|
UTSW |
4 |
59,092,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4811:Shoc1
|
UTSW |
4 |
59,082,404 (GRCm39) |
missense |
probably benign |
0.19 |
R4853:Shoc1
|
UTSW |
4 |
59,072,345 (GRCm39) |
missense |
possibly damaging |
0.66 |
R4899:Shoc1
|
UTSW |
4 |
59,062,640 (GRCm39) |
missense |
probably damaging |
0.97 |
R5090:Shoc1
|
UTSW |
4 |
59,111,108 (GRCm39) |
missense |
unknown |
|
R5169:Shoc1
|
UTSW |
4 |
59,059,618 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5297:Shoc1
|
UTSW |
4 |
59,047,543 (GRCm39) |
missense |
probably benign |
|
R5400:Shoc1
|
UTSW |
4 |
59,082,432 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5419:Shoc1
|
UTSW |
4 |
59,049,017 (GRCm39) |
missense |
probably benign |
0.04 |
R5668:Shoc1
|
UTSW |
4 |
59,047,399 (GRCm39) |
missense |
probably benign |
|
R5783:Shoc1
|
UTSW |
4 |
59,076,239 (GRCm39) |
nonsense |
probably null |
|
R5929:Shoc1
|
UTSW |
4 |
59,092,497 (GRCm39) |
nonsense |
probably null |
|
R6209:Shoc1
|
UTSW |
4 |
59,043,869 (GRCm39) |
makesense |
probably null |
|
R6230:Shoc1
|
UTSW |
4 |
59,099,345 (GRCm39) |
missense |
probably benign |
|
R6233:Shoc1
|
UTSW |
4 |
59,076,245 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6351:Shoc1
|
UTSW |
4 |
59,069,317 (GRCm39) |
missense |
probably benign |
0.00 |
R6785:Shoc1
|
UTSW |
4 |
59,049,066 (GRCm39) |
missense |
probably benign |
0.01 |
R6884:Shoc1
|
UTSW |
4 |
59,059,652 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7355:Shoc1
|
UTSW |
4 |
59,076,155 (GRCm39) |
missense |
probably benign |
|
R7423:Shoc1
|
UTSW |
4 |
59,076,264 (GRCm39) |
missense |
probably benign |
0.27 |
R7484:Shoc1
|
UTSW |
4 |
59,062,286 (GRCm39) |
missense |
probably damaging |
0.97 |
R7560:Shoc1
|
UTSW |
4 |
59,076,140 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7999:Shoc1
|
UTSW |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
R8198:Shoc1
|
UTSW |
4 |
59,065,174 (GRCm39) |
missense |
probably benign |
0.10 |
R8979:Shoc1
|
UTSW |
4 |
59,047,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCAATAACAAGGTTTGTGTTTTG -3'
(R):5'- AGATTACTTGAGAAAGGCATTGC -3'
Sequencing Primer
(F):5'- TAGACTAGGCTGGACTTGAACTCAC -3'
(R):5'- GTGCCATTTAAACAAACATCC -3'
|
Posted On |
2016-11-21 |