Incidental Mutation 'R6230:Shoc1'
ID |
504609 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
044359-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6230 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 59099345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 116
(N116D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: N116D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: N116D
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: ENSMUST00000122832
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.1%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adnp |
T |
C |
2: 168,024,452 (GRCm39) |
T948A |
probably benign |
Het |
Arhgef12 |
T |
C |
9: 42,900,261 (GRCm39) |
I871V |
probably benign |
Het |
Atf1 |
T |
C |
15: 100,130,705 (GRCm39) |
V25A |
possibly damaging |
Het |
Atp23 |
G |
A |
10: 126,723,431 (GRCm39) |
H224Y |
probably benign |
Het |
Ccpg1 |
A |
G |
9: 72,919,638 (GRCm39) |
T418A |
probably benign |
Het |
Col27a1 |
T |
C |
4: 63,142,519 (GRCm39) |
I69T |
probably damaging |
Het |
Cspp1 |
T |
C |
1: 10,147,422 (GRCm39) |
S328P |
probably benign |
Het |
Cttnbp2nl |
C |
T |
3: 104,918,655 (GRCm39) |
E62K |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,525,246 (GRCm39) |
F183S |
probably damaging |
Het |
Dync2li1 |
T |
C |
17: 84,955,078 (GRCm39) |
S246P |
probably damaging |
Het |
Ext2 |
A |
G |
2: 93,592,965 (GRCm39) |
I413T |
probably damaging |
Het |
Fam174a |
T |
C |
1: 95,241,951 (GRCm39) |
V137A |
probably damaging |
Het |
Flg |
T |
A |
3: 93,186,782 (GRCm39) |
V78E |
probably damaging |
Het |
Fn3krp |
C |
A |
11: 121,316,418 (GRCm39) |
H111N |
probably damaging |
Het |
Focad |
T |
C |
4: 88,260,441 (GRCm39) |
I899T |
unknown |
Het |
Foxq1 |
T |
C |
13: 31,743,491 (GRCm39) |
Y198H |
probably damaging |
Het |
Gm21060 |
A |
T |
19: 61,285,449 (GRCm39) |
M20K |
probably benign |
Het |
Kif16b |
A |
T |
2: 142,691,832 (GRCm39) |
N217K |
probably damaging |
Het |
Klkb1 |
A |
G |
8: 45,736,252 (GRCm39) |
Y162H |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,927,072 (GRCm39) |
|
probably null |
Het |
Madd |
C |
T |
2: 90,973,866 (GRCm39) |
|
probably null |
Het |
Mast2 |
T |
A |
4: 116,183,295 (GRCm39) |
H258L |
probably damaging |
Het |
Musk |
T |
C |
4: 58,367,576 (GRCm39) |
V598A |
probably damaging |
Het |
Nexn |
T |
A |
3: 151,943,912 (GRCm39) |
Q539L |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,758,262 (GRCm39) |
K130E |
possibly damaging |
Het |
Nlrp14 |
A |
T |
7: 106,781,024 (GRCm39) |
I74F |
probably benign |
Het |
Omg |
T |
C |
11: 79,393,784 (GRCm39) |
I25V |
probably benign |
Het |
Or56b35 |
A |
G |
7: 104,963,289 (GRCm39) |
H26R |
possibly damaging |
Het |
Or8b54 |
T |
G |
9: 38,687,073 (GRCm39) |
I174S |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,844,990 (GRCm39) |
D627G |
probably damaging |
Het |
Pdia6 |
A |
G |
12: 17,327,214 (GRCm39) |
E126G |
probably benign |
Het |
Ppp1r2 |
T |
A |
16: 31,079,418 (GRCm39) |
D127V |
possibly damaging |
Het |
Pramel17 |
T |
A |
4: 101,694,411 (GRCm39) |
E157D |
probably damaging |
Het |
Rgs22 |
A |
G |
15: 36,100,176 (GRCm39) |
S304P |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
Ryr2 |
T |
C |
13: 11,674,993 (GRCm39) |
Y3378C |
probably damaging |
Het |
Slitrk5 |
GACTAC |
GACTACTAC |
14: 111,917,248 (GRCm39) |
|
probably benign |
Het |
Smurf2 |
T |
C |
11: 106,759,330 (GRCm39) |
|
probably null |
Het |
Tanc1 |
T |
C |
2: 59,672,375 (GRCm39) |
F1348L |
probably damaging |
Het |
Tars3 |
A |
T |
7: 65,336,184 (GRCm39) |
|
probably null |
Het |
Tmem213 |
A |
T |
6: 38,091,551 (GRCm39) |
S52C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,749,778 (GRCm39) |
D3757G |
probably benign |
Het |
Usp16 |
C |
T |
16: 87,261,686 (GRCm39) |
P101S |
possibly damaging |
Het |
Usp19 |
G |
A |
9: 108,379,140 (GRCm39) |
M1318I |
probably damaging |
Het |
Vmn1r75 |
G |
A |
7: 11,614,966 (GRCm39) |
A233T |
probably damaging |
Het |
Vsir |
A |
T |
10: 60,193,857 (GRCm39) |
N107Y |
probably damaging |
Het |
Zfp160 |
T |
C |
17: 21,246,707 (GRCm39) |
V419A |
probably benign |
Het |
Zfp808 |
A |
T |
13: 62,320,136 (GRCm39) |
H455L |
probably benign |
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 |
|
R5770:Shoc1
|
UTSW |
4 |
59,092,466 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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'- AGGATCAAATCTGTACAGGTTACC -3'
(R):5'- AGTGTCCACTGGAATTTGGC -3'
Sequencing Primer
(F):5'- CTGTACAGGTTACCTTGAGTTTAAGC -3'
(R):5'- GTCCACTGGAATTTGGCAAAATTTCC -3'
|
Posted On |
2018-02-28 |