Incidental Mutation 'R7355:Shoc1'
ID |
570865 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
045441-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7355 (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 59076155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 596
(D596G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: D596G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: D596G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,486,621 (GRCm39) |
R1469W |
probably benign |
Het |
Acad10 |
G |
T |
5: 121,768,780 (GRCm39) |
Y728* |
probably null |
Het |
Adamts17 |
T |
C |
7: 66,725,052 (GRCm39) |
V160A |
|
Het |
Astn1 |
A |
T |
1: 158,491,846 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,282,453 (GRCm39) |
K104E |
possibly damaging |
Het |
Axl |
T |
C |
7: 25,473,531 (GRCm39) |
Y365C |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,423,173 (GRCm39) |
Y409F |
probably benign |
Het |
Caln1 |
A |
T |
5: 130,443,732 (GRCm39) |
T22S |
probably benign |
Het |
Camk1 |
C |
A |
6: 113,315,307 (GRCm39) |
G164C |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,861,655 (GRCm39) |
T512A |
possibly damaging |
Het |
Ceacam5 |
A |
G |
7: 17,481,312 (GRCm39) |
D353G |
probably damaging |
Het |
Cep162 |
C |
A |
9: 87,136,008 (GRCm39) |
E12* |
probably null |
Het |
Cfh |
A |
T |
1: 140,064,553 (GRCm39) |
V365E |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,752,196 (GRCm39) |
H231R |
unknown |
Het |
Cntnap3 |
T |
C |
13: 64,919,776 (GRCm39) |
T694A |
probably benign |
Het |
Colq |
C |
A |
14: 31,267,066 (GRCm39) |
G158V |
probably damaging |
Het |
Ctif |
G |
A |
18: 75,743,756 (GRCm39) |
H139Y |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,042,144 (GRCm39) |
F934Y |
probably damaging |
Het |
Dclre1a |
T |
A |
19: 56,535,567 (GRCm39) |
T6S |
possibly damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,180 (GRCm39) |
D529G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,147,377 (GRCm39) |
Q3955L |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,860 (GRCm39) |
S73P |
probably damaging |
Het |
Gm19410 |
C |
A |
8: 36,274,226 (GRCm39) |
Q1460K |
probably benign |
Het |
Golga5 |
A |
T |
12: 102,438,494 (GRCm39) |
I70F |
possibly damaging |
Het |
Gon4l |
T |
A |
3: 88,770,827 (GRCm39) |
I502N |
probably damaging |
Het |
Gtf2ird2 |
C |
G |
5: 134,245,491 (GRCm39) |
A583G |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,838,081 (GRCm39) |
W694G |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,061 (GRCm39) |
G185D |
probably damaging |
Het |
Igfbp6 |
G |
A |
15: 102,056,375 (GRCm39) |
A145T |
probably benign |
Het |
Junb |
C |
T |
8: 85,705,013 (GRCm39) |
A16T |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,643,269 (GRCm39) |
V333I |
possibly damaging |
Het |
Ly6c1 |
T |
C |
15: 74,919,256 (GRCm39) |
T45A |
possibly damaging |
Het |
Mon2 |
T |
A |
10: 122,845,421 (GRCm39) |
Q1428L |
probably benign |
Het |
Nfatc2ip |
C |
T |
7: 125,986,783 (GRCm39) |
|
probably null |
Het |
Olfml3 |
C |
A |
3: 103,643,395 (GRCm39) |
G329W |
probably damaging |
Het |
Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
Or10al2 |
A |
G |
17: 37,983,301 (GRCm39) |
Y129C |
probably benign |
Het |
Or6d15 |
T |
A |
6: 116,559,916 (GRCm39) |
|
probably benign |
Het |
Or9g3 |
C |
T |
2: 85,584,023 (GRCm39) |
P106L |
probably benign |
Het |
Pcsk7 |
A |
G |
9: 45,820,672 (GRCm39) |
M35V |
probably benign |
Het |
Phf14 |
A |
G |
6: 12,081,006 (GRCm39) |
N921S |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,011,982 (GRCm39) |
S396F |
possibly damaging |
Het |
Ppp4r4 |
A |
T |
12: 103,570,841 (GRCm39) |
K766* |
probably null |
Het |
Pprc1 |
T |
C |
19: 46,053,785 (GRCm39) |
V1105A |
unknown |
Het |
Prdm9 |
T |
G |
17: 15,765,497 (GRCm39) |
N428H |
probably benign |
Het |
Prkcg |
C |
T |
7: 3,372,025 (GRCm39) |
T497I |
possibly damaging |
Het |
Prkcz |
A |
G |
4: 155,441,953 (GRCm39) |
W60R |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 116,822,571 (GRCm39) |
F217L |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,763,906 (GRCm39) |
Y283* |
probably null |
Het |
Rest |
A |
G |
5: 77,415,875 (GRCm39) |
M30V |
probably benign |
Het |
Rfxank |
C |
T |
8: 70,587,957 (GRCm39) |
R150H |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
Sgk2 |
A |
G |
2: 162,854,987 (GRCm39) |
D366G |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,922,371 (GRCm39) |
L568Q |
probably benign |
Het |
Slain1 |
AT |
ATT |
14: 103,940,012 (GRCm39) |
|
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,375 (GRCm39) |
Y428* |
probably null |
Het |
Slc25a54 |
T |
C |
3: 109,010,085 (GRCm39) |
W195R |
probably damaging |
Het |
Slf1 |
A |
G |
13: 77,239,422 (GRCm39) |
I414T |
probably damaging |
Het |
Snx4 |
C |
T |
16: 33,087,236 (GRCm39) |
P127L |
probably damaging |
Het |
Spdl1 |
A |
T |
11: 34,714,191 (GRCm39) |
L166H |
not run |
Het |
Tapt1 |
C |
T |
5: 44,334,459 (GRCm39) |
V511I |
probably benign |
Het |
Tbata |
A |
G |
10: 61,010,099 (GRCm39) |
|
probably benign |
Het |
Tbx4 |
T |
A |
11: 85,802,835 (GRCm39) |
V264E |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,278,438 (GRCm39) |
Y1023* |
probably null |
Het |
Thop1 |
A |
G |
10: 80,911,465 (GRCm39) |
D117G |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,792,604 (GRCm39) |
L13P |
probably damaging |
Het |
Tut7 |
T |
C |
13: 59,969,616 (GRCm39) |
N93S |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,754 (GRCm39) |
V637E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,879,149 (GRCm39) |
Q926K |
unknown |
Het |
Yipf3 |
T |
A |
17: 46,561,566 (GRCm39) |
M168K |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,173,287 (GRCm39) |
C185* |
probably null |
Het |
Zfyve21 |
A |
T |
12: 111,791,485 (GRCm39) |
I157F |
possibly damaging |
Het |
Zfyve26 |
A |
T |
12: 79,286,828 (GRCm39) |
D2253E |
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 |
|
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 |
|
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 |
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'- ACAGTGCACATGTGTACACAC -3'
(R):5'- GGCTGTTCAAGTCAAGTGC -3'
Sequencing Primer
(F):5'- TTGGATAAATAAGAATTGGAGGGTG -3'
(R):5'- AAGTCAAGTGCCATCTGCTG -3'
|
Posted On |
2019-09-13 |