Incidental Mutation 'R6209:Shoc1'
ID |
503317 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
044343-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6209 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
makesense |
DNA Base Change (assembly) |
A to G
at 59043869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Stop codon to Arginine
at position 1482
(*1482R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041160]
[ENSMUST00000107547]
[ENSMUST00000174664]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041160
|
SMART Domains |
Protein: ENSMUSP00000042705 Gene: ENSMUSG00000038607
Domain | Start | End | E-Value | Type |
G_gamma
|
3 |
68 |
2.62e-20 |
SMART |
GGL
|
7 |
68 |
2.67e-25 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000107547
AA Change: *1482R
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: *1482R
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: ENSMUST00000126507
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174664
|
SMART Domains |
Protein: ENSMUSP00000134530 Gene: ENSMUSG00000092345
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
37 |
N/A |
INTRINSIC |
DnaJ
|
47 |
113 |
3.9e-16 |
SMART |
G_gamma
|
94 |
150 |
1.06e-6 |
SMART |
GGL
|
94 |
150 |
1.05e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
T |
A |
1: 38,232,670 (GRCm39) |
M990L |
probably benign |
Het |
Agl |
A |
T |
3: 116,578,845 (GRCm39) |
Y429* |
probably null |
Het |
Ahnak |
A |
T |
19: 8,989,930 (GRCm39) |
K3738M |
probably damaging |
Het |
Amn |
G |
T |
12: 111,241,845 (GRCm39) |
V304L |
probably damaging |
Het |
Ap3s1 |
G |
A |
18: 46,912,318 (GRCm39) |
V113I |
probably benign |
Het |
Arhgef28 |
A |
T |
13: 98,065,917 (GRCm39) |
|
probably null |
Het |
Atad2 |
A |
G |
15: 57,981,811 (GRCm39) |
S18P |
probably damaging |
Het |
Bhmt1b |
C |
T |
18: 87,775,341 (GRCm39) |
A288V |
probably damaging |
Het |
C4b |
T |
A |
17: 34,960,061 (GRCm39) |
E305V |
possibly damaging |
Het |
Caskin1 |
T |
C |
17: 24,726,095 (GRCm39) |
S1401P |
possibly damaging |
Het |
Cblc |
A |
T |
7: 19,519,230 (GRCm39) |
V366D |
possibly damaging |
Het |
Cdk17 |
A |
T |
10: 93,044,093 (GRCm39) |
T11S |
probably benign |
Het |
Cenpc1 |
A |
G |
5: 86,181,509 (GRCm39) |
S619P |
probably benign |
Het |
Clec4d |
T |
G |
6: 123,247,488 (GRCm39) |
|
probably null |
Het |
Disp2 |
T |
C |
2: 118,617,402 (GRCm39) |
L132P |
probably damaging |
Het |
Dync2h1 |
T |
C |
9: 7,165,677 (GRCm39) |
K528R |
probably benign |
Het |
Fbxw26 |
A |
G |
9: 109,547,033 (GRCm39) |
I464T |
possibly damaging |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gabbr2 |
A |
G |
4: 46,804,069 (GRCm39) |
V262A |
probably damaging |
Het |
Galnt17 |
T |
A |
5: 131,110,434 (GRCm39) |
M302L |
probably benign |
Het |
Gpn3 |
T |
C |
5: 122,520,175 (GRCm39) |
I243T |
probably benign |
Het |
Gpr160 |
T |
C |
3: 30,950,141 (GRCm39) |
V71A |
possibly damaging |
Het |
Gramd1b |
G |
T |
9: 40,244,946 (GRCm39) |
A154D |
probably damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H60b |
C |
A |
10: 22,163,043 (GRCm39) |
T206N |
probably benign |
Het |
Hydin |
A |
T |
8: 111,320,434 (GRCm39) |
I4493F |
probably benign |
Het |
Il19 |
C |
T |
1: 130,866,852 (GRCm39) |
E43K |
possibly damaging |
Het |
Ints2 |
A |
G |
11: 86,115,884 (GRCm39) |
Y782H |
probably damaging |
Het |
Itprid1 |
T |
A |
6: 55,851,306 (GRCm39) |
I62N |
probably damaging |
Het |
Jph1 |
C |
A |
1: 17,167,810 (GRCm39) |
D7Y |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,726,852 (GRCm39) |
I62V |
probably damaging |
Het |
Map7 |
G |
A |
10: 20,152,026 (GRCm39) |
|
probably null |
Het |
Matk |
T |
G |
10: 81,095,422 (GRCm39) |
W81G |
probably damaging |
Het |
Matn4 |
T |
C |
2: 164,242,735 (GRCm39) |
Y121C |
probably damaging |
Het |
Mical2 |
G |
A |
7: 111,923,293 (GRCm39) |
|
probably null |
Het |
Miga2 |
T |
G |
2: 30,271,674 (GRCm39) |
Y399D |
probably damaging |
Het |
Mocos |
A |
T |
18: 24,799,672 (GRCm39) |
E302V |
probably benign |
Het |
Mrpl11 |
C |
T |
19: 5,014,743 (GRCm39) |
A172V |
probably damaging |
Het |
Mrpl48 |
A |
C |
7: 100,209,001 (GRCm39) |
Y108D |
probably damaging |
Het |
Mtr |
A |
G |
13: 12,205,278 (GRCm39) |
S1061P |
probably benign |
Het |
Myh11 |
T |
A |
16: 14,026,155 (GRCm39) |
K1309* |
probably null |
Het |
Myom2 |
G |
A |
8: 15,154,173 (GRCm39) |
V704I |
possibly damaging |
Het |
Nars2 |
A |
G |
7: 96,706,728 (GRCm39) |
H413R |
probably benign |
Het |
Nckap1 |
A |
G |
2: 80,355,946 (GRCm39) |
L619P |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,362,817 (GRCm39) |
N983S |
probably damaging |
Het |
Nup210 |
A |
G |
6: 91,002,337 (GRCm39) |
V717A |
probably benign |
Het |
P4ha3 |
G |
T |
7: 99,966,292 (GRCm39) |
G479V |
probably benign |
Het |
Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
Phf11a |
A |
G |
14: 59,525,028 (GRCm39) |
S59P |
probably damaging |
Het |
Phyhip |
G |
A |
14: 70,700,798 (GRCm39) |
S95N |
probably benign |
Het |
Ppat |
A |
G |
5: 77,065,993 (GRCm39) |
V375A |
probably benign |
Het |
Prkdc |
A |
G |
16: 15,608,456 (GRCm39) |
E3086G |
probably damaging |
Het |
Psg22 |
A |
G |
7: 18,453,599 (GRCm39) |
E98G |
probably damaging |
Het |
Rabgap1 |
A |
T |
2: 37,453,610 (GRCm39) |
K1013* |
probably null |
Het |
Retreg3 |
C |
T |
11: 101,010,526 (GRCm39) |
G27D |
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 |
Sema6a |
A |
T |
18: 47,431,369 (GRCm39) |
|
probably null |
Het |
Septin10 |
T |
C |
10: 59,006,670 (GRCm39) |
E349G |
probably damaging |
Het |
Serpina1c |
A |
G |
12: 103,863,429 (GRCm39) |
V257A |
probably damaging |
Het |
Sgpp2 |
T |
A |
1: 78,367,119 (GRCm39) |
M84K |
probably damaging |
Het |
Skint11 |
A |
G |
4: 114,101,907 (GRCm39) |
S116G |
possibly damaging |
Het |
Slc2a5 |
G |
A |
4: 150,227,557 (GRCm39) |
V459I |
probably benign |
Het |
Smarca2 |
T |
G |
19: 26,748,404 (GRCm39) |
Y126* |
probably null |
Het |
Stab2 |
T |
G |
10: 86,758,867 (GRCm39) |
N1024H |
possibly damaging |
Het |
Sting1 |
A |
T |
18: 35,869,155 (GRCm39) |
I178N |
probably damaging |
Het |
Svep1 |
A |
C |
4: 58,128,869 (GRCm39) |
F609L |
probably benign |
Het |
Tbc1d2 |
G |
A |
4: 46,614,068 (GRCm39) |
T671I |
probably damaging |
Het |
Thoc5 |
T |
C |
11: 4,855,697 (GRCm39) |
I82T |
probably damaging |
Het |
Tmem213 |
G |
T |
6: 38,092,517 (GRCm39) |
C83F |
probably damaging |
Het |
Topaz1 |
G |
A |
9: 122,579,570 (GRCm39) |
D827N |
possibly damaging |
Het |
Trappc10 |
C |
A |
10: 78,050,646 (GRCm39) |
G265V |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,539,808 (GRCm39) |
S26066P |
probably damaging |
Het |
Zfp292 |
G |
T |
4: 34,809,442 (GRCm39) |
Q1201K |
probably benign |
Het |
Zfp354a |
T |
A |
11: 50,951,815 (GRCm39) |
|
probably null |
Het |
Zfp418 |
T |
C |
7: 7,185,096 (GRCm39) |
V353A |
possibly damaging |
Het |
Zfp444 |
G |
A |
7: 6,192,948 (GRCm39) |
|
probably benign |
Het |
Zfp503 |
C |
A |
14: 22,035,778 (GRCm39) |
Q379H |
probably damaging |
Het |
Zfp804a |
A |
G |
2: 82,088,462 (GRCm39) |
K764E |
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 |
|
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'- GACAAATGCCCTGCGAAGTAC -3'
(R):5'- GAAAGGTGCGTTGTTCATGTTAAAC -3'
Sequencing Primer
(F):5'- ATGCCCTGCGAAGTACACAGG -3'
(R):5'- GACTTAATGTACTCACAAGTACC -3'
|
Posted On |
2018-02-27 |