Incidental Mutation 'R7484:Shoc1'
ID |
579983 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
045558-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7484 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59062286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 924
(V924E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107547
AA Change: V924E
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: V924E
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 |
0.2219 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
98% (65/66) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
A |
G |
4: 144,504,521 (GRCm39) |
L210P |
probably damaging |
Het |
Acacb |
G |
A |
5: 114,356,923 (GRCm39) |
V1285I |
probably damaging |
Het |
Acly |
A |
T |
11: 100,386,789 (GRCm39) |
I591N |
probably damaging |
Het |
Acr |
T |
A |
15: 89,457,427 (GRCm39) |
V225E |
probably damaging |
Het |
Actr8 |
A |
G |
14: 29,714,925 (GRCm39) |
D580G |
probably damaging |
Het |
Adamts12 |
C |
A |
15: 11,345,734 (GRCm39) |
Q1592K |
probably benign |
Het |
Aire |
T |
C |
10: 77,878,404 (GRCm39) |
E138G |
probably damaging |
Het |
Apob |
C |
T |
12: 8,056,884 (GRCm39) |
Q1789* |
probably null |
Het |
Cbx5 |
A |
C |
15: 103,114,256 (GRCm39) |
|
probably null |
Het |
Cd300lb |
A |
T |
11: 114,819,345 (GRCm39) |
W95R |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,827,605 (GRCm39) |
T504A |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,389,018 (GRCm39) |
S1605P |
probably damaging |
Het |
Ckap2l |
A |
G |
2: 129,114,455 (GRCm39) |
V596A |
possibly damaging |
Het |
Cntn1 |
T |
C |
15: 92,151,922 (GRCm39) |
W454R |
probably benign |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Csf2rb |
A |
G |
15: 78,223,099 (GRCm39) |
T104A |
possibly damaging |
Het |
Cyp4a12b |
A |
G |
4: 115,289,760 (GRCm39) |
D209G |
possibly damaging |
Het |
Ddx23 |
T |
C |
15: 98,546,570 (GRCm39) |
E533G |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,660,744 (GRCm39) |
|
probably null |
Het |
Eif3l |
T |
G |
15: 78,968,336 (GRCm39) |
C202G |
probably benign |
Het |
Ephx4 |
T |
G |
5: 107,577,612 (GRCm39) |
M312R |
probably damaging |
Het |
Erich6 |
A |
T |
3: 58,534,112 (GRCm39) |
|
probably null |
Het |
Far2 |
G |
A |
6: 148,075,411 (GRCm39) |
D424N |
probably damaging |
Het |
Fat1 |
C |
A |
8: 45,489,221 (GRCm39) |
N3497K |
probably damaging |
Het |
Fstl3 |
G |
A |
10: 79,615,865 (GRCm39) |
C117Y |
probably damaging |
Het |
Fyb2 |
A |
T |
4: 104,870,499 (GRCm39) |
H700L |
probably benign |
Het |
Gm8356 |
T |
A |
14: 17,691,282 (GRCm39) |
M128L |
probably benign |
Het |
Golim4 |
G |
T |
3: 75,805,442 (GRCm39) |
|
probably null |
Het |
Grm1 |
T |
G |
10: 10,622,403 (GRCm39) |
D440A |
probably benign |
Het |
Gtf2a1 |
A |
G |
12: 91,529,747 (GRCm39) |
V322A |
probably benign |
Het |
Hid1 |
T |
C |
11: 115,243,407 (GRCm39) |
|
probably null |
Het |
Igfals |
G |
A |
17: 25,098,962 (GRCm39) |
V18M |
possibly damaging |
Het |
Klk1b24 |
G |
T |
7: 43,839,688 (GRCm39) |
|
probably null |
Het |
Lmbr1 |
T |
C |
5: 29,551,850 (GRCm39) |
|
probably benign |
Het |
Lrrc40 |
T |
C |
3: 157,746,194 (GRCm39) |
S90P |
probably benign |
Het |
Mapk9 |
T |
C |
11: 49,763,663 (GRCm39) |
Y185H |
probably damaging |
Het |
Marveld2 |
C |
T |
13: 100,748,068 (GRCm39) |
G337D |
probably damaging |
Het |
Mga |
G |
T |
2: 119,776,710 (GRCm39) |
R1539L |
probably damaging |
Het |
Mllt6 |
T |
A |
11: 97,563,442 (GRCm39) |
S342T |
probably benign |
Het |
Ms4a6c |
T |
C |
19: 11,449,893 (GRCm39) |
|
probably null |
Het |
Muc16 |
T |
A |
9: 18,558,064 (GRCm39) |
H2743L |
unknown |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Or10ag60 |
T |
C |
2: 87,438,281 (GRCm39) |
F183S |
probably damaging |
Het |
Or2l13 |
A |
G |
16: 19,305,753 (GRCm39) |
H55R |
possibly damaging |
Het |
Plcd3 |
T |
G |
11: 102,962,545 (GRCm39) |
K635N |
probably damaging |
Het |
Prkch |
T |
A |
12: 73,632,301 (GRCm39) |
|
probably null |
Het |
Rb1cc1 |
T |
C |
1: 6,344,441 (GRCm39) |
V1570A |
probably damaging |
Het |
Rp1 |
T |
C |
1: 4,415,704 (GRCm39) |
N1803D |
probably benign |
Het |
Rufy3 |
T |
A |
5: 88,746,331 (GRCm39) |
V72E |
probably benign |
Het |
Secisbp2l |
G |
A |
2: 125,613,452 (GRCm39) |
Q181* |
probably null |
Het |
Sgcb |
A |
G |
5: 73,797,188 (GRCm39) |
F191L |
possibly damaging |
Het |
Sgsh |
T |
A |
11: 119,237,183 (GRCm39) |
D477V |
probably damaging |
Het |
Slc22a28 |
C |
A |
19: 8,048,492 (GRCm39) |
S385I |
probably benign |
Het |
Slc26a3 |
T |
C |
12: 31,497,787 (GRCm39) |
V47A |
probably benign |
Het |
Slco2a1 |
A |
T |
9: 102,945,185 (GRCm39) |
I187F |
probably damaging |
Het |
Sltm |
T |
C |
9: 70,481,179 (GRCm39) |
S344P |
unknown |
Het |
Sort1 |
A |
G |
3: 108,246,141 (GRCm39) |
T373A |
probably damaging |
Het |
Stab1 |
A |
G |
14: 30,882,274 (GRCm39) |
F474L |
probably benign |
Het |
Tbc1d5 |
G |
T |
17: 51,224,573 (GRCm39) |
A326E |
possibly damaging |
Het |
Tcstv4 |
A |
T |
13: 120,770,017 (GRCm39) |
K112N |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdr70 |
G |
A |
15: 7,951,562 (GRCm39) |
T425I |
probably benign |
Het |
Zfp30 |
T |
C |
7: 29,492,231 (GRCm39) |
Y243H |
probably benign |
Het |
Zfp974 |
A |
T |
7: 27,611,559 (GRCm39) |
N55K |
possibly damaging |
Het |
Zftraf1 |
A |
G |
15: 76,530,435 (GRCm39) |
L295P |
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 |
R7355:Shoc1
|
UTSW |
4 |
59,076,155 (GRCm39) |
missense |
probably benign |
|
R7423:Shoc1
|
UTSW |
4 |
59,076,264 (GRCm39) |
missense |
probably benign |
0.27 |
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'- AAAGGTGTTCAATAGAGTTTCGGG -3'
(R):5'- GCTCTGCAGAGTAAGGAGAC -3'
Sequencing Primer
(F):5'- TGATATACTCTTTGGAAAGCAGTTC -3'
(R):5'- TCCACTAGAGCAGGACTGTC -3'
|
Posted On |
2019-10-07 |