Incidental Mutation 'R5419:Shoc1'
ID |
427908 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
042987-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5419 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 59049017 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1116
(M1116K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: M1116K
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: M1116K
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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429L15Rik |
C |
T |
9: 46,220,624 (GRCm39) |
|
probably null |
Het |
Abca13 |
T |
A |
11: 9,143,533 (GRCm39) |
|
probably null |
Het |
Akap13 |
A |
T |
7: 75,259,991 (GRCm39) |
T69S |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,572,966 (GRCm39) |
C80S |
probably damaging |
Het |
Bltp2 |
T |
A |
11: 78,162,916 (GRCm39) |
L926* |
probably null |
Het |
Brsk1 |
A |
G |
7: 4,712,003 (GRCm39) |
T618A |
possibly damaging |
Het |
Cep295 |
T |
C |
9: 15,235,533 (GRCm39) |
H1982R |
probably damaging |
Het |
Ces5a |
A |
T |
8: 94,226,059 (GRCm39) |
S559T |
unknown |
Het |
Clcf1 |
A |
G |
19: 4,272,213 (GRCm39) |
N90S |
possibly damaging |
Het |
Clec16a |
G |
A |
16: 10,549,543 (GRCm39) |
C872Y |
probably damaging |
Het |
Cobll1 |
A |
T |
2: 64,933,701 (GRCm39) |
D430E |
possibly damaging |
Het |
Cyp1a2 |
T |
A |
9: 57,589,794 (GRCm39) |
I7F |
probably benign |
Het |
Cyp2b23 |
G |
A |
7: 26,380,848 (GRCm39) |
R126* |
probably null |
Het |
Daam2 |
A |
G |
17: 49,787,782 (GRCm39) |
W444R |
possibly damaging |
Het |
Dcbld2 |
T |
A |
16: 58,275,621 (GRCm39) |
C446S |
probably damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Eif2d |
T |
C |
1: 131,086,035 (GRCm39) |
*177R |
probably null |
Het |
Fkbp15 |
G |
A |
4: 62,246,114 (GRCm39) |
A438V |
probably damaging |
Het |
Gjb5 |
G |
A |
4: 127,249,652 (GRCm39) |
A164V |
probably benign |
Het |
Grin1 |
A |
T |
2: 25,188,285 (GRCm39) |
|
probably null |
Het |
Grm3 |
A |
G |
5: 9,620,233 (GRCm39) |
F337S |
probably damaging |
Het |
Hey2 |
T |
A |
10: 30,710,019 (GRCm39) |
T245S |
probably benign |
Het |
Ifi206 |
T |
C |
1: 173,308,797 (GRCm39) |
T400A |
probably benign |
Het |
Itga7 |
G |
A |
10: 128,779,902 (GRCm39) |
E480K |
probably null |
Het |
Itpr1 |
T |
C |
6: 108,470,755 (GRCm39) |
Y2227H |
possibly damaging |
Het |
Krt8 |
T |
C |
15: 101,912,337 (GRCm39) |
D113G |
probably damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Lins1 |
A |
G |
7: 66,357,843 (GRCm39) |
|
probably benign |
Het |
Lmf1 |
A |
T |
17: 25,881,610 (GRCm39) |
D553V |
possibly damaging |
Het |
Lnpep |
A |
G |
17: 17,786,992 (GRCm39) |
S536P |
probably damaging |
Het |
Lrp1b |
A |
T |
2: 40,620,716 (GRCm39) |
C3587* |
probably null |
Het |
Macf1 |
A |
T |
4: 123,290,917 (GRCm39) |
D3435E |
possibly damaging |
Het |
Mmp1b |
T |
C |
9: 7,384,897 (GRCm39) |
I251V |
possibly damaging |
Het |
Myg1 |
A |
T |
15: 102,245,397 (GRCm39) |
N206I |
probably damaging |
Het |
Myl12a |
T |
G |
17: 71,301,694 (GRCm39) |
R144S |
probably benign |
Het |
Myo5a |
T |
A |
9: 75,055,179 (GRCm39) |
I454K |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,965,051 (GRCm39) |
D1545G |
probably benign |
Het |
Ogdhl |
T |
G |
14: 32,061,181 (GRCm39) |
D457E |
probably damaging |
Het |
Or5ac20 |
T |
A |
16: 59,104,704 (GRCm39) |
D52V |
probably damaging |
Het |
Or9s18 |
A |
C |
13: 65,300,588 (GRCm39) |
L183F |
probably damaging |
Het |
Paf1 |
A |
G |
7: 28,095,095 (GRCm39) |
I112V |
possibly damaging |
Het |
Pate7 |
T |
A |
9: 35,689,407 (GRCm39) |
|
probably null |
Het |
Pcdhga4 |
C |
T |
18: 37,819,798 (GRCm39) |
P449L |
probably damaging |
Het |
Pla2g6 |
A |
T |
15: 79,183,342 (GRCm39) |
I495N |
possibly damaging |
Het |
Ptgs1 |
A |
G |
2: 36,127,234 (GRCm39) |
Y40C |
probably damaging |
Het |
Ptprn2 |
A |
T |
12: 117,148,267 (GRCm39) |
I676F |
probably damaging |
Het |
Rev3l |
T |
C |
10: 39,700,927 (GRCm39) |
L1808P |
possibly damaging |
Het |
Sall2 |
A |
G |
14: 52,550,586 (GRCm39) |
S868P |
probably damaging |
Het |
Slc47a2 |
A |
G |
11: 61,198,412 (GRCm39) |
F428L |
probably benign |
Het |
Slco1a7 |
C |
T |
6: 141,681,826 (GRCm39) |
|
probably null |
Het |
Slco3a1 |
A |
T |
7: 73,934,363 (GRCm39) |
F603Y |
possibly damaging |
Het |
Smyd2 |
A |
T |
1: 189,642,090 (GRCm39) |
C65* |
probably null |
Het |
Ssu72 |
T |
C |
4: 155,800,007 (GRCm39) |
F57L |
probably damaging |
Het |
Tanc2 |
A |
G |
11: 105,813,709 (GRCm39) |
T1718A |
probably benign |
Het |
Tnks |
G |
C |
8: 35,432,720 (GRCm39) |
P34A |
unknown |
Het |
Top3a |
G |
A |
11: 60,653,348 (GRCm39) |
T42I |
probably damaging |
Het |
Trank1 |
T |
C |
9: 111,220,369 (GRCm39) |
S2369P |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubqln1 |
T |
C |
13: 58,330,997 (GRCm39) |
Q410R |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,207,224 (GRCm39) |
I32T |
possibly damaging |
Het |
Xcr1 |
A |
G |
9: 123,685,375 (GRCm39) |
F129S |
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 |
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 |
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'- GGCAGAGACCATCCTTCAGAAG -3'
(R):5'- TGAAGCAAACAGATACGAATACCTG -3'
Sequencing Primer
(F):5'- GACCATCCTTCAGAAGTGCATGTG -3'
(R):5'- GATACGAATACCTGAATCCCTTACTG -3'
|
Posted On |
2016-09-01 |