Incidental Mutation 'R5169:Shoc1'
ID |
397427 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
042749-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R5169 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 59059618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1014
(Y1014F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: Y1014F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: Y1014F
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,841,552 (GRCm39) |
Y964* |
probably null |
Het |
Acsbg2 |
T |
C |
17: 57,156,913 (GRCm39) |
K375R |
probably benign |
Het |
Ago4 |
C |
A |
4: 126,405,520 (GRCm39) |
R415L |
probably benign |
Het |
Alpk1 |
A |
T |
3: 127,464,750 (GRCm39) |
I1176N |
probably damaging |
Het |
Arhgap25 |
A |
T |
6: 87,440,252 (GRCm39) |
I465N |
possibly damaging |
Het |
Arhgef10 |
A |
G |
8: 14,980,051 (GRCm39) |
D97G |
possibly damaging |
Het |
Cdc37 |
T |
A |
9: 21,052,413 (GRCm39) |
M299L |
probably benign |
Het |
Ddx54 |
C |
A |
5: 120,761,328 (GRCm39) |
H453Q |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,102,994 (GRCm39) |
Y1102H |
probably damaging |
Het |
Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,415,074 (GRCm39) |
F1939L |
probably damaging |
Het |
Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
Ints7 |
T |
C |
1: 191,345,202 (GRCm39) |
F631L |
probably benign |
Het |
Itih1 |
A |
T |
14: 30,655,403 (GRCm39) |
Y597* |
probably null |
Het |
Kctd1 |
T |
C |
18: 15,195,822 (GRCm39) |
E267G |
possibly damaging |
Het |
Lrrc8e |
A |
G |
8: 4,284,329 (GRCm39) |
T185A |
probably benign |
Het |
Maco1 |
T |
C |
4: 134,555,774 (GRCm39) |
H233R |
probably benign |
Het |
Masp2 |
T |
C |
4: 148,690,571 (GRCm39) |
I276T |
probably damaging |
Het |
Med17 |
A |
T |
9: 15,188,900 (GRCm39) |
F122I |
probably benign |
Het |
Milr1 |
C |
T |
11: 106,645,754 (GRCm39) |
R99* |
probably null |
Het |
Mpp4 |
T |
C |
1: 59,169,256 (GRCm39) |
|
probably null |
Het |
Ms4a4d |
C |
T |
19: 11,535,340 (GRCm39) |
P213S |
possibly damaging |
Het |
Mtcl1 |
T |
C |
17: 66,650,818 (GRCm39) |
N1100S |
probably benign |
Het |
Myom3 |
T |
C |
4: 135,502,889 (GRCm39) |
I322T |
probably benign |
Het |
Nav2 |
C |
T |
7: 49,198,231 (GRCm39) |
Q1287* |
probably null |
Het |
Nr3c2 |
A |
T |
8: 77,635,666 (GRCm39) |
N256Y |
probably damaging |
Het |
Nrde2 |
A |
G |
12: 100,095,552 (GRCm39) |
|
probably null |
Het |
Otog |
G |
T |
7: 45,947,572 (GRCm39) |
A2242S |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh18 |
T |
C |
3: 49,710,415 (GRCm39) |
D300G |
possibly damaging |
Het |
Pcdh8 |
G |
A |
14: 80,005,095 (GRCm39) |
P880S |
probably benign |
Het |
Pcid2 |
A |
G |
8: 13,129,632 (GRCm39) |
|
probably null |
Het |
Phkb |
A |
G |
8: 86,623,120 (GRCm39) |
H148R |
probably benign |
Het |
Pik3r4 |
T |
C |
9: 105,555,360 (GRCm39) |
S1106P |
probably benign |
Het |
Pnpla7 |
A |
T |
2: 24,940,321 (GRCm39) |
M1067L |
probably benign |
Het |
Pp2d1 |
C |
A |
17: 53,814,930 (GRCm39) |
G598V |
possibly damaging |
Het |
Ppm1d |
C |
T |
11: 85,223,196 (GRCm39) |
A267V |
probably damaging |
Het |
Psg29 |
C |
T |
7: 16,945,578 (GRCm39) |
P383S |
probably damaging |
Het |
Rc3h2 |
A |
T |
2: 37,295,324 (GRCm39) |
F231I |
probably damaging |
Het |
Rpl14 |
T |
A |
9: 120,401,254 (GRCm39) |
D32E |
possibly damaging |
Het |
Rpl32 |
G |
T |
6: 115,783,949 (GRCm39) |
N92K |
probably benign |
Het |
Rragc |
A |
G |
4: 123,829,457 (GRCm39) |
N391S |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,501,005 (GRCm39) |
E3563K |
possibly damaging |
Het |
Sh3rf2 |
A |
G |
18: 42,286,126 (GRCm39) |
M508V |
probably benign |
Het |
Slc24a3 |
G |
A |
2: 145,482,184 (GRCm39) |
C614Y |
probably benign |
Het |
Spata31d1b |
T |
C |
13: 59,864,309 (GRCm39) |
S486P |
probably damaging |
Het |
Spi1 |
A |
T |
2: 90,945,428 (GRCm39) |
K170* |
probably null |
Het |
Srgn |
C |
A |
10: 62,330,866 (GRCm39) |
D80Y |
probably damaging |
Het |
St6galnac6 |
A |
G |
2: 32,504,857 (GRCm39) |
K87R |
possibly damaging |
Het |
Sytl3 |
A |
T |
17: 6,982,945 (GRCm39) |
K134* |
probably null |
Het |
Szt2 |
T |
C |
4: 118,247,027 (GRCm39) |
T863A |
probably benign |
Het |
Tcea3 |
A |
T |
4: 135,992,181 (GRCm39) |
|
probably null |
Het |
Tg |
T |
A |
15: 66,550,629 (GRCm39) |
L253* |
probably null |
Het |
Timm8a2 |
T |
A |
14: 122,272,138 (GRCm39) |
S14T |
probably benign |
Het |
Tppp3 |
G |
C |
8: 106,194,501 (GRCm39) |
N166K |
probably benign |
Het |
Trav2 |
G |
A |
14: 52,804,759 (GRCm39) |
V4M |
probably benign |
Het |
Trmt5 |
T |
C |
12: 73,329,495 (GRCm39) |
D221G |
probably damaging |
Het |
Ttc27 |
T |
A |
17: 75,054,690 (GRCm39) |
L332* |
probably null |
Het |
V1rd19 |
A |
G |
7: 23,703,209 (GRCm39) |
N225S |
possibly damaging |
Het |
Wdr20rt |
A |
T |
12: 65,274,184 (GRCm39) |
Q448L |
probably damaging |
Het |
Zc3h7b |
A |
T |
15: 81,657,515 (GRCm39) |
N185I |
probably benign |
Het |
Zmpste24 |
A |
T |
4: 120,925,914 (GRCm39) |
I351N |
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 |
|
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 |
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'- TGATCTGAACAGAACGCCCAAG -3'
(R):5'- AAGGCTCCCTGTTGATGCTG -3'
Sequencing Primer
(F):5'- GCCCAAGACAGCGTGTG -3'
(R):5'- GGAAACCATACCTATGCCTCTTAAG -3'
|
Posted On |
2016-07-06 |