Incidental Mutation 'R4853:Shoc1'
ID |
373695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R4853 (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 C
at 59072345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 624
(K624E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: K624E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: K624E
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: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.8%
|
Validation Efficiency |
|
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 |
Ablim2 |
C |
T |
5: 35,959,766 (GRCm39) |
R73C |
possibly damaging |
Het |
Abr |
T |
C |
11: 76,355,087 (GRCm39) |
T244A |
probably damaging |
Het |
Adcy10 |
T |
A |
1: 165,375,782 (GRCm39) |
N803K |
probably benign |
Het |
Afm |
T |
C |
5: 90,699,326 (GRCm39) |
F590S |
probably damaging |
Het |
Agk |
T |
C |
6: 40,360,753 (GRCm39) |
|
probably null |
Het |
Agrn |
C |
T |
4: 156,270,007 (GRCm39) |
|
probably null |
Het |
Apon |
A |
G |
10: 128,090,951 (GRCm39) |
S210G |
probably benign |
Het |
Atad5 |
A |
G |
11: 79,986,098 (GRCm39) |
E395G |
probably damaging |
Het |
AU018091 |
A |
T |
7: 3,205,861 (GRCm39) |
L671H |
probably damaging |
Het |
Capn13 |
GCA |
G |
17: 73,658,501 (GRCm39) |
|
probably null |
Het |
Ccdc154 |
A |
T |
17: 25,389,941 (GRCm39) |
I524F |
probably damaging |
Het |
Clspn |
T |
A |
4: 126,460,348 (GRCm39) |
I525K |
probably damaging |
Het |
Cpne5 |
A |
T |
17: 29,380,172 (GRCm39) |
V448E |
probably benign |
Het |
Cps1 |
A |
G |
1: 67,195,361 (GRCm39) |
I261V |
possibly damaging |
Het |
Crybb2 |
T |
C |
5: 113,211,054 (GRCm39) |
E78G |
probably damaging |
Het |
Ctps1 |
G |
T |
4: 120,411,207 (GRCm39) |
L270I |
probably damaging |
Het |
Cyp19a1 |
T |
C |
9: 54,074,060 (GRCm39) |
D431G |
probably benign |
Het |
Cyp3a57 |
T |
G |
5: 145,302,489 (GRCm39) |
V95G |
probably damaging |
Het |
Ddx54 |
A |
G |
5: 120,761,694 (GRCm39) |
D490G |
probably benign |
Het |
Dnai2 |
A |
T |
11: 114,635,917 (GRCm39) |
I301F |
probably benign |
Het |
Dsg1b |
A |
G |
18: 20,541,793 (GRCm39) |
S767G |
probably benign |
Het |
Dsg1b |
A |
T |
18: 20,523,189 (GRCm39) |
|
probably null |
Het |
Ermap |
G |
A |
4: 119,044,451 (GRCm39) |
P115L |
probably damaging |
Het |
Esrra |
T |
G |
19: 6,897,440 (GRCm39) |
T106P |
probably damaging |
Het |
Exoc5 |
GTATT |
GT |
14: 49,289,826 (GRCm39) |
|
probably benign |
Het |
Flt1 |
C |
A |
5: 147,620,749 (GRCm39) |
A132S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Gnl3 |
T |
C |
14: 30,737,270 (GRCm39) |
K203E |
probably damaging |
Het |
H2ac13 |
A |
G |
13: 21,900,866 (GRCm39) |
E92G |
probably damaging |
Het |
Habp2 |
G |
A |
19: 56,299,623 (GRCm39) |
|
probably null |
Het |
Kcnh3 |
A |
C |
15: 99,139,970 (GRCm39) |
D952A |
possibly damaging |
Het |
Kif27 |
T |
C |
13: 58,459,072 (GRCm39) |
K920E |
probably benign |
Het |
Kmt2e |
C |
T |
5: 23,707,339 (GRCm39) |
P1634L |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,104,846 (GRCm39) |
M1312K |
possibly damaging |
Het |
Myh14 |
T |
A |
7: 44,257,872 (GRCm39) |
Q1921L |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,102,169 (GRCm39) |
V68A |
probably damaging |
Het |
Ncor2 |
A |
G |
5: 125,158,247 (GRCm39) |
F444L |
unknown |
Het |
Nedd9 |
A |
G |
13: 41,469,837 (GRCm39) |
Y439H |
probably benign |
Het |
Nsd1 |
T |
A |
13: 55,416,317 (GRCm39) |
H1454Q |
probably benign |
Het |
Or10v9 |
T |
A |
19: 11,832,645 (GRCm39) |
D224V |
probably benign |
Het |
Or51v8 |
G |
T |
7: 103,320,010 (GRCm39) |
T76K |
probably damaging |
Het |
Or5i1 |
T |
G |
2: 87,613,526 (GRCm39) |
F214C |
probably benign |
Het |
Or9m1b |
A |
G |
2: 87,836,448 (GRCm39) |
S216P |
probably damaging |
Het |
P4ha2 |
G |
A |
11: 54,010,996 (GRCm39) |
S337N |
probably benign |
Het |
Pck1 |
T |
A |
2: 172,996,507 (GRCm39) |
Y140* |
probably null |
Het |
Phldb2 |
T |
C |
16: 45,623,079 (GRCm39) |
M656V |
probably damaging |
Het |
Pif1 |
T |
C |
9: 65,500,858 (GRCm39) |
W559R |
probably damaging |
Het |
Pllp |
T |
C |
8: 95,406,022 (GRCm39) |
Y87C |
probably damaging |
Het |
Ppp1r3a |
T |
C |
6: 14,719,046 (GRCm39) |
N623D |
probably benign |
Het |
Prkcg |
C |
T |
7: 3,367,469 (GRCm39) |
R345C |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,433,325 (GRCm39) |
I147V |
probably benign |
Het |
Sdk1 |
T |
A |
5: 142,132,018 (GRCm39) |
L1649Q |
probably damaging |
Het |
Sema3b |
C |
T |
9: 107,479,266 (GRCm39) |
|
probably null |
Het |
Sh3rf3 |
G |
A |
10: 58,919,341 (GRCm39) |
R486H |
probably damaging |
Het |
Slain2 |
A |
G |
5: 73,105,941 (GRCm39) |
N192S |
probably benign |
Het |
Slc22a16 |
T |
A |
10: 40,450,047 (GRCm39) |
I161N |
probably damaging |
Het |
Strip1 |
T |
C |
3: 107,524,232 (GRCm39) |
K562E |
possibly damaging |
Het |
Sumf1 |
A |
G |
6: 108,162,456 (GRCm39) |
L21S |
probably benign |
Het |
Sytl3 |
T |
A |
17: 7,005,164 (GRCm39) |
S380T |
probably damaging |
Het |
Tgfb1i1 |
T |
A |
7: 127,847,840 (GRCm39) |
C74* |
probably null |
Het |
Tmprss15 |
T |
G |
16: 78,757,479 (GRCm39) |
I939L |
probably benign |
Het |
Tpsb2 |
GGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTG |
17: 25,585,536 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
T |
6: 13,215,639 (GRCm39) |
V139E |
probably damaging |
Het |
Wdr27 |
A |
G |
17: 15,137,475 (GRCm39) |
|
probably null |
Het |
Zkscan14 |
A |
G |
5: 145,132,001 (GRCm39) |
V510A |
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 |
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 |
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'- GGCTGTGGGTCTGGAAATAAC -3'
(R):5'- CGTTAGGTCCACTGATCTGG -3'
Sequencing Primer
(F):5'- GATCTCTGAGTTCAAGACCAGCCTG -3'
(R):5'- AGGTCCACTGATCTGGATAATTC -3'
|
Posted On |
2016-03-01 |