Incidental Mutation 'R1599:Shoc1'
ID |
176009 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
039636-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R1599 (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 59072349 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 622
(N622K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: N622K
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: N622K
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: 99.0%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
A |
G |
12: 71,197,033 (GRCm39) |
E202G |
probably damaging |
Het |
Adam23 |
A |
G |
1: 63,610,092 (GRCm39) |
D698G |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,215,377 (GRCm39) |
D20G |
possibly damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,797 (GRCm39) |
S114P |
probably damaging |
Het |
Adgrg6 |
T |
A |
10: 14,343,057 (GRCm39) |
R297* |
probably null |
Het |
Ahdc1 |
A |
T |
4: 132,792,247 (GRCm39) |
S1163C |
possibly damaging |
Het |
Axl |
A |
G |
7: 25,463,394 (GRCm39) |
Y619H |
probably damaging |
Het |
Bcl11a |
G |
T |
11: 24,113,887 (GRCm39) |
C410F |
probably damaging |
Het |
Brca2 |
C |
A |
5: 150,472,178 (GRCm39) |
S2359* |
probably null |
Het |
Calca |
A |
G |
7: 114,233,707 (GRCm39) |
S75P |
probably damaging |
Het |
Ccn2 |
A |
T |
10: 24,473,297 (GRCm39) |
R279W |
probably benign |
Het |
Ccpg1 |
T |
A |
9: 72,906,407 (GRCm39) |
Y54* |
probably null |
Het |
Cfap161 |
A |
T |
7: 83,425,287 (GRCm39) |
M268K |
possibly damaging |
Het |
Cfap61 |
T |
A |
2: 145,854,083 (GRCm39) |
V365E |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,548,709 (GRCm39) |
I1000V |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,122,799 (GRCm39) |
D978E |
probably benign |
Het |
Cyth1 |
G |
A |
11: 118,068,047 (GRCm39) |
T297M |
probably damaging |
Het |
Dennd1b |
T |
G |
1: 139,095,468 (GRCm39) |
D505E |
probably benign |
Het |
Dgkd |
A |
G |
1: 87,809,608 (GRCm39) |
T99A |
possibly damaging |
Het |
Fam161a |
A |
T |
11: 22,971,093 (GRCm39) |
M180L |
probably benign |
Het |
Gar1 |
G |
T |
3: 129,624,253 (GRCm39) |
R80S |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,866,944 (GRCm39) |
S419P |
probably benign |
Het |
Gm5591 |
A |
C |
7: 38,219,794 (GRCm39) |
C360G |
probably benign |
Het |
Golga2 |
A |
G |
2: 32,193,185 (GRCm39) |
H427R |
probably benign |
Het |
Gpt2 |
A |
G |
8: 86,238,863 (GRCm39) |
Y232C |
probably damaging |
Het |
Hnrnpll |
T |
A |
17: 80,361,054 (GRCm39) |
H118L |
unknown |
Het |
Ice2 |
T |
A |
9: 69,318,724 (GRCm39) |
C303S |
probably null |
Het |
Ikzf3 |
C |
A |
11: 98,357,919 (GRCm39) |
G473C |
probably damaging |
Het |
Kansl3 |
A |
T |
1: 36,406,951 (GRCm39) |
D38E |
probably damaging |
Het |
Kcna6 |
A |
T |
6: 126,716,282 (GRCm39) |
D202E |
probably benign |
Het |
Klhl21 |
G |
A |
4: 152,096,757 (GRCm39) |
G341D |
probably damaging |
Het |
Klhl29 |
A |
T |
12: 5,143,538 (GRCm39) |
V497D |
probably damaging |
Het |
Kmt2b |
G |
A |
7: 30,270,000 (GRCm39) |
L2449F |
probably damaging |
Het |
Kmt5c |
A |
G |
7: 4,744,899 (GRCm39) |
E10G |
probably damaging |
Het |
Lama3 |
C |
T |
18: 12,583,457 (GRCm39) |
Q682* |
probably null |
Het |
Lamb3 |
T |
C |
1: 193,002,801 (GRCm39) |
V82A |
probably damaging |
Het |
Larp4b |
C |
T |
13: 9,172,186 (GRCm39) |
T2I |
probably damaging |
Het |
Man2a1 |
T |
C |
17: 64,986,826 (GRCm39) |
Y613H |
possibly damaging |
Het |
Mcm3 |
G |
A |
1: 20,890,422 (GRCm39) |
T4I |
probably benign |
Het |
Mki67 |
C |
T |
7: 135,301,663 (GRCm39) |
A1124T |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,143 (GRCm39) |
L348I |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,922,021 (GRCm39) |
M159I |
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,352,640 (GRCm39) |
Q709L |
possibly damaging |
Het |
Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
Nosip |
A |
G |
7: 44,723,430 (GRCm39) |
N32S |
probably benign |
Het |
Npat |
T |
C |
9: 53,473,704 (GRCm39) |
Y499H |
possibly damaging |
Het |
Nt5c1b |
T |
A |
12: 10,440,024 (GRCm39) |
I522N |
probably damaging |
Het |
Or1j18 |
G |
T |
2: 36,625,001 (GRCm39) |
V223F |
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,448,176 (GRCm39) |
K312M |
probably damaging |
Het |
Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
Or7g32 |
T |
A |
9: 19,389,517 (GRCm39) |
T7S |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,742 (GRCm39) |
F799S |
probably damaging |
Het |
Pate5 |
T |
C |
9: 35,750,333 (GRCm39) |
N113S |
probably benign |
Het |
Pcdha1 |
C |
T |
18: 37,318,290 (GRCm39) |
T941M |
probably damaging |
Het |
Pilrb2 |
A |
T |
5: 137,866,859 (GRCm39) |
F215I |
possibly damaging |
Het |
Pkd1l3 |
G |
T |
8: 110,363,016 (GRCm39) |
M1092I |
probably benign |
Het |
Ppp1r21 |
G |
T |
17: 88,880,055 (GRCm39) |
V491L |
probably benign |
Het |
Prickle2 |
T |
C |
6: 92,387,855 (GRCm39) |
T516A |
probably benign |
Het |
Prr27 |
G |
T |
5: 87,991,084 (GRCm39) |
R232L |
probably benign |
Het |
Rab3gap2 |
C |
T |
1: 184,983,223 (GRCm39) |
T454I |
probably benign |
Het |
Rgs11 |
C |
A |
17: 26,427,223 (GRCm39) |
H385N |
probably damaging |
Het |
S1pr5 |
T |
A |
9: 21,155,230 (GRCm39) |
T399S |
probably benign |
Het |
Sacs |
G |
A |
14: 61,441,087 (GRCm39) |
M1044I |
probably benign |
Het |
Sec31b |
T |
A |
19: 44,511,592 (GRCm39) |
Q603L |
possibly damaging |
Het |
Setx |
G |
A |
2: 29,030,385 (GRCm39) |
E275K |
probably benign |
Het |
Sh3tc1 |
G |
A |
5: 35,864,856 (GRCm39) |
P444S |
probably benign |
Het |
Strn3 |
T |
A |
12: 51,699,549 (GRCm39) |
N208Y |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,224,868 (GRCm39) |
N131S |
probably damaging |
Het |
Tmprss13 |
T |
A |
9: 45,249,616 (GRCm39) |
W318R |
probably damaging |
Het |
Trabd2b |
T |
C |
4: 114,266,178 (GRCm39) |
V64A |
probably damaging |
Het |
Trafd1 |
A |
T |
5: 121,517,720 (GRCm39) |
N24K |
probably damaging |
Het |
Ttc41 |
T |
C |
10: 86,612,437 (GRCm39) |
S1237P |
probably benign |
Het |
Ttll1 |
A |
G |
15: 83,381,555 (GRCm39) |
V238A |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,565,537 (GRCm39) |
S492P |
probably benign |
Het |
Zic1 |
T |
C |
9: 91,243,741 (GRCm39) |
I409V |
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 |
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 |
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'- CAGGGCTGTGGGTCTGGAAATAAC -3'
(R):5'- AGGTCATACTCTGCCTGTGAGGAAC -3'
Sequencing Primer
(F):5'- tgggaggcagaggcaag -3'
(R):5'- TTCTCAGCACAGCGTTAGG -3'
|
Posted On |
2014-04-24 |