Incidental Mutation 'R7999:Shoc1'
ID |
616244 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
046039-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R7999 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 59094162 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 187
(F187L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: F187L
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: F187L
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahi1 |
A |
G |
10: 20,841,580 (GRCm39) |
E289G |
probably benign |
Het |
Armc2 |
C |
T |
10: 41,887,954 (GRCm39) |
E10K |
possibly damaging |
Het |
Aspscr1 |
T |
C |
11: 120,569,348 (GRCm39) |
|
probably null |
Het |
B3galnt1 |
A |
G |
3: 69,482,548 (GRCm39) |
C238R |
probably damaging |
Het |
Bak1 |
A |
G |
17: 27,240,280 (GRCm39) |
L129P |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,195,404 (GRCm39) |
F1272L |
possibly damaging |
Het |
C2cd3 |
G |
A |
7: 100,109,096 (GRCm39) |
|
probably null |
Het |
Cacna1b |
A |
T |
2: 24,540,638 (GRCm39) |
V1363E |
probably damaging |
Het |
Capn11 |
T |
C |
17: 45,950,132 (GRCm39) |
N344S |
probably damaging |
Het |
Ces1f |
A |
T |
8: 93,989,623 (GRCm39) |
V431E |
possibly damaging |
Het |
Cog3 |
G |
T |
14: 75,984,533 (GRCm39) |
S94Y |
possibly damaging |
Het |
Defa29 |
A |
T |
8: 21,816,859 (GRCm39) |
S45T |
probably benign |
Het |
Dnaaf9 |
C |
A |
2: 130,579,372 (GRCm39) |
V753L |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,802,322 (GRCm39) |
D32G |
probably benign |
Het |
Dnajc24 |
T |
A |
2: 105,811,365 (GRCm39) |
N70I |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,113,948 (GRCm39) |
V1195I |
probably benign |
Het |
Enam |
A |
T |
5: 88,651,561 (GRCm39) |
R1023S |
probably benign |
Het |
Ephx4 |
A |
T |
5: 107,567,699 (GRCm39) |
Q219L |
probably damaging |
Het |
Eppk1 |
T |
C |
15: 75,993,204 (GRCm39) |
T1226A |
probably benign |
Het |
Eppk1 |
T |
C |
15: 75,993,335 (GRCm39) |
Q1182R |
probably benign |
Het |
Fiz1 |
A |
T |
7: 5,011,997 (GRCm39) |
S174T |
probably benign |
Het |
Ggnbp1 |
C |
T |
17: 27,248,619 (GRCm39) |
R63C |
probably benign |
Het |
Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
Gsdmd |
T |
A |
15: 75,735,295 (GRCm39) |
I13N |
probably damaging |
Het |
Gtpbp4 |
T |
C |
13: 9,037,322 (GRCm39) |
D292G |
probably damaging |
Het |
Hnf1a |
A |
T |
5: 115,098,233 (GRCm39) |
L123* |
probably null |
Het |
Ints11 |
A |
G |
4: 155,971,413 (GRCm39) |
D309G |
probably benign |
Het |
Ints5 |
T |
C |
19: 8,874,407 (GRCm39) |
S789P |
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,696,398 (GRCm39) |
A517V |
probably benign |
Het |
Kat7 |
A |
G |
11: 95,174,935 (GRCm39) |
Y270H |
probably damaging |
Het |
Kmt2b |
A |
G |
7: 30,276,199 (GRCm39) |
S1767P |
probably damaging |
Het |
Lonp2 |
A |
G |
8: 87,361,537 (GRCm39) |
D238G |
probably benign |
Het |
Lrfn3 |
A |
G |
7: 30,059,449 (GRCm39) |
W259R |
probably damaging |
Het |
Mmrn2 |
G |
A |
14: 34,119,879 (GRCm39) |
D250N |
probably benign |
Het |
Mre11a |
A |
T |
9: 14,710,965 (GRCm39) |
R49* |
probably null |
Het |
Mug1 |
T |
C |
6: 121,857,855 (GRCm39) |
L1116P |
possibly damaging |
Het |
Mup9 |
A |
G |
4: 60,374,202 (GRCm39) |
S234P |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,084,914 (GRCm39) |
F222L |
possibly damaging |
Het |
Nr2e3 |
A |
G |
9: 59,856,282 (GRCm39) |
V85A |
probably damaging |
Het |
Or4a79 |
A |
G |
2: 89,552,344 (GRCm39) |
I37T |
probably benign |
Het |
Prl3d2 |
A |
G |
13: 27,307,949 (GRCm39) |
T77A |
probably benign |
Het |
Prpsap1 |
A |
T |
11: 116,381,042 (GRCm39) |
M1K |
probably null |
Het |
Prrc2b |
C |
T |
2: 32,084,426 (GRCm39) |
T297M |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,681,805 (GRCm39) |
F48S |
probably benign |
Het |
Rbm24 |
A |
T |
13: 46,572,507 (GRCm39) |
M1L |
possibly damaging |
Het |
Ren1 |
C |
A |
1: 133,282,604 (GRCm39) |
T103K |
probably damaging |
Het |
Rpf2 |
C |
T |
10: 40,099,880 (GRCm39) |
G260S |
probably damaging |
Het |
Sall4 |
C |
T |
2: 168,594,561 (GRCm39) |
G862D |
probably damaging |
Het |
Samd4 |
G |
T |
14: 47,301,704 (GRCm39) |
R336L |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,913,083 (GRCm39) |
N1611S |
probably benign |
Het |
Skil |
A |
G |
3: 31,151,751 (GRCm39) |
H91R |
possibly damaging |
Het |
Snip1 |
T |
C |
4: 124,965,174 (GRCm39) |
V193A |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,852,663 (GRCm39) |
I87N |
probably damaging |
Het |
Syna |
T |
C |
5: 134,588,046 (GRCm39) |
H301R |
probably benign |
Het |
Tdg |
A |
G |
10: 82,477,216 (GRCm39) |
K89R |
possibly damaging |
Het |
Tdrd7 |
G |
A |
4: 46,010,902 (GRCm39) |
|
probably null |
Het |
Trak1 |
G |
A |
9: 121,289,491 (GRCm39) |
R601H |
probably damaging |
Het |
Triobp |
T |
C |
15: 78,844,144 (GRCm39) |
L120P |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,606,250 (GRCm39) |
N1697K |
probably benign |
Het |
Uts2r |
G |
A |
11: 121,051,495 (GRCm39) |
V120M |
possibly damaging |
Het |
Vmn2r59 |
A |
G |
7: 41,696,256 (GRCm39) |
L162P |
probably damaging |
Het |
Zbtb17 |
G |
A |
4: 141,189,134 (GRCm39) |
R18Q |
probably damaging |
Het |
Zfp551 |
A |
T |
7: 12,151,138 (GRCm39) |
C90* |
probably null |
Het |
Zfp605 |
T |
A |
5: 110,276,300 (GRCm39) |
C473S |
probably damaging |
Het |
Zfp764l1 |
T |
A |
7: 126,991,600 (GRCm39) |
S117C |
probably damaging |
Het |
Zfp975 |
A |
T |
7: 42,312,356 (GRCm39) |
Y86N |
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 |
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 |
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'- GTTCCGAACATTCTTGAACAGAG -3'
(R):5'- ACTTCCCTTGATTGATTAAGTCCG -3'
Sequencing Primer
(F):5'- CATTCTTGAACAGAGAAATACTCCC -3'
(R):5'- AGGGAACTTAATGATTTCAGTGTG -3'
|
Posted On |
2020-01-23 |