Incidental Mutation 'R1832:Shoc1'
ID |
204850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shoc1
|
Ensembl Gene |
ENSMUSG00000038598 |
Gene Name |
shortage in chiasmata 1 |
Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
MMRRC Submission |
039859-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R1832 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 59066441 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 768
(I768L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
AlphaFold |
A2ALV5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000107547
AA Change: I768L
PolyPhen 2
Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000103171 Gene: ENSMUSG00000038598 AA Change: I768L
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 |
|
Meta Mutation Damage Score |
0.0632 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (82/82) |
Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003H04Rik |
T |
A |
3: 124,350,509 (GRCm39) |
D143V |
unknown |
Het |
Abca8a |
A |
T |
11: 109,962,277 (GRCm39) |
N525K |
probably damaging |
Het |
Abhd12 |
T |
A |
2: 150,690,338 (GRCm39) |
D119V |
probably damaging |
Het |
Adamts20 |
A |
T |
15: 94,184,225 (GRCm39) |
M1526K |
probably benign |
Het |
Ankdd1a |
A |
T |
9: 65,411,771 (GRCm39) |
|
probably null |
Het |
Ankrd1 |
C |
T |
19: 36,092,378 (GRCm39) |
C283Y |
possibly damaging |
Het |
Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
Bhlhe22 |
G |
A |
3: 18,109,139 (GRCm39) |
C63Y |
probably damaging |
Het |
Bmp8a |
A |
T |
4: 123,218,885 (GRCm39) |
|
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
Ccdc88b |
G |
A |
19: 6,830,900 (GRCm39) |
Q681* |
probably null |
Het |
Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
Chac2 |
T |
C |
11: 30,927,568 (GRCm39) |
N117S |
probably benign |
Het |
Cimap3 |
C |
T |
3: 105,921,912 (GRCm39) |
E4K |
possibly damaging |
Het |
Cldn8 |
T |
A |
16: 88,359,746 (GRCm39) |
I60F |
probably benign |
Het |
Col16a1 |
G |
A |
4: 129,970,850 (GRCm39) |
|
probably null |
Het |
Col4a1 |
A |
G |
8: 11,264,644 (GRCm39) |
|
probably benign |
Het |
Cyp2a4 |
G |
T |
7: 26,011,635 (GRCm39) |
E285D |
probably damaging |
Het |
Cyp4a31 |
G |
A |
4: 115,426,928 (GRCm39) |
G176D |
probably benign |
Het |
Dmxl2 |
A |
C |
9: 54,368,233 (GRCm39) |
Y246D |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
Dync2i1 |
T |
A |
12: 116,171,363 (GRCm39) |
S958C |
probably damaging |
Het |
Eif3h |
T |
C |
15: 51,728,832 (GRCm39) |
T8A |
possibly damaging |
Het |
Fbh1 |
G |
T |
2: 11,772,211 (GRCm39) |
L157I |
probably benign |
Het |
Fbxo40 |
C |
A |
16: 36,789,218 (GRCm39) |
G631* |
probably null |
Het |
Gabrb1 |
T |
A |
5: 72,279,281 (GRCm39) |
|
probably null |
Het |
Galc |
A |
G |
12: 98,200,499 (GRCm39) |
|
probably null |
Het |
Garin2 |
G |
A |
12: 78,762,280 (GRCm39) |
|
probably benign |
Het |
H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
Igkv13-54-1 |
A |
T |
6: 69,594,277 (GRCm39) |
M31L |
probably benign |
Het |
Lamc2 |
C |
T |
1: 153,041,933 (GRCm39) |
R67Q |
possibly damaging |
Het |
Lcn10 |
A |
G |
2: 25,575,151 (GRCm39) |
D173G |
probably damaging |
Het |
Llgl2 |
G |
T |
11: 115,741,926 (GRCm39) |
R656L |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
Ly6d |
T |
C |
15: 74,634,615 (GRCm39) |
K46E |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,975,306 (GRCm39) |
N88D |
probably damaging |
Het |
Mertk |
A |
T |
2: 128,604,132 (GRCm39) |
E422V |
probably benign |
Het |
Mixl1 |
A |
G |
1: 180,522,296 (GRCm39) |
V195A |
probably benign |
Het |
Nmnat3 |
T |
C |
9: 98,281,521 (GRCm39) |
V41A |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,319 (GRCm39) |
N38K |
probably damaging |
Het |
Or2a7 |
A |
G |
6: 43,151,834 (GRCm39) |
R305G |
probably benign |
Het |
Or7g34 |
A |
G |
9: 19,478,492 (GRCm39) |
Y63H |
possibly damaging |
Het |
Pappa2 |
T |
A |
1: 158,684,886 (GRCm39) |
E751V |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,635,189 (GRCm39) |
S355G |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,390,134 (GRCm39) |
V821A |
probably damaging |
Het |
Plxna4 |
A |
C |
6: 32,174,761 (GRCm39) |
D1109E |
probably benign |
Het |
Ppard |
A |
G |
17: 28,516,084 (GRCm39) |
M103V |
probably benign |
Het |
Pramel51 |
T |
C |
12: 88,145,218 (GRCm39) |
E44G |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,804,752 (GRCm39) |
T515A |
probably benign |
Het |
Rin2 |
A |
G |
2: 145,703,091 (GRCm39) |
I596V |
possibly damaging |
Het |
Rnls |
A |
G |
19: 33,145,895 (GRCm39) |
S75P |
possibly damaging |
Het |
Rsph10b |
A |
T |
5: 143,903,997 (GRCm39) |
Y236F |
possibly damaging |
Het |
Runx1t1 |
C |
T |
4: 13,835,628 (GRCm39) |
|
probably benign |
Het |
Sardh |
A |
G |
2: 27,125,581 (GRCm39) |
V311A |
possibly damaging |
Het |
Sbno2 |
G |
T |
10: 79,896,439 (GRCm39) |
Y889* |
probably null |
Het |
Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
Sema4g |
T |
A |
19: 44,987,456 (GRCm39) |
V534E |
probably benign |
Het |
Slc10a1 |
G |
A |
12: 81,000,446 (GRCm39) |
S351F |
probably benign |
Het |
Slc19a3 |
A |
T |
1: 83,000,468 (GRCm39) |
V183E |
probably damaging |
Het |
Slc25a12 |
A |
G |
2: 71,164,054 (GRCm39) |
Y74H |
possibly damaging |
Het |
Slc6a19 |
T |
A |
13: 73,841,069 (GRCm39) |
I114L |
probably benign |
Het |
Smpd2 |
A |
T |
10: 41,364,232 (GRCm39) |
C189S |
probably benign |
Het |
Spon1 |
T |
A |
7: 113,616,018 (GRCm39) |
V295D |
probably benign |
Het |
Tet3 |
A |
G |
6: 83,380,627 (GRCm39) |
S514P |
probably benign |
Het |
Tnk1 |
T |
C |
11: 69,747,754 (GRCm39) |
I49M |
probably damaging |
Het |
Trim80 |
A |
G |
11: 115,337,619 (GRCm39) |
T431A |
probably benign |
Het |
Vgf |
A |
T |
5: 137,060,153 (GRCm39) |
Q105L |
possibly damaging |
Het |
Vmn1r37 |
G |
T |
6: 66,708,780 (GRCm39) |
L135F |
probably benign |
Het |
Vps37d |
C |
T |
5: 135,102,594 (GRCm39) |
A128T |
possibly damaging |
Het |
Wwp1 |
T |
C |
4: 19,650,197 (GRCm39) |
D323G |
probably benign |
Het |
Zfp456 |
T |
A |
13: 67,515,482 (GRCm39) |
I75L |
probably benign |
Het |
Zfp990 |
A |
G |
4: 145,264,780 (GRCm39) |
I593V |
possibly 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 |
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'- CTGTCAAGGGCCAAACATAGC -3'
(R):5'- CAGGACTAAGTGAAATGTTAACTGG -3'
Sequencing Primer
(F):5'- GGCCAAACATAGCCTATCTTATAAC -3'
(R):5'- CAGGCAATTGCTATCGATCG -3'
|
Posted On |
2014-06-23 |