Incidental Mutation 'R8979:Shoc1'
| ID |
683616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shoc1
|
| Ensembl Gene |
ENSMUSG00000038598 |
| Gene Name |
shortage in chiasmata 1 |
| Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
| MMRRC Submission |
068812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.090)
|
| Stock # |
R8979 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59047276 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1448
(T1448A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
| AlphaFold |
A2ALV5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107547
AA Change: T1448A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: T1448A
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
A |
C |
3: 59,932,545 (GRCm39) |
R353S |
probably damaging |
Het |
| Ablim3 |
C |
T |
18: 61,982,397 (GRCm39) |
V183I |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,527,115 (GRCm39) |
Q607L |
probably benign |
Het |
| Adgrl1 |
A |
G |
8: 84,665,015 (GRCm39) |
D1234G |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,598,009 (GRCm39) |
Y945C |
probably damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,246,969 (GRCm39) |
W18R |
possibly damaging |
Het |
| Caskin1 |
G |
T |
17: 24,717,899 (GRCm39) |
A229S |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,847,340 (GRCm39) |
S1466T |
probably damaging |
Het |
| Cftr |
T |
C |
6: 18,227,947 (GRCm39) |
Y380H |
probably benign |
Het |
| Ciapin1 |
A |
T |
8: 95,549,753 (GRCm39) |
L301Q |
probably damaging |
Het |
| Clec1b |
A |
G |
6: 129,380,537 (GRCm39) |
E151G |
probably benign |
Het |
| Cngb1 |
G |
A |
8: 96,004,913 (GRCm39) |
|
probably benign |
Het |
| Cntln |
T |
A |
4: 85,048,910 (GRCm39) |
V240E |
probably damaging |
Het |
| Cog5 |
A |
G |
12: 31,840,894 (GRCm39) |
T240A |
probably benign |
Het |
| Col5a3 |
G |
A |
9: 20,686,597 (GRCm39) |
P1343S |
unknown |
Het |
| Cspp1 |
T |
A |
1: 10,134,630 (GRCm39) |
S127T |
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,895,978 (GRCm39) |
M2466L |
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,013,197 (GRCm39) |
W247R |
probably damaging |
Het |
| Gbp4 |
G |
A |
5: 105,267,248 (GRCm39) |
T557M |
probably benign |
Het |
| Ide |
G |
A |
19: 37,302,711 (GRCm39) |
A133V |
|
Het |
| Il2rb |
C |
A |
15: 78,376,052 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,448,951 (GRCm39) |
E519G |
probably benign |
Het |
| Kifc1 |
A |
G |
17: 34,102,228 (GRCm39) |
Y462H |
possibly damaging |
Het |
| Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,129 (GRCm39) |
A689V |
probably benign |
Het |
| Lrrc37a |
C |
A |
11: 103,393,833 (GRCm39) |
V531L |
possibly damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mid1 |
G |
A |
X: 168,768,009 (GRCm39) |
A386T |
probably benign |
Het |
| Mms22l |
C |
T |
4: 24,580,070 (GRCm39) |
L760F |
probably benign |
Het |
| Mplkipl1 |
A |
G |
19: 61,164,169 (GRCm39) |
Y89H |
probably damaging |
Het |
| Mst1r |
C |
T |
9: 107,792,478 (GRCm39) |
R951C |
probably damaging |
Het |
| Naalad2 |
G |
A |
9: 18,242,146 (GRCm39) |
T586M |
probably damaging |
Het |
| Or4c108 |
C |
T |
2: 88,804,173 (GRCm39) |
V21I |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,169 (GRCm39) |
N363S |
probably benign |
Het |
| Padi6 |
T |
G |
4: 140,466,474 (GRCm39) |
N145T |
probably benign |
Het |
| Plcl2 |
T |
A |
17: 50,947,145 (GRCm39) |
M1008K |
possibly damaging |
Het |
| Plekha5 |
T |
C |
6: 140,496,818 (GRCm39) |
S435P |
probably damaging |
Het |
| Prkacb |
C |
A |
3: 146,518,411 (GRCm39) |
G10C |
probably benign |
Het |
| Psg29 |
A |
T |
7: 16,937,544 (GRCm39) |
|
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,671,120 (GRCm39) |
T213A |
probably damaging |
Het |
| Ptpro |
A |
G |
6: 137,345,140 (GRCm39) |
I49V |
probably benign |
Het |
| Rassf1 |
A |
G |
9: 107,429,004 (GRCm39) |
D70G |
probably benign |
Het |
| Rbm24 |
A |
T |
13: 46,572,531 (GRCm39) |
T9S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,218,937 (GRCm39) |
T948A |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,609,924 (GRCm39) |
C4301S |
probably benign |
Het |
| S100pbp |
T |
C |
4: 129,076,133 (GRCm39) |
D64G |
probably damaging |
Het |
| Samd3 |
A |
G |
10: 26,120,428 (GRCm39) |
K141E |
possibly damaging |
Het |
| Scgb1b29 |
A |
T |
7: 32,141,277 (GRCm39) |
K65* |
probably null |
Het |
| Slc51b |
T |
C |
9: 65,320,210 (GRCm39) |
N86D |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,715,720 (GRCm39) |
V452I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,896,976 (GRCm39) |
|
probably null |
Het |
| Spats2 |
T |
C |
15: 99,110,123 (GRCm39) |
S507P |
possibly damaging |
Het |
| Spns3 |
C |
T |
11: 72,420,416 (GRCm39) |
A357T |
probably damaging |
Het |
| Suox |
A |
T |
10: 128,507,367 (GRCm39) |
H220Q |
probably damaging |
Het |
| Tbc1d9b |
A |
T |
11: 50,061,809 (GRCm39) |
S1106C |
probably benign |
Het |
| Tbx1 |
T |
C |
16: 18,406,745 (GRCm39) |
D9G |
unknown |
Het |
| Tcaf2 |
A |
T |
6: 42,601,404 (GRCm39) |
F885Y |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,593,262 (GRCm39) |
T73A |
probably benign |
Het |
| Tigd3 |
G |
A |
19: 5,941,853 (GRCm39) |
P426S |
probably benign |
Het |
| Tmem233 |
T |
A |
5: 116,221,260 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf11a |
A |
G |
1: 105,754,825 (GRCm39) |
D299G |
possibly damaging |
Het |
| Trim32 |
T |
C |
4: 65,531,692 (GRCm39) |
V83A |
possibly damaging |
Het |
| Unc13a |
A |
T |
8: 72,113,125 (GRCm39) |
M242K |
probably benign |
Het |
| Vat1 |
C |
T |
11: 101,353,041 (GRCm39) |
G293D |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,892 (GRCm39) |
V186D |
possibly damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,096,764 (GRCm39) |
Y345H |
probably damaging |
Het |
| Zzef1 |
C |
T |
11: 72,766,003 (GRCm39) |
T1510I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTCATTGAAGTTTGAGTATAGAGC -3'
(R):5'- TCACATACAGAAATGCAAATGCTGG -3'
Sequencing Primer
(F):5'- ATCTGCATGTGGATATGTCAAAGG -3'
(R):5'- ATGCAAATGCTGGGACCC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation