Incidental Mutation 'R5564:Fam193a'
| ID |
436737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence homology 193, member A |
| Synonyms |
|
| MMRRC Submission |
043121-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R5564 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 34578199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 231
(V231D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000180376]
|
| AlphaFold |
Q8CGI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180376
AA Change: V231D
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: V231D
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gvp__
|
70 |
93 |
4e-3 |
SMART |
|
coiled coil region
|
399 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
870 |
879 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
929 |
N/A |
INTRINSIC |
|
low complexity region
|
962 |
977 |
N/A |
INTRINSIC |
|
low complexity region
|
1049 |
1071 |
N/A |
INTRINSIC |
|
low complexity region
|
1105 |
1118 |
N/A |
INTRINSIC |
|
coiled coil region
|
1165 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1266 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1349 |
N/A |
INTRINSIC |
|
low complexity region
|
1441 |
1452 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
| Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
| Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
| B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
| Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
| Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
| Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
| Clasp2 |
T |
C |
9: 113,641,836 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
| Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
| E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
| Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
| Gjd3 |
C |
T |
11: 102,691,029 (GRCm39) |
G325S |
probably benign |
Het |
| Gpatch8 |
T |
A |
11: 102,429,111 (GRCm39) |
E39D |
unknown |
Het |
| Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
| Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
| Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
| Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
| Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
| M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
| Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
| Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
| Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
| Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
| Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
| Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
| Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
| Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
| Scmh1 |
C |
A |
4: 120,325,575 (GRCm39) |
N97K |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
| Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
| Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
| Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
| Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
| Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
| Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
| Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
| Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
| Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
| Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
possibly damaging |
Het |
|
| Other mutations in Fam193a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Fam193a
|
APN |
5 |
34,588,537 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02111:Fam193a
|
APN |
5 |
34,568,001 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02139:Fam193a
|
APN |
5 |
34,602,081 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02218:Fam193a
|
APN |
5 |
34,600,932 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
BB010:Fam193a
|
UTSW |
5 |
34,623,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
BB020:Fam193a
|
UTSW |
5 |
34,623,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
P0017:Fam193a
|
UTSW |
5 |
34,597,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Fam193a
|
UTSW |
5 |
34,597,879 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0172:Fam193a
|
UTSW |
5 |
34,622,957 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0413:Fam193a
|
UTSW |
5 |
34,623,552 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0512:Fam193a
|
UTSW |
5 |
34,583,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0735:Fam193a
|
UTSW |
5 |
34,596,722 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0764:Fam193a
|
UTSW |
5 |
34,600,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0904:Fam193a
|
UTSW |
5 |
34,619,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Fam193a
|
UTSW |
5 |
34,623,636 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1765:Fam193a
|
UTSW |
5 |
34,593,841 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1766:Fam193a
|
UTSW |
5 |
34,619,475 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1845:Fam193a
|
UTSW |
5 |
34,600,716 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2051:Fam193a
|
UTSW |
5 |
34,619,494 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2483:Fam193a
|
UTSW |
5 |
34,623,102 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3014:Fam193a
|
UTSW |
5 |
34,623,016 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4523:Fam193a
|
UTSW |
5 |
34,600,715 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4723:Fam193a
|
UTSW |
5 |
34,578,130 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4823:Fam193a
|
UTSW |
5 |
34,616,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4826:Fam193a
|
UTSW |
5 |
34,593,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4863:Fam193a
|
UTSW |
5 |
34,623,549 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5331:Fam193a
|
UTSW |
5 |
34,622,915 (GRCm39) |
splice site |
probably null |
|
|
R5364:Fam193a
|
UTSW |
5 |
34,623,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5580:Fam193a
|
UTSW |
5 |
34,578,132 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5784:Fam193a
|
UTSW |
5 |
34,623,567 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5933:Fam193a
|
UTSW |
5 |
34,623,024 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5949:Fam193a
|
UTSW |
5 |
34,597,816 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6106:Fam193a
|
UTSW |
5 |
34,616,374 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6181:Fam193a
|
UTSW |
5 |
34,600,884 (GRCm39) |
splice site |
probably null |
|
|
R7095:Fam193a
|
UTSW |
5 |
34,615,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7109:Fam193a
|
UTSW |
5 |
34,623,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7344:Fam193a
|
UTSW |
5 |
34,643,074 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7401:Fam193a
|
UTSW |
5 |
34,622,979 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7453:Fam193a
|
UTSW |
5 |
34,621,460 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7456:Fam193a
|
UTSW |
5 |
34,578,132 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7648:Fam193a
|
UTSW |
5 |
34,588,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7768:Fam193a
|
UTSW |
5 |
34,623,135 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7783:Fam193a
|
UTSW |
5 |
34,588,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7818:Fam193a
|
UTSW |
5 |
34,622,997 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7852:Fam193a
|
UTSW |
5 |
34,568,161 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7853:Fam193a
|
UTSW |
5 |
34,597,473 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7894:Fam193a
|
UTSW |
5 |
34,597,877 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7933:Fam193a
|
UTSW |
5 |
34,623,539 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7957:Fam193a
|
UTSW |
5 |
34,619,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8191:Fam193a
|
UTSW |
5 |
34,597,917 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8281:Fam193a
|
UTSW |
5 |
34,600,780 (GRCm39) |
missense |
unknown |
|
|
R8554:Fam193a
|
UTSW |
5 |
34,633,115 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8743:Fam193a
|
UTSW |
5 |
34,577,501 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8821:Fam193a
|
UTSW |
5 |
34,616,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8831:Fam193a
|
UTSW |
5 |
34,616,374 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8896:Fam193a
|
UTSW |
5 |
34,583,828 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8943:Fam193a
|
UTSW |
5 |
34,597,796 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9026:Fam193a
|
UTSW |
5 |
34,616,536 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9182:Fam193a
|
UTSW |
5 |
34,623,361 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9210:Fam193a
|
UTSW |
5 |
34,597,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9212:Fam193a
|
UTSW |
5 |
34,597,481 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9291:Fam193a
|
UTSW |
5 |
34,593,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Fam193a
|
UTSW |
5 |
34,615,371 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
Z1088:Fam193a
|
UTSW |
5 |
34,578,239 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGCTCTCTTTGTCATATGG -3'
(R):5'- CTGCTGAAGAAAAGAGCTGCAC -3'
Sequencing Primer
(F):5'- CTCTCTTTGTCATATGGGGTCAGAG -3'
(R):5'- GTTTTACTCAGGGCAAGCAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation