Incidental Mutation 'R7401:Fam193a'
| ID |
574157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence homology 193, member A |
| Synonyms |
|
| MMRRC Submission |
045483-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R7401 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34622979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1189
(E1189G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000181379]
|
| AlphaFold |
Q8CGI1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094867
AA Change: E903G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E903G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
113 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
270 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
593 |
N/A |
INTRINSIC |
|
low complexity region
|
608 |
643 |
N/A |
INTRINSIC |
|
low complexity region
|
676 |
691 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
785 |
N/A |
INTRINSIC |
|
low complexity region
|
819 |
832 |
N/A |
INTRINSIC |
|
coiled coil region
|
879 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
980 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1052 |
1063 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1166 |
N/A |
INTRINSIC |
|
Pfam:FAM193_C
|
1174 |
1230 |
3.5e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180376
AA Change: E1189G
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E1189G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000181379
|
| SMART Domains |
Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
99 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610318N02Rik |
A |
T |
16: 16,936,268 (GRCm39) |
L152Q |
probably benign |
Het |
| Abcg3 |
A |
T |
5: 105,114,640 (GRCm39) |
N292K |
probably damaging |
Het |
| Adamts3 |
T |
A |
5: 89,855,309 (GRCm39) |
|
probably null |
Het |
| Adgrg7 |
T |
C |
16: 56,562,781 (GRCm39) |
N519D |
probably benign |
Het |
| Adsl |
A |
G |
15: 80,846,983 (GRCm39) |
H263R |
probably damaging |
Het |
| Ak9 |
A |
T |
10: 41,299,000 (GRCm39) |
D1567V |
unknown |
Het |
| Bscl2 |
T |
C |
19: 8,823,914 (GRCm39) |
F280L |
possibly damaging |
Het |
| Cacna1b |
T |
A |
2: 24,569,306 (GRCm39) |
T873S |
probably benign |
Het |
| Cacna1c |
T |
C |
6: 119,029,669 (GRCm39) |
|
probably null |
Het |
| Cast |
G |
T |
13: 74,956,577 (GRCm39) |
A18E |
unknown |
Het |
| Cd207 |
A |
C |
6: 83,654,830 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,203,678 (GRCm39) |
S130P |
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,459 (GRCm39) |
N157K |
probably benign |
Het |
| Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
| Chaf1b |
G |
T |
16: 93,681,268 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,215,870 (GRCm39) |
I968V |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,833,466 (GRCm39) |
V362I |
probably benign |
Het |
| Crem |
A |
G |
18: 3,295,329 (GRCm39) |
S80P |
probably damaging |
Het |
| Csnk1g3 |
C |
T |
18: 54,063,390 (GRCm39) |
T267I |
probably damaging |
Het |
| Cyth1 |
A |
T |
11: 118,073,077 (GRCm39) |
N274K |
possibly damaging |
Het |
| Dicer1 |
C |
T |
12: 104,678,537 (GRCm39) |
G594S |
probably benign |
Het |
| Enpp1 |
C |
T |
10: 24,521,180 (GRCm39) |
C849Y |
probably damaging |
Het |
| Fermt1 |
C |
A |
2: 132,759,479 (GRCm39) |
V426L |
probably benign |
Het |
| Fes |
A |
G |
7: 80,028,524 (GRCm39) |
|
probably null |
Het |
| Gmeb1 |
C |
A |
4: 131,953,085 (GRCm39) |
L560F |
probably damaging |
Het |
| Hace1 |
T |
C |
10: 45,546,722 (GRCm39) |
L452P |
probably damaging |
Het |
| Hecw2 |
T |
A |
1: 53,943,502 (GRCm39) |
H975L |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,162,370 (GRCm39) |
C338S |
probably damaging |
Het |
| Iqcn |
T |
C |
8: 71,169,921 (GRCm39) |
I1337T |
probably benign |
Het |
| Kcnb1 |
T |
C |
2: 167,030,204 (GRCm39) |
S114G |
probably damaging |
Het |
| Lce1c |
A |
T |
3: 92,587,623 (GRCm39) |
T17S |
unknown |
Het |
| Lhfpl4 |
C |
A |
6: 113,153,627 (GRCm39) |
L141F |
possibly damaging |
Het |
| Ms4a14 |
T |
C |
19: 11,279,594 (GRCm39) |
E988G |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Neurod1 |
T |
A |
2: 79,285,290 (GRCm39) |
D31V |
probably benign |
Het |
| Neurod4 |
A |
G |
10: 130,106,927 (GRCm39) |
C116R |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,928,537 (GRCm39) |
V28A |
probably benign |
Het |
| Odad1 |
A |
C |
7: 45,592,189 (GRCm39) |
Q323P |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,449 (GRCm39) |
V207A |
probably benign |
Het |
| Or5d44 |
T |
G |
2: 88,141,772 (GRCm39) |
M123L |
probably benign |
Het |
| Pabpc4l |
A |
T |
3: 46,400,687 (GRCm39) |
I319N |
probably damaging |
Het |
| Pabpc4l |
T |
A |
3: 46,401,024 (GRCm39) |
R207W |
probably damaging |
Het |
| Pcm1 |
G |
A |
8: 41,762,568 (GRCm39) |
D1371N |
probably damaging |
Het |
| Peg10 |
G |
GGTC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,706,867 (GRCm39) |
A557T |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,466,602 (GRCm39) |
V58D |
probably damaging |
Het |
| Prpf40a |
A |
G |
2: 53,046,959 (GRCm39) |
V259A |
probably benign |
Het |
| Psmd3 |
A |
T |
11: 98,576,466 (GRCm39) |
T123S |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,339,103 (GRCm39) |
|
probably benign |
Het |
| Ptprr |
A |
G |
10: 115,884,141 (GRCm39) |
H66R |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,233,401 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
A |
10: 74,865,628 (GRCm39) |
E70V |
possibly damaging |
Het |
| Slc24a5 |
G |
A |
2: 124,930,111 (GRCm39) |
V471I |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spag9 |
A |
T |
11: 93,988,515 (GRCm39) |
T862S |
probably benign |
Het |
| Ssbp2 |
T |
A |
13: 91,839,002 (GRCm39) |
D291E |
probably benign |
Het |
| Supt5 |
T |
C |
7: 28,023,197 (GRCm39) |
K329E |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,014,155 (GRCm39) |
K3115N |
probably damaging |
Het |
| Tars1 |
A |
T |
15: 11,392,095 (GRCm39) |
L239* |
probably null |
Het |
| Tbxa2r |
T |
C |
10: 81,168,625 (GRCm39) |
Y105H |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,743 (GRCm39) |
D265E |
probably damaging |
Het |
| Tril |
T |
C |
6: 53,795,266 (GRCm39) |
D652G |
possibly damaging |
Het |
| Tsga10 |
T |
C |
1: 37,873,268 (GRCm39) |
R204G |
probably null |
Het |
| Twnk |
A |
G |
19: 45,000,219 (GRCm39) |
D645G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,217,122 (GRCm39) |
D1118V |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,238,071 (GRCm39) |
I83T |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,685,574 (GRCm39) |
W2233R |
possibly damaging |
Het |
| Vmn1r45 |
T |
A |
6: 89,910,416 (GRCm39) |
T185S |
possibly damaging |
Het |
| Vmn2r111 |
G |
T |
17: 22,790,067 (GRCm39) |
T313K |
possibly damaging |
Het |
| Wdr4 |
A |
G |
17: 31,728,806 (GRCm39) |
L123S |
probably damaging |
Het |
| Zfpm2 |
A |
G |
15: 40,966,386 (GRCm39) |
E957G |
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 |
|
R5564:Fam193a
|
UTSW |
5 |
34,578,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TGTAGGTACATTTGTTACTGCCTC -3'
(R):5'- AGCAAGCATGTCCAACTTGG -3'
Sequencing Primer
(F):5'- CTTGGGGGATCAAATTCAACTCAC -3'
(R):5'- GGAACAGTCTTTACTTGGCCGATC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation