Incidental Mutation 'R4826:Fam193a'
| ID |
374139 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence homology 193, member A |
| Synonyms |
|
| MMRRC Submission |
042442-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
R4826 (G1)
|
| Quality Score |
204 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34593875 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 124
(E124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000202503]
|
| AlphaFold |
Q8CGI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094867
AA Change: E124G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E124G
| 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: E410G
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E410G
| 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 damaging
Transcript: ENSMUST00000202503
AA Change: E40G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: E40G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1192 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
| Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,306 (GRCm39) |
H240R |
probably damaging |
Het |
| Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
| Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
| Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
| Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,789 (GRCm39) |
C435S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh9 |
A |
T |
15: 77,673,146 (GRCm39) |
Y400* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
| Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
| Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,192,879 (GRCm39) |
S263P |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
| Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
| Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
| Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
| Slc7a2 |
T |
A |
8: 41,364,083 (GRCm39) |
I432N |
probably damaging |
Het |
| Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
| Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
| Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
probably benign |
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 |
|
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 |
|
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'- GCTAGTTTCTTTCAGCAGGTGC -3'
(R):5'- ATACCAAAAGCCCCTGATGG -3'
Sequencing Primer
(F):5'- GTTCTGTTCAGAGTGTGTACATAATC -3'
(R):5'- GGAGCTCTGCAACTCAGACTGTAG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation