Incidental Mutation 'IGL02218:Fam193a'
| ID |
285015 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence homology 193, member A |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.169)
|
| Stock # |
IGL02218
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 34600932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 346
(V346L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000202503]
|
| AlphaFold |
Q8CGI1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094867
AA Change: V346L
PolyPhen 2
Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: V346L
| 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: V632L
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: V632L
| 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: ENSMUST00000201005
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000202503
AA Change: V181L
|
| SMART Domains |
Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: V181L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
189 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,838 (GRCm39) |
D122G |
probably benign |
Het |
| Abcc8 |
T |
C |
7: 45,769,860 (GRCm39) |
D885G |
probably benign |
Het |
| Abcf1 |
T |
C |
17: 36,269,230 (GRCm39) |
K676R |
probably benign |
Het |
| Acsf2 |
A |
G |
11: 94,492,589 (GRCm39) |
V3A |
probably benign |
Het |
| Apba2 |
C |
T |
7: 64,345,425 (GRCm39) |
T205I |
probably benign |
Het |
| Bricd5 |
C |
A |
17: 24,694,296 (GRCm39) |
Y171* |
probably null |
Het |
| Camk2d |
T |
G |
3: 126,633,802 (GRCm39) |
N441K |
probably benign |
Het |
| Carm1 |
T |
C |
9: 21,480,808 (GRCm39) |
V94A |
probably damaging |
Het |
| Chd3 |
C |
T |
11: 69,242,920 (GRCm39) |
|
probably benign |
Het |
| Cipc |
A |
G |
12: 87,008,702 (GRCm39) |
N166S |
probably damaging |
Het |
| Cln5 |
A |
C |
14: 103,313,276 (GRCm39) |
|
probably null |
Het |
| Cnbd1 |
C |
A |
4: 18,887,739 (GRCm39) |
Q258H |
probably benign |
Het |
| Cyp8b1 |
A |
G |
9: 121,744,183 (GRCm39) |
L383P |
probably damaging |
Het |
| Dnai4 |
A |
G |
4: 102,953,971 (GRCm39) |
V76A |
probably damaging |
Het |
| Dok3 |
A |
G |
13: 55,671,599 (GRCm39) |
L324P |
probably damaging |
Het |
| Eftud2 |
A |
T |
11: 102,761,039 (GRCm39) |
F102Y |
possibly damaging |
Het |
| Ewsr1 |
G |
A |
11: 5,020,668 (GRCm39) |
P551S |
unknown |
Het |
| Golim4 |
A |
G |
3: 75,785,361 (GRCm39) |
S677P |
probably damaging |
Het |
| Gpr149 |
A |
G |
3: 62,437,952 (GRCm39) |
|
probably benign |
Het |
| Ins1 |
A |
T |
19: 52,253,121 (GRCm39) |
K20N |
probably benign |
Het |
| Itpr2 |
A |
T |
6: 146,141,760 (GRCm39) |
|
probably benign |
Het |
| Jup |
G |
A |
11: 100,272,665 (GRCm39) |
T249I |
probably damaging |
Het |
| Kctd20 |
T |
A |
17: 29,176,877 (GRCm39) |
N2K |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,824,892 (GRCm39) |
|
probably benign |
Het |
| Klrb1-ps1 |
T |
C |
6: 129,106,269 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap29-1 |
T |
C |
11: 99,869,884 (GRCm39) |
|
probably null |
Het |
| Lamb3 |
A |
T |
1: 193,010,941 (GRCm39) |
|
probably null |
Het |
| Large1 |
A |
G |
8: 73,638,750 (GRCm39) |
W276R |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,185,684 (GRCm39) |
N603D |
probably benign |
Het |
| Lrrc37a |
A |
G |
11: 103,391,207 (GRCm39) |
V1406A |
probably benign |
Het |
| Lrrc74a |
A |
G |
12: 86,795,822 (GRCm39) |
D265G |
probably benign |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,822,629 (GRCm39) |
|
probably benign |
Het |
| Msr1 |
A |
G |
8: 40,042,357 (GRCm39) |
V406A |
possibly damaging |
Het |
| Mtfr1l |
C |
T |
4: 134,256,491 (GRCm39) |
D225N |
probably benign |
Het |
| Nckap1l |
T |
A |
15: 103,391,954 (GRCm39) |
S796R |
possibly damaging |
Het |
| Oaf |
T |
A |
9: 43,136,219 (GRCm39) |
H119L |
probably benign |
Het |
| Or4d1 |
A |
T |
11: 87,804,889 (GRCm39) |
M281K |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,806,081 (GRCm39) |
H516L |
probably damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,387,434 (GRCm39) |
I1793F |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,394,255 (GRCm39) |
|
probably benign |
Het |
| Slc25a27 |
C |
T |
17: 43,974,964 (GRCm39) |
|
probably null |
Het |
| Slc2a2 |
A |
T |
3: 28,752,174 (GRCm39) |
E3D |
possibly damaging |
Het |
| Slc35f5 |
T |
C |
1: 125,512,292 (GRCm39) |
F14S |
probably damaging |
Het |
| Sspn |
T |
C |
6: 145,907,112 (GRCm39) |
V105A |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,229 (GRCm39) |
I263T |
probably damaging |
Het |
| Tek |
A |
C |
4: 94,743,574 (GRCm39) |
D863A |
probably damaging |
Het |
| Tent5b |
C |
T |
4: 133,213,462 (GRCm39) |
A111V |
probably damaging |
Het |
| Tm9sf4 |
G |
T |
2: 153,046,536 (GRCm39) |
V592F |
probably benign |
Het |
| Tmem259 |
A |
G |
10: 79,814,151 (GRCm39) |
M354T |
possibly damaging |
Het |
| Ttf2 |
T |
C |
3: 100,871,409 (GRCm39) |
E84G |
possibly damaging |
Het |
| Ttyh3 |
T |
C |
5: 140,612,246 (GRCm39) |
E487G |
probably damaging |
Het |
| Ubtf |
C |
A |
11: 102,197,526 (GRCm39) |
E709* |
probably null |
Het |
| Vmn1r119 |
T |
C |
7: 20,745,561 (GRCm39) |
R274G |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,546 (GRCm39) |
Q1125R |
probably 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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation