Incidental Mutation 'R0764:Fam193a'
| ID |
72543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence homology 193, member A |
| Synonyms |
|
| MMRRC Submission |
038944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.176)
|
| Stock # |
R0764 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34600685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 305
(F305L)
|
| 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: F305L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: F305L
| 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: F591L
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: F591L
| 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: F140L
|
| SMART Domains |
Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: F140L
| 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 |
0.0890 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.1%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,950,772 (GRCm39) |
Y898N |
probably damaging |
Het |
| Acp4 |
T |
C |
7: 43,901,738 (GRCm39) |
|
probably benign |
Het |
| Adipor2 |
T |
C |
6: 119,334,215 (GRCm39) |
I332V |
probably benign |
Het |
| Ago3 |
T |
A |
4: 126,248,885 (GRCm39) |
K555N |
possibly damaging |
Het |
| Angpt4 |
A |
G |
2: 151,753,204 (GRCm39) |
|
probably benign |
Het |
| Ano5 |
G |
T |
7: 51,187,590 (GRCm39) |
|
probably benign |
Het |
| Ap3b1 |
C |
T |
13: 94,616,387 (GRCm39) |
|
probably benign |
Het |
| Cbl |
A |
T |
9: 44,075,449 (GRCm39) |
C399S |
probably damaging |
Het |
| Cdkl2 |
C |
A |
5: 92,168,136 (GRCm39) |
V353L |
probably benign |
Het |
| Celsr3 |
A |
G |
9: 108,705,017 (GRCm39) |
Y500C |
probably damaging |
Het |
| Cep162 |
A |
G |
9: 87,083,798 (GRCm39) |
S1242P |
probably damaging |
Het |
| Crhr1 |
C |
T |
11: 104,050,152 (GRCm39) |
R66W |
probably damaging |
Het |
| Ddx49 |
T |
C |
8: 70,749,907 (GRCm39) |
E170G |
probably benign |
Het |
| Fam76a |
C |
T |
4: 132,638,010 (GRCm39) |
G198R |
probably damaging |
Het |
| Gm43302 |
T |
A |
5: 105,428,355 (GRCm39) |
I130F |
probably benign |
Het |
| Hectd4 |
T |
A |
5: 121,424,832 (GRCm39) |
I745N |
possibly damaging |
Het |
| Ina |
T |
A |
19: 47,012,087 (GRCm39) |
*502K |
probably null |
Het |
| Kdm1b |
A |
T |
13: 47,222,079 (GRCm39) |
D506V |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,659,249 (GRCm39) |
|
probably null |
Het |
| Ly6g2 |
T |
A |
15: 75,092,572 (GRCm39) |
F97Y |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,353,613 (GRCm39) |
D1215E |
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,879 (GRCm39) |
|
probably benign |
Het |
| Nectin2 |
T |
A |
7: 19,483,096 (GRCm39) |
|
probably null |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2aj5 |
G |
T |
16: 19,425,182 (GRCm39) |
P79T |
probably damaging |
Het |
| Or4a71 |
A |
G |
2: 89,358,340 (GRCm39) |
V138A |
probably benign |
Het |
| Osbp |
A |
G |
19: 11,961,520 (GRCm39) |
|
probably benign |
Het |
| Otog |
A |
G |
7: 45,949,918 (GRCm39) |
D2460G |
probably benign |
Het |
| Pcgf1 |
T |
C |
6: 83,056,150 (GRCm39) |
C2R |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,357,142 (GRCm39) |
V674M |
probably damaging |
Het |
| Pias3 |
C |
T |
3: 96,608,611 (GRCm39) |
P218S |
probably damaging |
Het |
| Plod3 |
C |
T |
5: 137,018,437 (GRCm39) |
|
probably benign |
Het |
| Purb |
C |
T |
11: 6,425,661 (GRCm39) |
V76M |
probably damaging |
Het |
| Ranbp1 |
C |
A |
16: 18,058,022 (GRCm39) |
E181* |
probably null |
Het |
| Rit2 |
T |
C |
18: 31,286,754 (GRCm39) |
|
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,566 (GRCm39) |
T399K |
probably damaging |
Het |
| Slc22a13 |
T |
C |
9: 119,037,746 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
A |
14: 49,543,796 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf17 |
C |
T |
16: 11,133,063 (GRCm39) |
T47M |
possibly damaging |
Het |
| Tram1 |
A |
G |
1: 13,649,933 (GRCm39) |
I97T |
probably damaging |
Het |
| Ttc38 |
T |
C |
15: 85,730,604 (GRCm39) |
|
probably benign |
Het |
| Zfp113 |
T |
A |
5: 138,143,506 (GRCm39) |
Q248L |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGAACACTCTTCGTGAGCAGACC -3'
(R):5'- ACCTGAGGGGACTTAAAATGCAGC -3'
Sequencing Primer
(F):5'- GTGAGCAGACCCATGACCTTAG -3'
(R):5'- GGGACTTAAAATGCAGCATTCTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation