Incidental Mutation 'R8943:Fam193a'
ID |
681089 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam193a
|
Ensembl Gene |
ENSMUSG00000037210 |
Gene Name |
family with sequence homology 193, member A |
Synonyms |
|
MMRRC Submission |
068782-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R8943 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34597796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 531
(D531G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000202503]
|
AlphaFold |
Q8CGI1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094867
AA Change: D245G
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000092463 Gene: ENSMUSG00000037210 AA Change: D245G
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 |
probably benign
Transcript: ENSMUST00000180376
AA Change: D531G
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000138082 Gene: ENSMUSG00000037210 AA Change: D531G
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 |
probably benign
Transcript: ENSMUST00000202503
|
SMART Domains |
Protein: ENSMUSP00000143922 Gene: ENSMUSG00000037210
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 |
0.0698 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
98% (50/51) |
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 |
2610021A01Rik |
T |
C |
7: 41,275,667 (GRCm39) |
S457P |
probably damaging |
Het |
Aak1 |
A |
G |
6: 86,964,234 (GRCm39) |
N945S |
unknown |
Het |
Actr1a |
C |
A |
19: 46,369,438 (GRCm39) |
R192L |
possibly damaging |
Het |
Adgrl2 |
T |
A |
3: 148,534,119 (GRCm39) |
N1036I |
probably damaging |
Het |
Ak5 |
A |
G |
3: 152,361,511 (GRCm39) |
V137A |
probably damaging |
Het |
Aldh1a2 |
T |
C |
9: 71,169,055 (GRCm39) |
V179A |
probably damaging |
Het |
Ap2b1 |
A |
T |
11: 83,237,579 (GRCm39) |
I548F |
probably damaging |
Het |
Arhgef10l |
A |
G |
4: 140,292,550 (GRCm39) |
Y352H |
probably damaging |
Het |
Atad5 |
C |
T |
11: 79,986,524 (GRCm39) |
T537M |
possibly damaging |
Het |
Atoh7 |
A |
G |
10: 62,935,938 (GRCm39) |
K2E |
possibly damaging |
Het |
BC061237 |
A |
G |
14: 44,741,658 (GRCm39) |
I134V |
probably benign |
Het |
Cadm1 |
T |
C |
9: 47,701,136 (GRCm39) |
I141T |
probably damaging |
Het |
Capn10 |
T |
C |
1: 92,871,454 (GRCm39) |
S351P |
probably damaging |
Het |
Cct6b |
T |
C |
11: 82,654,959 (GRCm39) |
|
probably benign |
Het |
Cd19 |
T |
C |
7: 126,011,330 (GRCm39) |
T284A |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,432,253 (GRCm39) |
Y47C |
probably damaging |
Het |
Cldn18 |
T |
C |
9: 99,578,162 (GRCm39) |
M194V |
probably benign |
Het |
Dgkb |
T |
A |
12: 38,652,777 (GRCm39) |
Y721N |
probably damaging |
Het |
Dmbt1 |
A |
G |
7: 130,721,372 (GRCm39) |
Q1880R |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,599,646 (GRCm39) |
N311S |
possibly damaging |
Het |
Dpysl5 |
G |
T |
5: 30,935,375 (GRCm39) |
M159I |
probably benign |
Het |
Eif2b3 |
G |
A |
4: 116,901,778 (GRCm39) |
G147E |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,555,329 (GRCm39) |
|
probably benign |
Het |
Foxe3 |
C |
A |
4: 114,782,523 (GRCm39) |
A230S |
unknown |
Het |
Gm5591 |
A |
T |
7: 38,219,727 (GRCm39) |
V382E |
probably benign |
Het |
Gm7995 |
A |
T |
14: 42,132,228 (GRCm39) |
N21I |
probably damaging |
Het |
Ipo8 |
G |
A |
6: 148,676,547 (GRCm39) |
P981S |
probably benign |
Het |
Kcnh8 |
A |
G |
17: 53,104,486 (GRCm39) |
D161G |
probably benign |
Het |
Krt71 |
A |
G |
15: 101,645,180 (GRCm39) |
I377T |
possibly damaging |
Het |
Krt75 |
A |
T |
15: 101,476,767 (GRCm39) |
M374K |
probably benign |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Lpcat1 |
A |
G |
13: 73,662,029 (GRCm39) |
T409A |
probably benign |
Het |
Lrch1 |
A |
T |
14: 75,032,808 (GRCm39) |
I514K |
probably benign |
Het |
Mc4r |
A |
C |
18: 66,993,110 (GRCm39) |
M1R |
probably null |
Het |
Mthfd1l |
A |
T |
10: 3,978,466 (GRCm39) |
H442L |
probably damaging |
Het |
Or5d38 |
T |
A |
2: 87,954,718 (GRCm39) |
I204F |
probably damaging |
Het |
Pdcd1lg2 |
T |
C |
19: 29,423,553 (GRCm39) |
M199T |
probably benign |
Het |
Pigg |
G |
A |
5: 108,484,066 (GRCm39) |
V438M |
probably damaging |
Het |
Pira12 |
T |
C |
7: 3,898,365 (GRCm39) |
E319G |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,920,681 (GRCm39) |
|
probably null |
Het |
Rbm15 |
T |
A |
3: 107,239,372 (GRCm39) |
Y342F |
possibly damaging |
Het |
Rhbdl1 |
A |
T |
17: 26,054,116 (GRCm39) |
V278E |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,465,669 (GRCm39) |
N4781S |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,525,206 (GRCm39) |
|
silent |
Het |
Sfswap |
A |
G |
5: 129,581,168 (GRCm39) |
R114G |
probably damaging |
Het |
Sohlh2 |
C |
A |
3: 55,104,282 (GRCm39) |
A258D |
possibly damaging |
Het |
Sstr4 |
T |
A |
2: 148,237,782 (GRCm39) |
V131D |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,834,861 (GRCm39) |
T45A |
probably damaging |
Het |
Tmem131l |
A |
T |
3: 83,831,479 (GRCm39) |
F818I |
probably damaging |
Het |
Trappc6b |
A |
G |
12: 59,097,149 (GRCm39) |
F58L |
probably damaging |
Het |
Vmn1r229 |
A |
T |
17: 21,035,418 (GRCm39) |
H221L |
possibly damaging |
Het |
Vmn1r33 |
T |
A |
6: 66,588,783 (GRCm39) |
Y257F |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 101,993,231 (GRCm39) |
|
probably benign |
Het |
Zfp446 |
C |
T |
7: 12,713,564 (GRCm39) |
Q177* |
probably null |
Het |
Zup1 |
A |
G |
10: 33,795,301 (GRCm39) |
*552Q |
probably null |
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 |
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 |
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'- CACTAATACAAGCAGAGGTTTGAAC -3'
(R):5'- AAAGCACTGCAATGGTGATTG -3'
Sequencing Primer
(F):5'- GTTTGAACCCAACCTTCAGAGTTGG -3'
(R):5'- AGCACTGCAATGGTGATTGTATTTAG -3'
|
Posted On |
2021-08-31 |