Incidental Mutation 'R7109:Fam193a'
ID |
551384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam193a
|
Ensembl Gene |
ENSMUSG00000037210 |
Gene Name |
family with sequence homology 193, member A |
Synonyms |
|
MMRRC Submission |
045201-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7109 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 34623165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 1251
(T1251K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000181379]
|
AlphaFold |
Q8CGI1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094867
AA Change: T965K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000092463 Gene: ENSMUSG00000037210 AA Change: T965K
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: T1251K
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000138082 Gene: ENSMUSG00000037210 AA Change: T1251K
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: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
G |
2: 151,315,673 (GRCm39) |
K2Q |
probably damaging |
Het |
Abtb2 |
T |
C |
2: 103,545,860 (GRCm39) |
Y903H |
probably benign |
Het |
Adamtsl3 |
C |
T |
7: 82,261,069 (GRCm39) |
P29S |
|
Het |
Alcam |
T |
A |
16: 52,097,192 (GRCm39) |
T355S |
probably damaging |
Het |
Anapc1 |
A |
G |
2: 128,516,522 (GRCm39) |
V404A |
probably benign |
Het |
Bst2 |
A |
G |
8: 71,989,926 (GRCm39) |
F49S |
possibly damaging |
Het |
C1qtnf9 |
G |
C |
14: 61,017,019 (GRCm39) |
W183S |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,648,087 (GRCm39) |
I132V |
possibly damaging |
Het |
Cchcr1 |
T |
A |
17: 35,828,838 (GRCm39) |
|
probably null |
Het |
Cenpk |
A |
G |
13: 104,367,256 (GRCm39) |
K31E |
probably benign |
Het |
Cfap221 |
T |
C |
1: 119,853,301 (GRCm39) |
K798E |
possibly damaging |
Het |
Copb2 |
T |
A |
9: 98,463,333 (GRCm39) |
|
probably null |
Het |
Dennd1a |
T |
A |
2: 37,938,804 (GRCm39) |
Y102F |
probably damaging |
Het |
Eif2ak4 |
C |
T |
2: 118,235,532 (GRCm39) |
P88S |
probably damaging |
Het |
Epha6 |
C |
A |
16: 59,503,031 (GRCm39) |
V959F |
probably damaging |
Het |
Herc1 |
A |
T |
9: 66,389,171 (GRCm39) |
Q3896L |
probably benign |
Het |
Ikbip |
C |
A |
10: 90,919,090 (GRCm39) |
D34E |
probably benign |
Het |
Insr |
A |
G |
8: 3,308,481 (GRCm39) |
V185A |
probably benign |
Het |
Jakmip1 |
C |
T |
5: 37,332,109 (GRCm39) |
Q930* |
probably null |
Het |
Klc1 |
A |
G |
12: 111,743,299 (GRCm39) |
I209V |
probably benign |
Het |
Lrrk2 |
T |
A |
15: 91,648,985 (GRCm39) |
L1660M |
probably damaging |
Het |
Mbd3l1 |
G |
T |
9: 18,396,210 (GRCm39) |
D112Y |
possibly damaging |
Het |
Mrps2 |
T |
A |
2: 28,358,258 (GRCm39) |
V16E |
probably benign |
Het |
Ncoa1 |
G |
A |
12: 4,372,978 (GRCm39) |
T141I |
possibly damaging |
Het |
Ndst2 |
G |
T |
14: 20,779,911 (GRCm39) |
R110S |
probably damaging |
Het |
Nlrp2 |
A |
G |
7: 5,331,616 (GRCm39) |
V260A |
probably damaging |
Het |
Or4d10 |
A |
G |
19: 12,051,576 (GRCm39) |
I140T |
probably benign |
Het |
Or51a6 |
A |
T |
7: 102,604,460 (GRCm39) |
V116E |
probably damaging |
Het |
Or5p1 |
A |
G |
7: 107,916,959 (GRCm39) |
N286S |
probably damaging |
Het |
Or7g16 |
A |
T |
9: 18,726,904 (GRCm39) |
S229T |
probably benign |
Het |
Pah |
T |
C |
10: 87,406,148 (GRCm39) |
V262A |
probably damaging |
Het |
Pcnt |
T |
G |
10: 76,205,738 (GRCm39) |
E2538A |
probably damaging |
Het |
Pdxk |
T |
A |
10: 78,282,810 (GRCm39) |
I162F |
probably damaging |
Het |
Plod2 |
T |
C |
9: 92,455,650 (GRCm39) |
F110L |
probably damaging |
Het |
Pm20d2 |
A |
T |
4: 33,187,186 (GRCm39) |
L154Q |
probably damaging |
Het |
Podxl2 |
C |
T |
6: 88,820,566 (GRCm39) |
V445I |
possibly damaging |
Het |
Ppp1r3a |
A |
T |
6: 14,719,235 (GRCm39) |
W560R |
probably benign |
Het |
Rasal3 |
A |
G |
17: 32,611,683 (GRCm39) |
S815P |
probably damaging |
Het |
Rdm1 |
A |
G |
11: 101,524,654 (GRCm39) |
K196E |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Scn1a |
T |
C |
2: 66,181,286 (GRCm39) |
D79G |
possibly damaging |
Het |
Slc22a21 |
A |
G |
11: 53,870,329 (GRCm39) |
Y119H |
possibly damaging |
Het |
Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
Synrg |
C |
A |
11: 83,930,498 (GRCm39) |
A1280E |
possibly damaging |
Het |
Szt2 |
A |
G |
4: 118,232,676 (GRCm39) |
C2396R |
unknown |
Het |
Trappc3 |
A |
G |
4: 126,167,726 (GRCm39) |
N95S |
probably benign |
Het |
Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,113,681 (GRCm39) |
D633E |
probably benign |
Het |
Wasl |
G |
A |
6: 24,633,186 (GRCm39) |
P151S |
probably benign |
Het |
Wwp2 |
A |
G |
8: 108,209,988 (GRCm39) |
N122S |
probably benign |
Het |
Zfp51 |
A |
G |
17: 21,683,831 (GRCm39) |
R149G |
possibly damaging |
Het |
Zfp764 |
A |
G |
7: 127,003,887 (GRCm39) |
S415P |
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 |
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'- ACGGGAGCATCTGCATCATC -3'
(R):5'- TGACTTCCTTAGGTAGCAGAAGC -3'
Sequencing Primer
(F):5'- CATCTGCATCATCAGGAGGAGC -3'
(R):5'- CAGAAGCTTGGAGGGGTCTC -3'
|
Posted On |
2019-05-15 |