Incidental Mutation 'R7095:Fam193a'
ID |
550406 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam193a
|
Ensembl Gene |
ENSMUSG00000037210 |
Gene Name |
family with sequence homology 193, member A |
Synonyms |
|
MMRRC Submission |
045243-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.169)
|
Stock # |
R7095 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
34527277-34643800 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34615378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 816
(L816F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
|
AlphaFold |
Q8CGI1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094867
AA Change: L530F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000092463 Gene: ENSMUSG00000037210 AA Change: L530F
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 damaging
Transcript: ENSMUST00000180376
AA Change: L816F
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000138082 Gene: ENSMUSG00000037210 AA Change: L816F
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
|
Meta Mutation Damage Score |
0.1594 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
G |
17: 36,268,403 (GRCm39) |
V809A |
possibly damaging |
Het |
Adam32 |
T |
A |
8: 25,404,086 (GRCm39) |
D242V |
probably damaging |
Het |
Adamts9 |
T |
A |
6: 92,864,672 (GRCm39) |
H763L |
probably benign |
Het |
Aff1 |
A |
G |
5: 103,990,951 (GRCm39) |
D967G |
probably damaging |
Het |
Anpep |
A |
T |
7: 79,491,950 (GRCm39) |
L17Q |
possibly damaging |
Het |
Appbp2 |
G |
T |
11: 85,125,553 (GRCm39) |
S28* |
probably null |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Bod1l |
A |
G |
5: 41,952,411 (GRCm39) |
|
probably null |
Het |
Capn5 |
G |
A |
7: 97,775,038 (GRCm39) |
T534I |
probably benign |
Het |
Cbx2 |
T |
C |
11: 118,918,885 (GRCm39) |
I150T |
probably damaging |
Het |
Cdh11 |
A |
G |
8: 103,384,899 (GRCm39) |
V392A |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,391,373 (GRCm39) |
C803S |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,741,905 (GRCm39) |
T114A |
probably benign |
Het |
Chd2 |
A |
T |
7: 73,121,629 (GRCm39) |
D994E |
probably damaging |
Het |
Chtf18 |
C |
A |
17: 25,941,652 (GRCm39) |
W584C |
probably damaging |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dgkh |
C |
A |
14: 78,865,224 (GRCm39) |
M172I |
probably benign |
Het |
Dpy19l2 |
T |
G |
9: 24,607,110 (GRCm39) |
H117P |
probably benign |
Het |
Dzip3 |
A |
T |
16: 48,748,153 (GRCm39) |
N908K |
probably benign |
Het |
Erc2 |
A |
T |
14: 27,620,550 (GRCm39) |
N393Y |
probably damaging |
Het |
Fam118b |
T |
C |
9: 35,132,786 (GRCm39) |
E291G |
possibly damaging |
Het |
Fat2 |
A |
G |
11: 55,202,157 (GRCm39) |
Y306H |
probably damaging |
Het |
Fndc10 |
C |
T |
4: 155,779,574 (GRCm39) |
T206I |
probably damaging |
Het |
Fzd1 |
GGGACTCCTCCACCTCCCTGGA |
GGGA |
5: 4,805,824 (GRCm39) |
|
probably benign |
Het |
Gsk3a |
A |
T |
7: 24,933,279 (GRCm39) |
Y177N |
probably damaging |
Het |
Haus5 |
T |
C |
7: 30,358,997 (GRCm39) |
T222A |
probably benign |
Het |
Igfbp7 |
G |
T |
5: 77,549,337 (GRCm39) |
Q189K |
probably benign |
Het |
Inppl1 |
A |
T |
7: 101,476,663 (GRCm39) |
Y771* |
probably null |
Het |
Iqck |
A |
T |
7: 118,514,814 (GRCm39) |
Y234F |
probably damaging |
Het |
Irs1 |
G |
T |
1: 82,267,819 (GRCm39) |
C132* |
probably null |
Het |
Jmjd1c |
T |
G |
10: 67,055,411 (GRCm39) |
V277G |
probably benign |
Het |
Klhl22 |
G |
A |
16: 17,610,614 (GRCm39) |
V622M |
probably damaging |
Het |
Kri1 |
C |
T |
9: 21,190,728 (GRCm39) |
E378K |
|
Het |
Lilra6 |
C |
T |
7: 3,916,196 (GRCm39) |
G221D |
probably damaging |
Het |
Mecom |
T |
C |
3: 30,035,103 (GRCm39) |
E191G |
probably damaging |
Het |
Mgrn1 |
T |
A |
16: 4,745,528 (GRCm39) |
|
probably null |
Het |
Mical1 |
C |
T |
10: 41,355,206 (GRCm39) |
|
probably null |
Het |
Mlxipl |
T |
C |
5: 135,162,884 (GRCm39) |
Y711H |
possibly damaging |
Het |
Mpl |
T |
A |
4: 118,301,260 (GRCm39) |
H535L |
|
Het |
Mtarc1 |
A |
G |
1: 184,527,437 (GRCm39) |
L297P |
probably damaging |
Het |
Mtfr2 |
C |
A |
10: 20,228,666 (GRCm39) |
H71N |
probably benign |
Het |
Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
Myh15 |
A |
G |
16: 48,992,272 (GRCm39) |
Q1582R |
possibly damaging |
Het |
Neb |
C |
T |
2: 52,067,635 (GRCm39) |
E6062K |
possibly damaging |
Het |
Nlrp4c |
G |
A |
7: 6,063,792 (GRCm39) |
A67T |
probably damaging |
Het |
Noc3l |
T |
A |
19: 38,800,789 (GRCm39) |
H231L |
probably benign |
Het |
Odf1 |
T |
C |
15: 38,219,803 (GRCm39) |
Y44H |
possibly damaging |
Het |
Or52e2 |
G |
A |
7: 102,804,537 (GRCm39) |
T139I |
probably damaging |
Het |
Or52s1b |
C |
T |
7: 102,822,253 (GRCm39) |
R197H |
probably benign |
Het |
Or5j3 |
C |
T |
2: 86,129,021 (GRCm39) |
P287L |
probably benign |
Het |
Otol1 |
G |
T |
3: 69,926,027 (GRCm39) |
E67D |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,062,554 (GRCm39) |
S598G |
probably benign |
Het |
Ppwd1 |
T |
A |
13: 104,342,134 (GRCm39) |
T607S |
probably benign |
Het |
Prag1 |
A |
G |
8: 36,569,714 (GRCm39) |
N99S |
probably benign |
Het |
Ralgds |
C |
A |
2: 28,439,320 (GRCm39) |
Q737K |
possibly damaging |
Het |
Scyl2 |
T |
C |
10: 89,505,549 (GRCm39) |
H98R |
probably damaging |
Het |
Secisbp2 |
A |
C |
13: 51,831,290 (GRCm39) |
Q575H |
probably benign |
Het |
Slc9a5 |
A |
T |
8: 106,084,268 (GRCm39) |
H497L |
probably benign |
Het |
Sufu |
T |
A |
19: 46,464,027 (GRCm39) |
V414E |
probably damaging |
Het |
Tbc1d22b |
A |
T |
17: 29,818,843 (GRCm39) |
E399V |
probably damaging |
Het |
Tcp10c |
G |
A |
17: 13,576,196 (GRCm39) |
V59I |
probably benign |
Het |
Tdpoz3 |
T |
C |
3: 93,734,368 (GRCm39) |
S348P |
probably benign |
Het |
Tmem219 |
A |
T |
7: 126,490,928 (GRCm39) |
F176L |
probably damaging |
Het |
Trav6-2 |
A |
G |
14: 52,905,291 (GRCm39) |
D104G |
probably damaging |
Het |
Uba7 |
A |
G |
9: 107,860,538 (GRCm39) |
K927R |
probably benign |
Het |
Vps54 |
T |
G |
11: 21,221,720 (GRCm39) |
D158E |
probably benign |
Het |
Xpnpep1 |
C |
T |
19: 53,000,196 (GRCm39) |
|
probably null |
Het |
Xpo7 |
G |
A |
14: 70,942,146 (GRCm39) |
R73W |
probably damaging |
Het |
Zfp532 |
A |
T |
18: 65,815,969 (GRCm39) |
M781L |
probably benign |
Het |
Zfp930 |
T |
A |
8: 69,681,193 (GRCm39) |
I295K |
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 |
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 |
|
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'- ACCCCTCAAGGTTTCATCAC -3'
(R):5'- CCCATCAGAACAGATGTGGAAG -3'
Sequencing Primer
(F):5'- CCTCAAGGTTTCATCACAGTTTG -3'
(R):5'- AAGGGTGGGTAGGATGCCTG -3'
|
Posted On |
2019-05-15 |