Incidental Mutation 'R7957:Fam193a'
| ID |
649882 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam193a
|
| Ensembl Gene |
ENSMUSG00000037210 |
| Gene Name |
family with sequence similarity 193, member A |
| Synonyms |
|
| MMRRC Submission |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R7957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
34369933-34486456 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34462086 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1031
(D1031G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094867]
[ENSMUST00000180376]
[ENSMUST00000181379]
|
| AlphaFold |
Q8CGI1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094867
AA Change: D745G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: D745G
| 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: D1031G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: D1031G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201005
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
All alleles(19) : Gene trapped(19)
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 110,091,613 (GRCm38) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 79,325,446 (GRCm38) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,212 (GRCm38) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,390,924 (GRCm38) |
T438A |
probably benign |
Het |
| Cebpa |
A |
G |
7: 35,120,442 (GRCm38) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,051,698 (GRCm38) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,658,222 (GRCm38) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,661,117 (GRCm38) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,774,051 (GRCm38) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,805,332 (GRCm38) |
R175H |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,491,985 (GRCm38) |
H612L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,410 (GRCm38) |
T149A |
probably damaging |
Het |
| Gm15922 |
C |
G |
7: 3,737,320 (GRCm38) |
A301P |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 6,872,332 (GRCm38) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,791,170 (GRCm38) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,487,470 (GRCm38) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,550,766 (GRCm38) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,524,618 (GRCm38) |
E356D |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,949,451 (GRCm38) |
E448G |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,436,250 (GRCm38) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,135,773 (GRCm38) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,643,471 (GRCm38) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,354,761 (GRCm38) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,979,799 (GRCm38) |
C189S |
probably damaging |
Het |
| Nov |
G |
T |
15: 54,746,338 (GRCm38) |
S78I |
possibly damaging |
Het |
| Ntn4 |
T |
C |
10: 93,644,473 (GRCm38) |
|
probably benign |
Het |
| Olfr1274-ps |
A |
T |
2: 90,401,051 (GRCm38) |
Y130F |
probably damaging |
Het |
| Olfr146 |
T |
G |
9: 39,019,053 (GRCm38) |
I163L |
probably benign |
Het |
| Olfr329-ps |
A |
G |
11: 58,542,798 (GRCm38) |
L239P |
probably damaging |
Het |
| Olfr358 |
A |
G |
2: 37,004,960 (GRCm38) |
I218T |
probably benign |
Het |
| Olfr399 |
A |
C |
11: 74,054,156 (GRCm38) |
L201R |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,813,696 (GRCm38) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,761,561 (GRCm38) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,903,884 (GRCm38) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,687,209 (GRCm38) |
D1334G |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,214,969 (GRCm38) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,210,523 (GRCm38) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,341,248 (GRCm38) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,956,787 (GRCm38) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 5,008,225 (GRCm38) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,414,950 (GRCm38) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,026,728 (GRCm38) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,616,690 (GRCm38) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,764,855 (GRCm38) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,708,864 (GRCm38) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,327,191 (GRCm38) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,413,132 (GRCm38) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,325,692 (GRCm38) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,732,492 (GRCm38) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 24,275,574 (GRCm38) |
L328P |
probably damaging |
Het |
|
| Other mutations in Fam193a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01981:Fam193a
|
APN |
5 |
34,431,193 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02111:Fam193a
|
APN |
5 |
34,410,657 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02139:Fam193a
|
APN |
5 |
34,444,737 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL02218:Fam193a
|
APN |
5 |
34,443,588 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
BB010:Fam193a
|
UTSW |
5 |
34,466,195 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
BB020:Fam193a
|
UTSW |
5 |
34,466,195 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
P0017:Fam193a
|
UTSW |
5 |
34,440,463 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4418001:Fam193a
|
UTSW |
5 |
34,440,535 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0172:Fam193a
|
UTSW |
5 |
34,465,613 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0413:Fam193a
|
UTSW |
5 |
34,466,208 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R0512:Fam193a
|
UTSW |
5 |
34,426,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0735:Fam193a
|
UTSW |
5 |
34,439,378 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R0764:Fam193a
|
UTSW |
5 |
34,443,341 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0904:Fam193a
|
UTSW |
5 |
34,462,143 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1756:Fam193a
|
UTSW |
5 |
34,466,292 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1765:Fam193a
|
UTSW |
5 |
34,436,497 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Fam193a
|
UTSW |
5 |
34,462,131 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1845:Fam193a
|
UTSW |
5 |
34,443,372 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2051:Fam193a
|
UTSW |
5 |
34,462,150 (GRCm38) |
missense |
probably benign |
0.19 |
|
R2483:Fam193a
|
UTSW |
5 |
34,465,758 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R3014:Fam193a
|
UTSW |
5 |
34,465,672 (GRCm38) |
missense |
probably benign |
0.33 |
|
R4523:Fam193a
|
UTSW |
5 |
34,443,371 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4723:Fam193a
|
UTSW |
5 |
34,420,786 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4823:Fam193a
|
UTSW |
5 |
34,459,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4826:Fam193a
|
UTSW |
5 |
34,436,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4863:Fam193a
|
UTSW |
5 |
34,466,205 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5331:Fam193a
|
UTSW |
5 |
34,465,571 (GRCm38) |
splice site |
probably null |
|
|
R5364:Fam193a
|
UTSW |
5 |
34,466,253 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5564:Fam193a
|
UTSW |
5 |
34,420,855 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5580:Fam193a
|
UTSW |
5 |
34,420,788 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5784:Fam193a
|
UTSW |
5 |
34,466,223 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5933:Fam193a
|
UTSW |
5 |
34,465,680 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5949:Fam193a
|
UTSW |
5 |
34,440,472 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R6106:Fam193a
|
UTSW |
5 |
34,459,030 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6181:Fam193a
|
UTSW |
5 |
34,443,540 (GRCm38) |
splice site |
probably null |
|
|
R7095:Fam193a
|
UTSW |
5 |
34,458,034 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7109:Fam193a
|
UTSW |
5 |
34,465,821 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7344:Fam193a
|
UTSW |
5 |
34,485,730 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7401:Fam193a
|
UTSW |
5 |
34,465,635 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7453:Fam193a
|
UTSW |
5 |
34,464,116 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7456:Fam193a
|
UTSW |
5 |
34,420,788 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7648:Fam193a
|
UTSW |
5 |
34,431,182 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7768:Fam193a
|
UTSW |
5 |
34,465,791 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R7783:Fam193a
|
UTSW |
5 |
34,431,180 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7818:Fam193a
|
UTSW |
5 |
34,465,653 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R7852:Fam193a
|
UTSW |
5 |
34,410,817 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7853:Fam193a
|
UTSW |
5 |
34,440,129 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7894:Fam193a
|
UTSW |
5 |
34,440,533 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7933:Fam193a
|
UTSW |
5 |
34,466,195 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8191:Fam193a
|
UTSW |
5 |
34,440,573 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8281:Fam193a
|
UTSW |
5 |
34,443,436 (GRCm38) |
missense |
unknown |
|
|
R8554:Fam193a
|
UTSW |
5 |
34,475,771 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8743:Fam193a
|
UTSW |
5 |
34,420,157 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8821:Fam193a
|
UTSW |
5 |
34,459,030 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8831:Fam193a
|
UTSW |
5 |
34,459,030 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8896:Fam193a
|
UTSW |
5 |
34,426,484 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8943:Fam193a
|
UTSW |
5 |
34,440,452 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9026:Fam193a
|
UTSW |
5 |
34,459,192 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9182:Fam193a
|
UTSW |
5 |
34,466,017 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9210:Fam193a
|
UTSW |
5 |
34,440,137 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9212:Fam193a
|
UTSW |
5 |
34,440,137 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9291:Fam193a
|
UTSW |
5 |
34,436,491 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9515:Fam193a
|
UTSW |
5 |
34,458,027 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
Z1088:Fam193a
|
UTSW |
5 |
34,420,895 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCCAGTCACTGTATTCTTG -3'
(R):5'- AGTCACACAACTGTCAGGTC -3'
Sequencing Primer
(F):5'- CCAGTCACTGTATTCTTGGCTGATG -3'
(R):5'- ACTGTCAGGTCATAATACCCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation