Incidental Mutation 'R1831:Fam184a'
| ID |
207340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184a
|
| Ensembl Gene |
ENSMUSG00000019856 |
| Gene Name |
family with sequence similarity 184, member A |
| Synonyms |
3110012E06Rik, 4930589M24Rik, 4930438C08Rik |
| MMRRC Submission |
039858-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R1831 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53523180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 164
(D164E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151350
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000169866]
[ENSMUST00000171807]
[ENSMUST00000217939]
[ENSMUST00000218682]
[ENSMUST00000218659]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020003
AA Change: D941E
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: D941E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM184
|
57 |
267 |
1.5e-84 |
PFAM |
|
low complexity region
|
436 |
449 |
N/A |
INTRINSIC |
|
Blast:HisKA
|
533 |
598 |
4e-6 |
BLAST |
|
coiled coil region
|
656 |
788 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
795 |
864 |
2.49e-6 |
PROSPERO |
|
internal_repeat_1
|
800 |
866 |
4.75e-7 |
PROSPERO |
|
coiled coil region
|
960 |
983 |
N/A |
INTRINSIC |
|
low complexity region
|
1101 |
1113 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163761
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
4 |
88 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
99 |
167 |
6.86e-8 |
PROSPERO |
|
internal_repeat_2
|
105 |
173 |
4e-7 |
PROSPERO |
|
low complexity region
|
380 |
393 |
N/A |
INTRINSIC |
|
Blast:HisKA
|
480 |
542 |
5e-6 |
BLAST |
|
coiled coil region
|
600 |
732 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
739 |
808 |
4e-7 |
PROSPERO |
|
internal_repeat_1
|
744 |
810 |
6.86e-8 |
PROSPERO |
|
low complexity region
|
906 |
916 |
N/A |
INTRINSIC |
|
low complexity region
|
961 |
973 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000165986
AA Change: D193E
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: D193E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
40 |
N/A |
INTRINSIC |
|
coiled coil region
|
102 |
166 |
N/A |
INTRINSIC |
|
coiled coil region
|
212 |
235 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
366 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169866
|
| SMART Domains |
Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
41 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171807
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
45 |
N/A |
INTRINSIC |
|
Pfam:DUF3090
|
64 |
159 |
5.9e-8 |
PFAM |
|
low complexity region
|
303 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
364 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
383 |
410 |
4.35e-5 |
PROSPERO |
|
internal_repeat_1
|
424 |
451 |
4.35e-5 |
PROSPERO |
|
low complexity region
|
648 |
660 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217939
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218682
AA Change: D338E
PolyPhen 2
Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218659
AA Change: D164E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218780
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
G |
5: 3,627,255 (GRCm39) |
D77G |
probably damaging |
Het |
| Adam1b |
A |
G |
5: 121,641,000 (GRCm39) |
I15T |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,275,115 (GRCm39) |
I312M |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,438,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
A |
T |
13: 24,348,862 (GRCm39) |
V15E |
probably benign |
Het |
| Ccdc42 |
T |
A |
11: 68,481,805 (GRCm39) |
M133K |
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,696,933 (GRCm39) |
D485G |
probably damaging |
Het |
| Cdhr18 |
A |
G |
14: 13,899,619 (GRCm38) |
I101T |
probably damaging |
Het |
| Cep104 |
T |
A |
4: 154,087,003 (GRCm39) |
V842E |
probably benign |
Het |
| Cep162 |
T |
A |
9: 87,088,985 (GRCm39) |
I966L |
probably damaging |
Het |
| Cklf |
T |
C |
8: 104,977,687 (GRCm39) |
F13S |
probably damaging |
Het |
| Csf2rb |
C |
T |
15: 78,232,453 (GRCm39) |
P587S |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,023,009 (GRCm39) |
|
probably benign |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,071 (GRCm39) |
L335F |
probably damaging |
Het |
| Dcst1 |
A |
G |
3: 89,260,057 (GRCm39) |
F596L |
probably damaging |
Het |
| Dennd6a |
T |
A |
14: 26,328,109 (GRCm39) |
L44H |
probably damaging |
Het |
| Dnah6 |
G |
A |
6: 73,158,780 (GRCm39) |
R608C |
possibly damaging |
Het |
| Dnajb5 |
A |
T |
4: 42,957,333 (GRCm39) |
T311S |
probably benign |
Het |
| Dthd1 |
A |
G |
5: 62,984,572 (GRCm39) |
T426A |
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,580,493 (GRCm39) |
K118R |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,871,442 (GRCm39) |
D347V |
possibly damaging |
Het |
| Ephb4 |
T |
A |
5: 137,352,677 (GRCm39) |
Y87N |
probably damaging |
Het |
| Ern1 |
A |
T |
11: 106,290,668 (GRCm39) |
|
probably null |
Het |
| Fkbp10 |
A |
G |
11: 100,314,045 (GRCm39) |
E351G |
probably damaging |
Het |
| Fmn2 |
A |
G |
1: 174,437,511 (GRCm39) |
S1161G |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,939,074 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gpr3 |
C |
T |
4: 132,938,454 (GRCm39) |
A73T |
possibly damaging |
Het |
| Gprc6a |
T |
C |
10: 51,491,902 (GRCm39) |
T616A |
probably benign |
Het |
| Gtf3c2 |
G |
T |
5: 31,325,713 (GRCm39) |
Q452K |
probably damaging |
Het |
| H2-Q7 |
C |
A |
17: 35,658,675 (GRCm39) |
S104R |
probably benign |
Het |
| Hacd2 |
T |
C |
16: 34,922,434 (GRCm39) |
Y208H |
probably damaging |
Het |
| Hid1 |
C |
T |
11: 115,239,729 (GRCm39) |
G734R |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,559,992 (GRCm39) |
I160T |
unknown |
Het |
| Itga11 |
T |
A |
9: 62,689,300 (GRCm39) |
L1155Q |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,224 (GRCm39) |
S157P |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,187 (GRCm39) |
T793A |
probably damaging |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Ltn1 |
C |
T |
16: 87,197,034 (GRCm39) |
S1213N |
possibly damaging |
Het |
| Meak7 |
T |
C |
8: 120,497,992 (GRCm39) |
M171V |
probably null |
Het |
| Med1 |
T |
C |
11: 98,047,437 (GRCm39) |
|
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,355,134 (GRCm39) |
T1483M |
probably benign |
Het |
| Micall2 |
A |
G |
5: 139,702,508 (GRCm39) |
V245A |
probably benign |
Het |
| Mipep |
T |
G |
14: 61,109,512 (GRCm39) |
Y630D |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,395,127 (GRCm39) |
H501L |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,842,789 (GRCm38) |
M165L |
probably benign |
Het |
| Nmbr |
C |
A |
10: 14,642,609 (GRCm39) |
T56K |
probably benign |
Het |
| Nxpe2 |
T |
A |
9: 48,237,452 (GRCm39) |
M268L |
probably benign |
Het |
| Oasl2 |
A |
G |
5: 115,039,367 (GRCm39) |
Y185C |
probably benign |
Het |
| Ogdhl |
T |
A |
14: 32,059,484 (GRCm39) |
V377E |
probably damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,658 (GRCm39) |
|
probably null |
Het |
| Or14j4 |
G |
A |
17: 37,920,730 (GRCm39) |
S304L |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,892,384 (GRCm39) |
R346G |
probably benign |
Het |
| Parp14 |
T |
A |
16: 35,678,958 (GRCm39) |
N337Y |
possibly damaging |
Het |
| Pask |
A |
C |
1: 93,248,491 (GRCm39) |
|
probably null |
Het |
| Pax3 |
G |
T |
1: 78,108,977 (GRCm39) |
T227K |
probably damaging |
Het |
| Pik3r6 |
T |
A |
11: 68,434,860 (GRCm39) |
M594K |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,370 (GRCm39) |
F390L |
probably benign |
Het |
| Polg |
G |
A |
7: 79,109,518 (GRCm39) |
T433I |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,427,021 (GRCm39) |
Y898C |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,315,044 (GRCm39) |
C1921* |
probably null |
Het |
| Rif1 |
T |
A |
2: 51,968,507 (GRCm39) |
L230* |
probably null |
Het |
| Rnf148 |
A |
G |
6: 23,654,772 (GRCm39) |
F75L |
probably damaging |
Het |
| Rps18-ps6 |
A |
G |
13: 97,897,053 (GRCm39) |
V15A |
probably benign |
Het |
| Sclt1 |
A |
G |
3: 41,681,546 (GRCm39) |
V91A |
probably damaging |
Het |
| Sirt1 |
T |
C |
10: 63,156,425 (GRCm39) |
D735G |
probably benign |
Het |
| Spag5 |
T |
A |
11: 78,205,082 (GRCm39) |
N622K |
probably benign |
Het |
| Sspo |
T |
G |
6: 48,466,720 (GRCm39) |
C3935W |
probably damaging |
Het |
| Strbp |
A |
G |
2: 37,515,277 (GRCm39) |
S250P |
possibly damaging |
Het |
| Tgfbr2 |
T |
C |
9: 115,919,604 (GRCm39) |
T541A |
possibly damaging |
Het |
| Thada |
A |
C |
17: 84,538,542 (GRCm39) |
S1489A |
probably damaging |
Het |
| Tiam1 |
A |
T |
16: 89,657,182 (GRCm39) |
S685T |
probably benign |
Het |
| Tpsb2 |
T |
A |
17: 25,585,494 (GRCm39) |
|
probably null |
Het |
| Trip4 |
C |
A |
9: 65,765,622 (GRCm39) |
G359V |
probably damaging |
Het |
| Tsr1 |
T |
C |
11: 74,791,182 (GRCm39) |
F254L |
probably benign |
Het |
| Vmn1r120 |
T |
C |
7: 20,787,556 (GRCm39) |
K52E |
probably benign |
Het |
| Vmn1r29 |
C |
A |
6: 58,284,692 (GRCm39) |
Y137* |
probably null |
Het |
| Vmn2r52 |
T |
C |
7: 9,893,415 (GRCm39) |
K575E |
probably damaging |
Het |
| Wdr95 |
A |
G |
5: 149,475,891 (GRCm39) |
Y63C |
probably damaging |
Het |
|
| Other mutations in Fam184a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Fam184a
|
APN |
10 |
53,570,782 (GRCm39) |
splice site |
probably benign |
|
|
IGL01448:Fam184a
|
APN |
10 |
53,575,045 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02052:Fam184a
|
APN |
10 |
53,573,216 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02086:Fam184a
|
APN |
10 |
53,575,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Fam184a
|
APN |
10 |
53,523,230 (GRCm39) |
splice site |
probably null |
|
|
IGL02247:Fam184a
|
APN |
10 |
53,551,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02316:Fam184a
|
APN |
10 |
53,514,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02493:Fam184a
|
APN |
10 |
53,570,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02629:Fam184a
|
APN |
10 |
53,574,907 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03006:Fam184a
|
APN |
10 |
53,574,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
2107:Fam184a
|
UTSW |
10 |
53,517,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Fam184a
|
UTSW |
10 |
53,560,450 (GRCm39) |
nonsense |
probably null |
|
|
R0427:Fam184a
|
UTSW |
10 |
53,566,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0477:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Fam184a
|
UTSW |
10 |
53,574,975 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1322:Fam184a
|
UTSW |
10 |
53,528,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Fam184a
|
UTSW |
10 |
53,551,304 (GRCm39) |
missense |
probably benign |
0.29 |
|
R1474:Fam184a
|
UTSW |
10 |
53,511,461 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1752:Fam184a
|
UTSW |
10 |
53,550,666 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2186:Fam184a
|
UTSW |
10 |
53,514,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2202:Fam184a
|
UTSW |
10 |
53,528,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2203:Fam184a
|
UTSW |
10 |
53,528,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2223:Fam184a
|
UTSW |
10 |
53,531,175 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Fam184a
|
UTSW |
10 |
53,523,666 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2444:Fam184a
|
UTSW |
10 |
53,517,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3876:Fam184a
|
UTSW |
10 |
53,575,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3932:Fam184a
|
UTSW |
10 |
53,575,397 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4685:Fam184a
|
UTSW |
10 |
53,574,596 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4953:Fam184a
|
UTSW |
10 |
53,574,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5056:Fam184a
|
UTSW |
10 |
53,550,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5420:Fam184a
|
UTSW |
10 |
53,509,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6159:Fam184a
|
UTSW |
10 |
53,574,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6554:Fam184a
|
UTSW |
10 |
53,517,063 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6714:Fam184a
|
UTSW |
10 |
53,574,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6966:Fam184a
|
UTSW |
10 |
53,531,095 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7034:Fam184a
|
UTSW |
10 |
53,570,910 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7237:Fam184a
|
UTSW |
10 |
53,510,489 (GRCm39) |
unclassified |
probably benign |
|
|
R7253:Fam184a
|
UTSW |
10 |
53,574,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7359:Fam184a
|
UTSW |
10 |
53,575,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Fam184a
|
UTSW |
10 |
53,574,730 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7479:Fam184a
|
UTSW |
10 |
53,531,110 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7725:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7726:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7881:Fam184a
|
UTSW |
10 |
53,574,589 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7886:Fam184a
|
UTSW |
10 |
53,551,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7896:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7897:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7937:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7943:Fam184a
|
UTSW |
10 |
53,523,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R7970:Fam184a
|
UTSW |
10 |
53,575,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7972:Fam184a
|
UTSW |
10 |
53,514,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8049:Fam184a
|
UTSW |
10 |
53,509,802 (GRCm39) |
nonsense |
probably null |
|
|
R9070:Fam184a
|
UTSW |
10 |
53,514,373 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9134:Fam184a
|
UTSW |
10 |
53,573,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:Fam184a
|
UTSW |
10 |
53,566,115 (GRCm39) |
missense |
probably benign |
|
|
R9614:Fam184a
|
UTSW |
10 |
53,517,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Fam184a
|
UTSW |
10 |
53,573,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9706:Fam184a
|
UTSW |
10 |
53,575,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9787:Fam184a
|
UTSW |
10 |
53,626,864 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Fam184a
|
UTSW |
10 |
53,575,182 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTGTGGCATCAAATGG -3'
(R):5'- GCAGTCCATAGCAAACTCCG -3'
Sequencing Primer
(F):5'- CAGTGGCCTTATCCTAATTAACG -3'
(R):5'- GTCCATAGCAAACTCCGTAGCTTATC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation