Incidental Mutation 'R7970:Fam184a'
| ID |
650566 |
| 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 |
046013-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R7970 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53575421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 63
(T63A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: T63A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: T63A
| 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 damaging
Transcript: ENSMUST00000163761
AA Change: T7A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: T7A
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.1429 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,449,266 (GRCm39) |
F167L |
probably damaging |
Het |
| Acsbg2 |
A |
G |
17: 57,156,728 (GRCm39) |
Y437H |
probably benign |
Het |
| Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,163,299 (GRCm39) |
S179P |
possibly damaging |
Het |
| Aopep |
A |
G |
13: 63,180,974 (GRCm39) |
N312S |
probably benign |
Het |
| Arhgef1 |
G |
A |
7: 24,616,306 (GRCm39) |
D317N |
probably damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,390,820 (GRCm39) |
P307S |
probably damaging |
Het |
| B3gnt2 |
T |
C |
11: 22,786,255 (GRCm39) |
Y311C |
probably damaging |
Het |
| Brf1 |
T |
C |
12: 112,927,820 (GRCm39) |
D453G |
probably damaging |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Dao |
AGG |
AG |
5: 114,153,270 (GRCm39) |
|
probably benign |
Het |
| Dst |
G |
T |
1: 34,221,828 (GRCm39) |
C2544F |
possibly damaging |
Het |
| Efhc1 |
C |
T |
1: 21,022,019 (GRCm39) |
T21M |
probably benign |
Het |
| Efs |
A |
G |
14: 55,157,960 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,771,466 (GRCm39) |
Y944N |
probably damaging |
Het |
| Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
| Fam171a2 |
A |
T |
11: 102,328,692 (GRCm39) |
V689E |
possibly damaging |
Het |
| Fam186a |
T |
C |
15: 99,831,467 (GRCm39) |
D2897G |
unknown |
Het |
| Fbxw11 |
T |
G |
11: 32,672,101 (GRCm39) |
S224A |
probably benign |
Het |
| Flnc |
G |
T |
6: 29,447,525 (GRCm39) |
E1109D |
possibly damaging |
Het |
| Foxn4 |
A |
G |
5: 114,401,068 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
G |
8: 36,282,801 (GRCm39) |
E2009G |
probably benign |
Het |
| Gm9958 |
A |
G |
5: 90,515,568 (GRCm39) |
|
probably benign |
Het |
| Gprin3 |
C |
T |
6: 59,330,150 (GRCm39) |
R719Q |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,763,513 (GRCm39) |
I147N |
probably benign |
Het |
| H2-DMb2 |
A |
G |
17: 34,369,572 (GRCm39) |
R239G |
probably benign |
Het |
| Hydin |
A |
C |
8: 111,035,723 (GRCm39) |
D138A |
probably damaging |
Het |
| Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
| Lgr6 |
A |
G |
1: 134,921,723 (GRCm39) |
I484T |
probably benign |
Het |
| Mkrn2 |
T |
A |
6: 115,594,269 (GRCm39) |
C327S |
probably damaging |
Het |
| Mnt |
C |
T |
11: 74,733,036 (GRCm39) |
A288V |
probably damaging |
Het |
| Nckap5 |
T |
A |
1: 125,952,758 (GRCm39) |
K1265* |
probably null |
Het |
| Ncoa3 |
A |
T |
2: 165,893,277 (GRCm39) |
H194L |
probably benign |
Het |
| Ogn |
A |
T |
13: 49,762,742 (GRCm39) |
H28L |
probably benign |
Het |
| Or56a41 |
C |
A |
7: 104,740,556 (GRCm39) |
V97L |
probably benign |
Het |
| Or5b101 |
T |
A |
19: 13,005,058 (GRCm39) |
I212F |
probably damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,169 (GRCm39) |
F309I |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,492 (GRCm39) |
S1037P |
|
Het |
| Phlpp1 |
T |
A |
1: 106,101,015 (GRCm39) |
Y428N |
probably damaging |
Het |
| Ptpre |
A |
G |
7: 135,280,048 (GRCm39) |
T591A |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,355,648 (GRCm39) |
D99E |
probably benign |
Het |
| Scn7a |
A |
T |
2: 66,506,173 (GRCm39) |
I1572N |
probably damaging |
Het |
| Sema3a |
T |
A |
5: 13,649,375 (GRCm39) |
M708K |
possibly damaging |
Het |
| Slc12a4 |
G |
A |
8: 106,678,237 (GRCm39) |
R319W |
possibly damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,374 (GRCm39) |
Y255H |
probably damaging |
Het |
| Spock3 |
T |
C |
8: 63,798,749 (GRCm39) |
F254L |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| St6galnac2 |
T |
C |
11: 116,581,169 (GRCm39) |
D51G |
probably benign |
Het |
| Stard13 |
T |
A |
5: 150,986,726 (GRCm39) |
K261N |
possibly damaging |
Het |
| Tlk1 |
T |
C |
2: 70,582,644 (GRCm39) |
R162G |
possibly damaging |
Het |
| Tlr2 |
T |
C |
3: 83,745,201 (GRCm39) |
D294G |
probably benign |
Het |
| Tnks |
A |
G |
8: 35,323,080 (GRCm39) |
|
probably null |
Het |
| Trip4 |
A |
G |
9: 65,746,298 (GRCm39) |
S533P |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,258,223 (GRCm39) |
W1674R |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,343,651 (GRCm39) |
S221N |
probably benign |
Het |
| Vmn2r114 |
T |
C |
17: 23,530,186 (GRCm39) |
N74D |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,343,330 (GRCm39) |
Y570H |
possibly 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 |
|
R1831:Fam184a
|
UTSW |
10 |
53,523,180 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- AAACTCGGTCAAAGCCTCCTG -3'
(R):5'- GCAAAGTAAATCAGTCTGTAGGCAC -3'
Sequencing Primer
(F):5'- TTCATGTGATCTTCTAAAGACGCTTC -3'
(R):5'- GATGTAAAAGAATATGTGCTGAA -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation