Incidental Mutation 'R9787:Fam184a'
| ID |
734408 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R9787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 53626864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 38
(D38V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020003
AA Change: D38V
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: D38V
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
| Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
| Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
| Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
| Chst13 |
C |
T |
6: 90,286,074 (GRCm39) |
R296H |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
| Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
| Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
| Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,703,211 (GRCm39) |
H11Q |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
| Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
| Mbnl1 |
T |
A |
3: 60,503,086 (GRCm39) |
N82K |
probably damaging |
Het |
| Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
| Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,223 (GRCm39) |
D157E |
probably benign |
Het |
| Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
| Sugp2 |
A |
G |
8: 70,695,428 (GRCm39) |
K134E |
probably benign |
Het |
| Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
| Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
| Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
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 |
|
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 |
|
|
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 |
|
Z1177:Fam184a
|
UTSW |
10 |
53,575,182 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAGTTAGGTGGCTAGC -3'
(R):5'- GCTGAGAAGCTGCAAACTGG -3'
Sequencing Primer
(F):5'- AGCGTTCCACCCAAGTTTG -3'
(R):5'- TCCTGGTAACGGCGCTC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation