Incidental Mutation 'R7897:Fam184a'
| ID |
609759 |
| 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 |
045949-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R7897 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 53509802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 126
(E126*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000075540]
[ENSMUST00000163761]
[ENSMUST00000164393]
[ENSMUST00000169866]
[ENSMUST00000171807]
[ENSMUST00000217939]
[ENSMUST00000218659]
[ENSMUST00000218682]
[ENSMUST00000219838]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: Q1120H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: Q1120H
| 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: ENSMUST00000075540
|
| SMART Domains |
Protein: ENSMUSP00000074978
Gene: ENSMUSG00000058298
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
62 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
81 |
111 |
N/A |
INTRINSIC |
|
MCM
|
268 |
761 |
9.44e-116 |
SMART |
|
AAA
|
500 |
649 |
2.43e-6 |
SMART |
|
coiled coil region
|
789 |
817 |
N/A |
INTRINSIC |
|
low complexity region
|
884 |
895 |
N/A |
INTRINSIC |
|
low complexity region
|
1004 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1045 |
1056 |
N/A |
INTRINSIC |
|
low complexity region
|
1199 |
1216 |
N/A |
INTRINSIC |
|
low complexity region
|
1219 |
1232 |
N/A |
INTRINSIC |
|
low complexity region
|
1246 |
1255 |
N/A |
INTRINSIC |
|
low complexity region
|
1262 |
1276 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000163761
AA Change: Q980H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: Q980H
| 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 damaging
Transcript: ENSMUST00000164393
AA Change: Q46H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165986
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
| 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 |
probably benign
Transcript: ENSMUST00000169866
AA Change: R142I
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856
AA Change: R142I
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
41 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171807
AA Change: Q667H
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: Q667H
| 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 null
Transcript: ENSMUST00000217939
AA Change: E126*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218549
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218659
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218682
|
| Predicted Effect |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219838
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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 |
|---|
| Abcb11 |
TGTTGATCCATA |
T |
2: 69,154,216 (GRCm39) |
|
probably null |
Het |
| Abcb11 |
GTTGATCCATACA |
G |
2: 69,154,217 (GRCm39) |
|
probably benign |
Het |
| Abcc10 |
T |
C |
17: 46,634,999 (GRCm39) |
T335A |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,036,657 (GRCm39) |
Y245H |
probably benign |
Het |
| Afm |
G |
A |
5: 90,695,727 (GRCm39) |
M411I |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,554,169 (GRCm39) |
N650S |
possibly damaging |
Het |
| Ap5m1 |
A |
G |
14: 49,311,232 (GRCm39) |
R101G |
probably benign |
Het |
| Armcx5 |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
X: 134,646,453 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,215,284 (GRCm39) |
Q1151R |
|
Het |
| Bcl9 |
A |
G |
3: 97,112,567 (GRCm39) |
V1296A |
possibly damaging |
Het |
| Bsn |
A |
C |
9: 107,989,065 (GRCm39) |
M2229R |
probably damaging |
Het |
| Cfap74 |
T |
C |
4: 155,514,351 (GRCm39) |
V529A |
|
Het |
| Clip1 |
C |
T |
5: 123,760,861 (GRCm39) |
V767M |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,766,382 (GRCm39) |
I1846T |
possibly damaging |
Het |
| Crisp1 |
A |
T |
17: 40,618,656 (GRCm39) |
D68E |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 17,584,935 (GRCm39) |
L19Q |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,968,931 (GRCm39) |
I892T |
probably benign |
Het |
| Efcab3 |
A |
T |
11: 104,889,061 (GRCm39) |
Y4159F |
probably benign |
Het |
| Elavl3 |
G |
A |
9: 21,929,846 (GRCm39) |
R353C |
probably damaging |
Het |
| Fbxo3 |
A |
G |
2: 103,883,757 (GRCm39) |
D327G |
possibly damaging |
Het |
| Galr1 |
T |
C |
18: 82,424,256 (GRCm39) |
N7S |
probably benign |
Het |
| Glyatl3 |
T |
C |
17: 41,215,802 (GRCm39) |
T235A |
probably damaging |
Het |
| Gm5145 |
A |
C |
17: 20,790,967 (GRCm39) |
Q115P |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,780,069 (GRCm39) |
S1202P |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Jmjd1c |
A |
G |
10: 67,075,644 (GRCm39) |
N1837S |
probably damaging |
Het |
| Jph3 |
A |
T |
8: 122,516,136 (GRCm39) |
|
probably null |
Het |
| Kcna6 |
A |
G |
6: 126,715,761 (GRCm39) |
L376P |
probably damaging |
Het |
| Kcne3 |
C |
G |
7: 99,833,520 (GRCm39) |
R46G |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,722,934 (GRCm39) |
D842G |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,386,219 (GRCm39) |
I4F |
probably benign |
Het |
| Kpna1 |
T |
A |
16: 35,854,235 (GRCm39) |
I525N |
probably benign |
Het |
| Krtap31-1 |
T |
C |
11: 99,798,949 (GRCm39) |
C51R |
possibly damaging |
Het |
| Ms4a12 |
C |
T |
19: 11,207,723 (GRCm39) |
G61D |
possibly damaging |
Het |
| Nol4 |
T |
C |
18: 22,956,400 (GRCm39) |
N115D |
|
Het |
| Nudt16l2 |
A |
C |
9: 105,021,709 (GRCm39) |
Y112* |
probably null |
Het |
| Pcdh15 |
A |
G |
10: 74,289,827 (GRCm39) |
Y882C |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,244,202 (GRCm39) |
H79L |
probably benign |
Het |
| Pdia2 |
T |
C |
17: 26,417,207 (GRCm39) |
E79G |
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,590,167 (GRCm39) |
F90L |
probably damaging |
Het |
| Pik3cd |
T |
A |
4: 149,741,726 (GRCm39) |
T407S |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,724,827 (GRCm39) |
F2361L |
possibly damaging |
Het |
| Pla2g12b |
A |
T |
10: 59,246,816 (GRCm39) |
R77* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,655,399 (GRCm39) |
Y322C |
probably damaging |
Het |
| Psg23 |
T |
C |
7: 18,341,108 (GRCm39) |
Q382R |
possibly damaging |
Het |
| Ptprq |
A |
G |
10: 107,546,484 (GRCm39) |
V270A |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,695,838 (GRCm39) |
E1431G |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,764,027 (GRCm39) |
I253T |
possibly damaging |
Het |
| Sox9 |
A |
C |
11: 112,675,635 (GRCm39) |
I275L |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,758,058 (GRCm39) |
I284V |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,171,860 (GRCm39) |
D896G |
unknown |
Het |
| Usp48 |
A |
T |
4: 137,371,739 (GRCm39) |
H955L |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,213,307 (GRCm39) |
I30T |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,366,096 (GRCm39) |
R59* |
probably null |
Het |
| Zmym4 |
A |
T |
4: 126,783,332 (GRCm39) |
D1169E |
possibly damaging |
Het |
| Zscan2 |
T |
A |
7: 80,525,448 (GRCm39) |
Y390N |
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 |
|
|
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'- AAATCGGAGAGACAAACACTTTCTC -3'
(R):5'- TGTCACAGAGTTCATGTGAGCTG -3'
Sequencing Primer
(F):5'- GACAAACACTTTCTCATTCACAGTG -3'
(R):5'- ATGTGAGCTGCCACTGGAACTC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation