Incidental Mutation 'R7726:Fam184a'
| ID |
595505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184a
|
| Ensembl Gene |
ENSMUSG00000019856 |
| Gene Name |
family with sequence similarity 184, member A |
| Synonyms |
4930438C08Rik, 4930589M24Rik, 3110012E06Rik |
| MMRRC Submission |
045782-MU
|
| Accession Numbers |
Genbank: NM_001081428; MGI: 1923156 |
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53633145-53751123 bp(-) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 53633706 bp (GRCm38)
|
| 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: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931408C20Rik |
C |
A |
1: 26,684,498 (GRCm38) |
A534S |
probably benign |
Het |
| A230050P20Rik |
T |
C |
9: 20,873,165 (GRCm38) |
Y182H |
possibly damaging |
Het |
| Adam34 |
T |
G |
8: 43,651,171 (GRCm38) |
N479T |
probably damaging |
Het |
| Add3 |
C |
G |
19: 53,239,461 (GRCm38) |
L526V |
probably damaging |
Het |
| Alas1 |
T |
C |
9: 106,246,951 (GRCm38) |
T3A |
probably benign |
Het |
| Arap3 |
C |
T |
18: 37,989,467 (GRCm38) |
D579N |
probably damaging |
Het |
| Armc6 |
C |
A |
8: 70,222,598 (GRCm38) |
D326Y |
probably damaging |
Het |
| Atp6v1e2 |
G |
A |
17: 86,944,385 (GRCm38) |
T195I |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,702,072 (GRCm38) |
E904G |
probably damaging |
Het |
| Bhlhe40 |
T |
A |
6: 108,662,598 (GRCm38) |
D112E |
probably benign |
Het |
| Brf1 |
T |
G |
12: 112,964,245 (GRCm38) |
K438T |
probably benign |
Het |
| Cabs1 |
A |
T |
5: 87,980,286 (GRCm38) |
E265D |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,553,075 (GRCm38) |
M1937L |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,411,493 (GRCm38) |
S299R |
possibly damaging |
Het |
| Chordc1 |
A |
G |
9: 18,302,214 (GRCm38) |
*120W |
probably null |
Het |
| Col17a1 |
C |
A |
19: 47,655,190 (GRCm38) |
|
probably null |
Het |
| Cpne8 |
A |
T |
15: 90,501,418 (GRCm38) |
I469K |
possibly damaging |
Het |
| Crtac1 |
G |
T |
19: 42,302,251 (GRCm38) |
S337* |
probably null |
Het |
| Cx3cl1 |
T |
C |
8: 94,780,239 (GRCm38) |
S291P |
probably damaging |
Het |
| Dhx36 |
G |
T |
3: 62,488,968 (GRCm38) |
Q423K |
probably benign |
Het |
| Eif3h |
G |
T |
15: 51,786,823 (GRCm38) |
Q322K |
possibly damaging |
Het |
| Ero1lb |
A |
G |
13: 12,605,833 (GRCm38) |
*494W |
probably null |
Het |
| Exph5 |
G |
A |
9: 53,373,175 (GRCm38) |
V519I |
possibly damaging |
Het |
| Fam208a |
C |
A |
14: 27,447,497 (GRCm38) |
N338K |
probably damaging |
Het |
| Fam222b |
A |
G |
11: 78,153,751 (GRCm38) |
D46G |
probably damaging |
Het |
| Fbxl6 |
C |
A |
15: 76,535,886 (GRCm38) |
R509L |
probably damaging |
Het |
| Fgf14 |
T |
C |
14: 124,136,244 (GRCm38) |
Y86C |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,712,451 (GRCm38) |
I2119F |
probably benign |
Het |
| Gm14085 |
A |
G |
2: 122,486,733 (GRCm38) |
E25G |
probably damaging |
Het |
| Gpr37 |
G |
A |
6: 25,669,117 (GRCm38) |
T576I |
possibly damaging |
Het |
| Hnrnpul2 |
G |
T |
19: 8,831,280 (GRCm38) |
R702L |
possibly damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,757,456 (GRCm38) |
N342S |
probably benign |
Het |
| Kcnh6 |
T |
C |
11: 106,017,575 (GRCm38) |
V339A |
probably benign |
Het |
| Klk1b9 |
A |
T |
7: 43,978,416 (GRCm38) |
N46I |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,939,838 (GRCm38) |
S1703R |
possibly damaging |
Het |
| Lyn |
C |
A |
4: 3,756,428 (GRCm38) |
Y306* |
probably null |
Het |
| Manba |
C |
T |
3: 135,518,009 (GRCm38) |
T219M |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,140,795 (GRCm38) |
|
probably null |
Het |
| Med15 |
T |
G |
16: 17,655,174 (GRCm38) |
M550L |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,337,282 (GRCm38) |
|
probably null |
Het |
| Mettl11b |
A |
G |
1: 163,703,184 (GRCm38) |
C229R |
probably benign |
Het |
| Msh4 |
C |
T |
3: 153,866,320 (GRCm38) |
|
probably null |
Het |
| Myh6 |
G |
T |
14: 54,965,365 (GRCm38) |
D32E |
probably damaging |
Het |
| Ntn4 |
A |
G |
10: 93,733,682 (GRCm38) |
D419G |
possibly damaging |
Het |
| Nup155 |
C |
T |
15: 8,122,139 (GRCm38) |
P393S |
probably damaging |
Het |
| Olfr1389 |
T |
A |
11: 49,430,900 (GRCm38) |
C141* |
probably null |
Het |
| Olfr1415 |
A |
T |
1: 92,491,307 (GRCm38) |
F149L |
probably benign |
Het |
| Palm2 |
C |
T |
4: 57,709,876 (GRCm38) |
P274S |
probably damaging |
Het |
| Papss2 |
A |
T |
19: 32,634,003 (GRCm38) |
|
probably null |
Het |
| Pcdhgc3 |
T |
C |
18: 37,806,879 (GRCm38) |
V111A |
possibly damaging |
Het |
| Pcnx2 |
C |
T |
8: 125,850,330 (GRCm38) |
V988I |
probably benign |
Het |
| Pom121 |
C |
T |
5: 135,378,148 (GRCm38) |
G1178S |
probably damaging |
Het |
| Prss33 |
A |
G |
17: 23,834,229 (GRCm38) |
C213R |
probably damaging |
Het |
| Scap |
G |
A |
9: 110,378,367 (GRCm38) |
|
probably null |
Het |
| Sirpb1c |
T |
A |
3: 15,848,386 (GRCm38) |
I10F |
possibly damaging |
Het |
| Spink5 |
T |
C |
18: 43,963,352 (GRCm38) |
L16P |
probably damaging |
Het |
| Stk4 |
T |
G |
2: 164,110,226 (GRCm38) |
M1R |
probably null |
Het |
| Stub1 |
A |
T |
17: 25,831,132 (GRCm38) |
Y253* |
probably null |
Het |
| Tbce |
A |
G |
13: 14,029,290 (GRCm38) |
V29A |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,471,758 (GRCm38) |
R590G |
probably benign |
Het |
| Tmem173 |
C |
T |
18: 35,735,265 (GRCm38) |
A261T |
probably damaging |
Het |
| Ubr4 |
C |
T |
4: 139,458,920 (GRCm38) |
P613L |
unknown |
Het |
| Vmn2r3 |
G |
T |
3: 64,275,518 (GRCm38) |
C253* |
probably null |
Het |
| Wfdc8 |
C |
A |
2: 164,599,986 (GRCm38) |
E215D |
possibly damaging |
Het |
| Zfp874b |
T |
C |
13: 67,473,856 (GRCm38) |
D441G |
probably benign |
Het |
| Zscan4d |
G |
T |
7: 11,165,242 (GRCm38) |
P36Q |
possibly damaging |
Het |
|
| Other mutations in Fam184a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Fam184a
|
APN |
10 |
53,694,686 (GRCm38) |
splice site |
probably benign |
|
|
IGL01448:Fam184a
|
APN |
10 |
53,698,949 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02052:Fam184a
|
APN |
10 |
53,697,120 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02086:Fam184a
|
APN |
10 |
53,699,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02163:Fam184a
|
APN |
10 |
53,647,134 (GRCm38) |
splice site |
probably null |
|
|
IGL02247:Fam184a
|
APN |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02316:Fam184a
|
APN |
10 |
53,638,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02493:Fam184a
|
APN |
10 |
53,694,693 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02629:Fam184a
|
APN |
10 |
53,698,811 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL03006:Fam184a
|
APN |
10 |
53,698,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
2107:Fam184a
|
UTSW |
10 |
53,641,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Fam184a
|
UTSW |
10 |
53,684,354 (GRCm38) |
nonsense |
probably null |
|
|
R0427:Fam184a
|
UTSW |
10 |
53,690,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0477:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0511:Fam184a
|
UTSW |
10 |
53,698,879 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1322:Fam184a
|
UTSW |
10 |
53,652,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Fam184a
|
UTSW |
10 |
53,675,208 (GRCm38) |
missense |
probably benign |
0.29 |
|
R1474:Fam184a
|
UTSW |
10 |
53,635,365 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1752:Fam184a
|
UTSW |
10 |
53,674,570 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1831:Fam184a
|
UTSW |
10 |
53,647,084 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2186:Fam184a
|
UTSW |
10 |
53,638,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2202:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2203:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2221:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2223:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2261:Fam184a
|
UTSW |
10 |
53,647,570 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2444:Fam184a
|
UTSW |
10 |
53,640,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3876:Fam184a
|
UTSW |
10 |
53,699,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Fam184a
|
UTSW |
10 |
53,699,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4685:Fam184a
|
UTSW |
10 |
53,698,500 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4953:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5056:Fam184a
|
UTSW |
10 |
53,674,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5420:Fam184a
|
UTSW |
10 |
53,633,657 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6159:Fam184a
|
UTSW |
10 |
53,698,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6554:Fam184a
|
UTSW |
10 |
53,640,967 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6714:Fam184a
|
UTSW |
10 |
53,698,883 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6966:Fam184a
|
UTSW |
10 |
53,654,999 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7034:Fam184a
|
UTSW |
10 |
53,694,814 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7237:Fam184a
|
UTSW |
10 |
53,634,393 (GRCm38) |
unclassified |
probably benign |
|
|
R7253:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7359:Fam184a
|
UTSW |
10 |
53,699,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7449:Fam184a
|
UTSW |
10 |
53,698,634 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7479:Fam184a
|
UTSW |
10 |
53,655,014 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7725:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7881:Fam184a
|
UTSW |
10 |
53,698,493 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7886:Fam184a
|
UTSW |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7896:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7897:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7937:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7943:Fam184a
|
UTSW |
10 |
53,647,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7943:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7970:Fam184a
|
UTSW |
10 |
53,699,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7972:Fam184a
|
UTSW |
10 |
53,638,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8049:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R9070:Fam184a
|
UTSW |
10 |
53,638,277 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9134:Fam184a
|
UTSW |
10 |
53,697,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9373:Fam184a
|
UTSW |
10 |
53,690,019 (GRCm38) |
missense |
probably benign |
|
|
R9614:Fam184a
|
UTSW |
10 |
53,641,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9644:Fam184a
|
UTSW |
10 |
53,697,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9706:Fam184a
|
UTSW |
10 |
53,699,153 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9787:Fam184a
|
UTSW |
10 |
53,750,768 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Fam184a
|
UTSW |
10 |
53,699,086 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATTTTCAAATCGGAGAGACAAAC -3'
(R):5'- CAGAGTTCATGTGAGCTGCC -3'
Sequencing Primer
(F):5'- TCGGAGAGACAAACACTTTCTCATTC -3'
(R):5'- ATGTGAGCTGCCACTGGAACTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation