Incidental Mutation 'R6966:Fam184a'
| ID |
542008 |
| 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 |
045076-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R6966 (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 C
at 53531095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 760
(T760A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
[ENSMUST00000218659]
[ENSMUST00000218682]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020003
AA Change: T760A
PolyPhen 2
Score 0.340 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: T760A
| 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
AA Change: T704A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: T704A
| 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: T12A
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: T12A
| 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: ENSMUST00000171807
AA Change: T356A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: T356A
| 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 |
unknown
Transcript: ENSMUST00000218659
AA Change: D34G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218682
AA Change: T157A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26b |
G |
A |
8: 43,974,472 (GRCm39) |
R177C |
possibly damaging |
Het |
| Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
| Bahcc1 |
G |
A |
11: 120,173,985 (GRCm39) |
V1582M |
probably damaging |
Het |
| Baiap2 |
A |
T |
11: 119,897,231 (GRCm39) |
R529* |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,420,685 (GRCm39) |
Q1327* |
probably null |
Het |
| Brsk2 |
T |
A |
7: 141,538,270 (GRCm39) |
C139S |
possibly damaging |
Het |
| Catsper3 |
T |
A |
13: 55,946,672 (GRCm39) |
I123N |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,713,976 (GRCm39) |
N325D |
possibly damaging |
Het |
| Chid1 |
T |
A |
7: 141,076,297 (GRCm39) |
Y357F |
possibly damaging |
Het |
| Clstn2 |
A |
T |
9: 97,408,459 (GRCm39) |
Y416* |
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,451,160 (GRCm39) |
L2189Q |
probably damaging |
Het |
| Csnk2b |
T |
A |
17: 35,336,758 (GRCm39) |
I170L |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,631,977 (GRCm39) |
Q1326R |
probably damaging |
Het |
| Drd1 |
T |
C |
13: 54,207,564 (GRCm39) |
I210V |
probably damaging |
Het |
| Eef1d |
G |
T |
15: 75,775,558 (GRCm39) |
Q34K |
probably benign |
Het |
| Fnip1 |
G |
T |
11: 54,373,385 (GRCm39) |
V199F |
probably benign |
Het |
| Glyatl3 |
T |
C |
17: 41,215,829 (GRCm39) |
K226E |
probably damaging |
Het |
| Gm19410 |
C |
T |
8: 36,285,127 (GRCm39) |
T2093I |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,318,347 (GRCm39) |
E1206D |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,143,299 (GRCm39) |
W411* |
probably null |
Het |
| Hsf2 |
C |
A |
10: 57,372,080 (GRCm39) |
S60R |
probably damaging |
Het |
| Hyal5 |
C |
A |
6: 24,891,291 (GRCm39) |
N368K |
probably damaging |
Het |
| Itgb2l |
A |
T |
16: 96,231,843 (GRCm39) |
F308I |
probably benign |
Het |
| Kdm7a |
G |
A |
6: 39,129,773 (GRCm39) |
L468F |
probably damaging |
Het |
| Lamp3 |
A |
T |
16: 19,518,403 (GRCm39) |
L278* |
probably null |
Het |
| Ly6c1 |
A |
T |
15: 74,917,289 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
A |
G |
12: 111,606,458 (GRCm39) |
N524D |
probably damaging |
Het |
| Met |
T |
G |
6: 17,531,531 (GRCm39) |
L603R |
possibly damaging |
Het |
| Mical1 |
A |
T |
10: 41,355,750 (GRCm39) |
Q198L |
probably damaging |
Het |
| Nacad |
T |
A |
11: 6,552,634 (GRCm39) |
I186F |
possibly damaging |
Het |
| Nt5c3b |
A |
T |
11: 100,320,750 (GRCm39) |
M257K |
probably benign |
Het |
| Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
| Nub1 |
T |
A |
5: 24,894,470 (GRCm39) |
Y51N |
probably damaging |
Het |
| Nxpe5 |
T |
C |
5: 138,237,679 (GRCm39) |
S68P |
probably damaging |
Het |
| Or10ag58 |
C |
T |
2: 87,265,623 (GRCm39) |
T264I |
probably damaging |
Het |
| Or5d44 |
A |
G |
2: 88,141,835 (GRCm39) |
S102P |
probably benign |
Het |
| Or6c66 |
A |
G |
10: 129,461,633 (GRCm39) |
V99A |
probably benign |
Het |
| Pias3 |
A |
G |
3: 96,609,511 (GRCm39) |
D276G |
probably damaging |
Het |
| Setd7 |
A |
G |
3: 51,437,605 (GRCm39) |
Y217H |
probably damaging |
Het |
| Slc23a1 |
A |
T |
18: 35,758,114 (GRCm39) |
I142N |
probably damaging |
Het |
| Slx4ip |
T |
C |
2: 136,910,144 (GRCm39) |
S310P |
probably damaging |
Het |
| Tcp11l2 |
G |
A |
10: 84,427,133 (GRCm39) |
R199Q |
possibly damaging |
Het |
| Tgm4 |
T |
A |
9: 122,880,207 (GRCm39) |
D226E |
possibly damaging |
Het |
| Tspyl4 |
C |
A |
10: 34,173,673 (GRCm39) |
A55E |
probably benign |
Het |
| Uap1l1 |
A |
G |
2: 25,254,950 (GRCm39) |
I146T |
probably damaging |
Het |
| Ush2a |
G |
A |
1: 188,308,441 (GRCm39) |
G2030D |
probably damaging |
Het |
| Uts2r |
G |
A |
11: 121,052,213 (GRCm39) |
G359D |
possibly damaging |
Het |
| Vwa7 |
T |
C |
17: 35,236,072 (GRCm39) |
S9P |
probably benign |
Het |
| Zbtb16 |
A |
G |
9: 48,568,654 (GRCm39) |
C604R |
probably damaging |
Het |
| Zfp804b |
A |
G |
5: 6,821,615 (GRCm39) |
S483P |
probably damaging |
Het |
| Zfpm1 |
G |
A |
8: 123,058,904 (GRCm39) |
A175T |
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 |
|
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'- GCTGGTGATTCCTATTTCAACTAC -3'
(R):5'- AGTCTGTGAAACGTGCCTCG -3'
Sequencing Primer
(F):5'- GGTGATTCCTATTTCAACTACCAATG -3'
(R):5'- GTAGATCTCCCTGCTGAAGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation