Incidental Mutation 'R2223:Fam184a'
ID |
241622 |
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 |
040224-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R2223 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 53531175 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 733
(T733M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
[ENSMUST00000218659]
[ENSMUST00000218682]
|
AlphaFold |
E9PW83 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: T733M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000020003 Gene: ENSMUSG00000019856 AA Change: T733M
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: T677M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000127400 Gene: ENSMUSG00000019856 AA Change: T677M
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: 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 |
noncoding transcript
Transcript: ENSMUST00000168949
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171807
AA Change: T329M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000130315 Gene: ENSMUSG00000019856 AA Change: T329M
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 |
silent
Transcript: ENSMUST00000218659
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218682
AA Change: T130M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Meta Mutation Damage Score |
0.1696 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
All alleles(2) : Targeted, other(2) |
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd18 |
A |
G |
3: 40,889,296 (GRCm39) |
|
probably benign |
Het |
Acvr1b |
C |
T |
15: 101,100,924 (GRCm39) |
A362V |
probably benign |
Het |
Adamts5 |
A |
C |
16: 85,696,194 (GRCm39) |
L321R |
probably damaging |
Het |
Adamtsl1 |
A |
C |
4: 86,306,762 (GRCm39) |
D1392A |
probably benign |
Het |
Afdn |
T |
C |
17: 14,103,999 (GRCm39) |
|
probably benign |
Het |
Aph1b |
A |
T |
9: 66,691,921 (GRCm39) |
M121K |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,080,868 (GRCm39) |
A120T |
probably damaging |
Het |
Atp8b1 |
T |
A |
18: 64,697,428 (GRCm39) |
N472I |
possibly damaging |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cdcp3 |
A |
T |
7: 130,849,186 (GRCm39) |
|
probably null |
Het |
Cfd |
A |
T |
10: 79,728,039 (GRCm39) |
|
probably null |
Het |
Cntnap5b |
A |
G |
1: 100,141,412 (GRCm39) |
E242G |
probably damaging |
Het |
Col9a2 |
C |
G |
4: 120,911,455 (GRCm39) |
R599G |
probably damaging |
Het |
Cradd |
A |
C |
10: 95,011,735 (GRCm39) |
V135G |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,979,617 (GRCm39) |
C460R |
probably damaging |
Het |
Cryz |
A |
T |
3: 154,324,191 (GRCm39) |
N192I |
possibly damaging |
Het |
Cyp2d11 |
T |
A |
15: 82,274,332 (GRCm39) |
M350L |
probably benign |
Het |
Emsy |
T |
C |
7: 98,239,982 (GRCm39) |
E1091G |
possibly damaging |
Het |
Exoc3l4 |
C |
G |
12: 111,392,586 (GRCm39) |
A471G |
possibly damaging |
Het |
Fmo2 |
C |
T |
1: 162,725,813 (GRCm39) |
C21Y |
probably damaging |
Het |
Glul |
T |
A |
1: 153,782,243 (GRCm39) |
|
probably null |
Het |
Gm5174 |
T |
A |
10: 86,492,372 (GRCm39) |
|
noncoding transcript |
Het |
Gtpbp2 |
A |
G |
17: 46,478,153 (GRCm39) |
I434V |
probably benign |
Het |
Kctd10 |
G |
T |
5: 114,505,410 (GRCm39) |
R195S |
probably benign |
Het |
Lrrc38 |
T |
A |
4: 143,096,419 (GRCm39) |
C243* |
probably null |
Het |
Luc7l2 |
T |
C |
6: 38,542,659 (GRCm39) |
|
probably benign |
Het |
Magi2 |
T |
A |
5: 20,670,670 (GRCm39) |
V111D |
probably damaging |
Het |
Map3k5 |
T |
C |
10: 19,943,666 (GRCm39) |
V590A |
possibly damaging |
Het |
Megf11 |
G |
A |
9: 64,567,713 (GRCm39) |
G401S |
possibly damaging |
Het |
Mgat4d |
G |
A |
8: 84,082,301 (GRCm39) |
|
probably benign |
Het |
Mroh1 |
T |
C |
15: 76,292,245 (GRCm39) |
|
probably null |
Het |
Mx1 |
T |
C |
16: 97,256,432 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
A |
G |
11: 71,046,815 (GRCm39) |
|
probably benign |
Het |
Ntrk3 |
T |
C |
7: 77,848,600 (GRCm39) |
I759V |
probably damaging |
Het |
Or6c210 |
T |
A |
10: 129,495,678 (GRCm39) |
M1K |
probably null |
Het |
Pde8b |
T |
C |
13: 95,179,955 (GRCm39) |
N318S |
probably damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,839,063 (GRCm39) |
T874A |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,900,422 (GRCm39) |
T40A |
probably benign |
Het |
Prdm2 |
T |
C |
4: 142,861,469 (GRCm39) |
N607S |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,234,581 (GRCm39) |
|
probably benign |
Het |
Setx |
T |
G |
2: 29,038,549 (GRCm39) |
I1678S |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Snap91 |
T |
C |
9: 86,674,580 (GRCm39) |
T544A |
possibly damaging |
Het |
Sp8 |
G |
A |
12: 118,813,473 (GRCm39) |
G443S |
probably damaging |
Het |
Stk39 |
C |
T |
2: 68,144,923 (GRCm39) |
G384S |
probably damaging |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Trip10 |
A |
G |
17: 57,570,039 (GRCm39) |
D568G |
possibly damaging |
Het |
Trpa1 |
A |
T |
1: 14,973,480 (GRCm39) |
F279L |
probably null |
Het |
Ttc39b |
T |
C |
4: 83,150,999 (GRCm39) |
N532S |
probably benign |
Het |
Ube2w |
A |
G |
1: 16,668,183 (GRCm39) |
S97P |
possibly damaging |
Het |
Uvssa |
C |
T |
5: 33,549,407 (GRCm39) |
T356I |
probably damaging |
Het |
Vmn1r25 |
A |
C |
6: 57,956,223 (GRCm39) |
L22R |
probably damaging |
Het |
Vmn2r112 |
T |
G |
17: 22,820,214 (GRCm39) |
M29R |
possibly damaging |
Het |
Vmn2r71 |
T |
A |
7: 85,273,301 (GRCm39) |
M705K |
probably benign |
Het |
Zfp516 |
C |
A |
18: 82,973,895 (GRCm39) |
A31D |
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 |
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 |
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'- TCACATTGGGCTGCATCTGG -3'
(R):5'- TTCATCAGACCTGTTGACCTGC -3'
Sequencing Primer
(F):5'- TTGGGCTGCATCTGGACCAC -3'
(R):5'- AGACCTGTTGACCTGCTCTTC -3'
|
Posted On |
2014-10-15 |