Incidental Mutation 'R7479:Fam184a'
| ID |
579685 |
| 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 |
045553-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R7479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 53531110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 755
(V755I)
|
| 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: V755I
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: V755I
| 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: V699I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: V699I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: V7I
| 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: V351I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: V351I
| 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: R29H
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218682
AA Change: V152I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
A |
3: 124,372,142 (GRCm39) |
M81L |
probably benign |
Het |
| Ano9 |
T |
C |
7: 140,682,348 (GRCm39) |
T667A |
probably damaging |
Het |
| Anpep |
T |
A |
7: 79,485,118 (GRCm39) |
I623F |
probably benign |
Het |
| Apba2 |
T |
C |
7: 64,389,607 (GRCm39) |
I501T |
possibly damaging |
Het |
| Ascc3 |
T |
A |
10: 50,525,895 (GRCm39) |
Y536N |
probably damaging |
Het |
| B4galt1 |
T |
C |
4: 40,823,587 (GRCm39) |
Y168C |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C2 |
A |
G |
17: 35,082,441 (GRCm39) |
C647R |
probably damaging |
Het |
| Cnot4 |
G |
A |
6: 35,001,083 (GRCm39) |
T604I |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,896,218 (GRCm39) |
T506I |
unknown |
Het |
| Cr2 |
A |
C |
1: 194,840,718 (GRCm39) |
|
probably null |
Het |
| Ctsm |
A |
T |
13: 61,685,569 (GRCm39) |
V281D |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,870,001 (GRCm39) |
I74V |
probably benign |
Het |
| Dennd4c |
T |
A |
4: 86,717,590 (GRCm39) |
V529D |
probably damaging |
Het |
| Dlgap3 |
C |
A |
4: 127,088,418 (GRCm39) |
H5N |
possibly damaging |
Het |
| Dusp10 |
C |
A |
1: 183,769,617 (GRCm39) |
H194Q |
probably damaging |
Het |
| Eln |
C |
G |
5: 134,736,429 (GRCm39) |
G753A |
unknown |
Het |
| Emb |
T |
A |
13: 117,385,962 (GRCm39) |
N118K |
possibly damaging |
Het |
| Fryl |
A |
G |
5: 73,254,904 (GRCm39) |
I846T |
possibly damaging |
Het |
| Gabbr2 |
T |
A |
4: 46,681,166 (GRCm39) |
I722F |
probably damaging |
Het |
| Gabrb3 |
T |
A |
7: 57,474,171 (GRCm39) |
D362E |
possibly damaging |
Het |
| Galnt2 |
G |
A |
8: 125,061,077 (GRCm39) |
G357D |
probably damaging |
Het |
| Gbx2 |
A |
T |
1: 89,858,373 (GRCm39) |
S35R |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,367 (GRCm39) |
I207T |
possibly damaging |
Het |
| Gm10192 |
A |
T |
4: 97,071,272 (GRCm39) |
N44K |
unknown |
Het |
| Gpd1 |
A |
G |
15: 99,617,984 (GRCm39) |
D123G |
probably benign |
Het |
| Grm2 |
A |
T |
9: 106,531,050 (GRCm39) |
D146E |
possibly damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,676,032 (GRCm39) |
D132G |
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,425 (GRCm39) |
G236R |
probably damaging |
Het |
| Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,266,714 (GRCm39) |
A1934V |
probably benign |
Het |
| Il7r |
C |
T |
15: 9,513,117 (GRCm39) |
A131T |
probably damaging |
Het |
| Itga6 |
C |
T |
2: 71,668,680 (GRCm39) |
R540* |
probably null |
Het |
| Kcnh2 |
A |
G |
5: 24,530,490 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
C |
T |
4: 120,573,022 (GRCm39) |
A260T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,691,517 (GRCm39) |
N3434S |
|
Het |
| Lrrc41 |
C |
T |
4: 115,946,238 (GRCm39) |
P318S |
probably damaging |
Het |
| Map4 |
G |
A |
9: 109,897,892 (GRCm39) |
G873R |
possibly damaging |
Het |
| Med24 |
A |
G |
11: 98,595,787 (GRCm39) |
I968T |
possibly damaging |
Het |
| Mfap5 |
T |
C |
6: 122,503,821 (GRCm39) |
|
probably null |
Het |
| Mtcl1 |
A |
G |
17: 66,686,485 (GRCm39) |
V807A |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,855,467 (GRCm39) |
S934T |
possibly damaging |
Het |
| Nckap5l |
C |
A |
15: 99,321,127 (GRCm39) |
V1218F |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,088 (GRCm39) |
E258G |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,913,281 (GRCm39) |
V545E |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,882,858 (GRCm39) |
D162G |
possibly damaging |
Het |
| Rhot2 |
A |
G |
17: 26,059,723 (GRCm39) |
L367P |
probably damaging |
Het |
| Ripk2 |
A |
G |
4: 16,155,154 (GRCm39) |
F122L |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,588,941 (GRCm39) |
T1322A |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,853,358 (GRCm39) |
L115Q |
probably damaging |
Het |
| Sel1l3 |
G |
T |
5: 53,274,462 (GRCm39) |
P1006Q |
probably damaging |
Het |
| Septin11 |
A |
T |
5: 93,304,804 (GRCm39) |
N207I |
probably damaging |
Het |
| Sez6l2 |
C |
T |
7: 126,562,831 (GRCm39) |
T669I |
probably damaging |
Het |
| Sfxn4 |
T |
A |
19: 60,847,112 (GRCm39) |
D57V |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,617,887 (GRCm39) |
V306D |
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,712,794 (GRCm39) |
|
probably null |
Het |
| Tas2r134 |
T |
C |
2: 51,517,541 (GRCm39) |
F7L |
not run |
Het |
| Tbcd |
T |
C |
11: 121,383,431 (GRCm39) |
|
probably null |
Het |
| Tcn2 |
G |
A |
11: 3,867,703 (GRCm39) |
A413V |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,857,654 (GRCm39) |
V71A |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,928 (GRCm39) |
T1649A |
probably damaging |
Het |
| Tnc |
T |
C |
4: 63,935,865 (GRCm39) |
E357G |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,773,327 (GRCm39) |
T1158A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,568,952 (GRCm39) |
E27314* |
probably null |
Het |
| Vps35 |
G |
T |
8: 85,997,434 (GRCm39) |
T512K |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,396,292 (GRCm39) |
S98R |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,340 (GRCm39) |
C541S |
possibly damaging |
Het |
| Zfp976 |
T |
A |
7: 42,262,603 (GRCm39) |
E412D |
probably benign |
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 |
|
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'- GCTGGTGATTCCTATTTCAACTACC -3'
(R):5'- AGTCTGTGAAACGTGCCTCG -3'
Sequencing Primer
(F):5'- TTCAACTACCAATGTTAGGTTCAC -3'
(R):5'- CTGTCTGTCTGGCGTAGATCTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation