Incidental Mutation 'R9134:Fam184a'
| ID |
693847 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R9134 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53573344 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 345
(K345N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: K345N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: K345N
| 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: K289N
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: K289N
| 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: ENSMUST00000171807
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
| 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 |
|
| Meta Mutation Damage Score |
0.0981 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1m1 |
A |
G |
8: 72,993,913 (GRCm39) |
|
probably benign |
Het |
| Arhgdia |
A |
T |
11: 120,470,392 (GRCm39) |
I122N |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Atad5 |
G |
A |
11: 80,023,931 (GRCm39) |
R1681K |
probably benign |
Het |
| Bpifb9b |
T |
C |
2: 154,151,441 (GRCm39) |
V54A |
probably benign |
Het |
| Cby3 |
A |
C |
11: 50,250,153 (GRCm39) |
T25P |
probably damaging |
Het |
| Ccdc138 |
T |
G |
10: 58,374,102 (GRCm39) |
L374R |
probably damaging |
Het |
| Cd84 |
T |
A |
1: 171,679,413 (GRCm39) |
N30K |
probably damaging |
Het |
| Cdk20 |
T |
A |
13: 64,580,906 (GRCm39) |
|
probably null |
Het |
| Chd9 |
A |
G |
8: 91,659,754 (GRCm39) |
H238R |
unknown |
Het |
| Cplane1 |
T |
C |
15: 8,228,716 (GRCm39) |
V929A |
probably damaging |
Het |
| Csl |
T |
A |
10: 99,594,237 (GRCm39) |
H276L |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,404,910 (GRCm39) |
L2544P |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,978,972 (GRCm39) |
T1807A |
probably damaging |
Het |
| Dph7 |
C |
T |
2: 24,861,720 (GRCm39) |
H378Y |
probably benign |
Het |
| Enkur |
T |
C |
2: 21,185,779 (GRCm39) |
I249V |
probably benign |
Het |
| Fam117a |
C |
A |
11: 95,271,745 (GRCm39) |
S439* |
probably null |
Het |
| Fam228a |
T |
C |
12: 4,765,686 (GRCm39) |
R255G |
probably benign |
Het |
| Fpr-rs7 |
A |
T |
17: 20,334,325 (GRCm39) |
M55K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,562,321 (GRCm39) |
Y729H |
probably damaging |
Het |
| Herc2 |
A |
G |
7: 55,832,177 (GRCm39) |
T2989A |
probably damaging |
Het |
| Hspb8 |
A |
G |
5: 116,547,547 (GRCm39) |
L145P |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,855,323 (GRCm39) |
V250E |
probably benign |
Het |
| Ide |
G |
T |
19: 37,273,561 (GRCm39) |
|
probably benign |
Het |
| Ino80c |
T |
C |
18: 24,254,765 (GRCm39) |
S32G |
probably benign |
Het |
| Insr |
G |
A |
8: 3,308,413 (GRCm39) |
R208W |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,743,351 (GRCm39) |
R1674W |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,666,514 (GRCm39) |
V1153M |
unknown |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lrrc41 |
C |
A |
4: 115,945,782 (GRCm39) |
Q166K |
possibly damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,820,183 (GRCm39) |
|
probably null |
Het |
| Mndal |
T |
C |
1: 173,699,096 (GRCm39) |
I190V |
unknown |
Het |
| Nisch |
TCTGCTGC |
TCTGCTGCTGC |
14: 30,896,637 (GRCm39) |
|
probably benign |
Het |
| Nme4 |
G |
T |
17: 26,314,389 (GRCm39) |
A13E |
probably benign |
Het |
| Or14c39 |
C |
A |
7: 86,344,588 (GRCm39) |
S308* |
probably null |
Het |
| Or3a1 |
A |
G |
11: 74,225,670 (GRCm39) |
I129T |
probably damaging |
Het |
| Or5b114-ps1 |
G |
T |
19: 13,352,613 (GRCm39) |
A96S |
probably damaging |
Het |
| Pcmt1 |
A |
T |
10: 7,520,207 (GRCm39) |
|
probably benign |
Het |
| Pde4c |
G |
T |
8: 71,201,160 (GRCm39) |
V493F |
probably damaging |
Het |
| Pde8a |
C |
T |
7: 80,982,619 (GRCm39) |
T746I |
probably damaging |
Het |
| Pira13 |
T |
C |
7: 3,825,182 (GRCm39) |
S487G |
|
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Prr23a1 |
T |
C |
9: 98,724,935 (GRCm39) |
L99P |
|
Het |
| Rex2 |
C |
G |
4: 147,142,643 (GRCm39) |
T377S |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,703,738 (GRCm39) |
F50L |
|
Het |
| Srgap1 |
A |
G |
10: 121,883,127 (GRCm39) |
|
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,042,791 (GRCm39) |
N358D |
possibly damaging |
Het |
| Tfec |
T |
A |
6: 16,835,326 (GRCm39) |
T151S |
probably damaging |
Het |
| Tll1 |
A |
T |
8: 64,469,201 (GRCm39) |
I974N |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,074,321 (GRCm39) |
V338A |
probably benign |
Het |
| Trappc6b |
T |
A |
12: 59,097,160 (GRCm39) |
D54V |
probably damaging |
Het |
| Trav6-2 |
T |
A |
14: 52,905,109 (GRCm39) |
C43* |
probably null |
Het |
| Ubr4 |
T |
A |
4: 139,127,755 (GRCm39) |
|
probably null |
Het |
| Vmn1r2 |
T |
A |
4: 3,172,884 (GRCm39) |
W268R |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,832,093 (GRCm39) |
L232S |
probably damaging |
Het |
| Vps26b |
T |
C |
9: 26,921,225 (GRCm39) |
T325A |
probably benign |
Het |
| Vwa3a |
T |
C |
7: 120,377,659 (GRCm39) |
V438A |
probably damaging |
Het |
| Wdcp |
C |
A |
12: 4,901,533 (GRCm39) |
S463* |
probably null |
Het |
| Xkr4 |
C |
T |
1: 3,740,860 (GRCm39) |
G238S |
probably benign |
Het |
| Zranb1 |
A |
G |
7: 132,551,886 (GRCm39) |
N179S |
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 |
|
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 |
|
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'- AATGAACGGTGAAGCCTCTGG -3'
(R):5'- GAGCATTAGACTGCAGTAGGC -3'
Sequencing Primer
(F):5'- AACGGTGAAGCCTCTGGATTTTG -3'
(R):5'- AGAAATAGGCTTCCTCCATTGGGTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation