Incidental Mutation 'R7881:Fam184a'
| ID |
608766 |
| 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 |
045933-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R7881 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53574589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 340
(V340A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020003
AA Change: V340A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: V340A
| 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: V284A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: V284A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (63/65) |
| 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 |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,685 (GRCm39) |
N1030S |
possibly damaging |
Het |
| 4930507D05Rik |
A |
G |
10: 62,285,303 (GRCm39) |
H9R |
unknown |
Het |
| Anks1b |
T |
A |
10: 90,802,880 (GRCm39) |
S398T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,122,871 (GRCm39) |
K139N |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,948,666 (GRCm39) |
H3047N |
probably damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Camta1 |
G |
A |
4: 151,920,333 (GRCm39) |
S18F |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,031,277 (GRCm39) |
Y12C |
possibly damaging |
Het |
| Celsr3 |
G |
A |
9: 108,705,271 (GRCm39) |
A585T |
probably benign |
Het |
| Col6a4 |
T |
C |
9: 105,957,497 (GRCm39) |
N109S |
probably benign |
Het |
| Crisp4 |
A |
T |
1: 18,198,893 (GRCm39) |
D180E |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,997,450 (GRCm39) |
M546K |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,951,237 (GRCm39) |
V3024I |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,322,064 (GRCm39) |
D3752G |
probably damaging |
Het |
| Dram1 |
G |
T |
10: 88,160,609 (GRCm39) |
D237E |
probably benign |
Het |
| Ehbp1l1 |
T |
C |
19: 5,769,426 (GRCm39) |
N626D |
probably benign |
Het |
| Elavl1 |
T |
G |
8: 4,361,763 (GRCm39) |
N3T |
probably damaging |
Het |
| Fer1l5 |
C |
T |
1: 36,446,117 (GRCm39) |
T876M |
not run |
Het |
| Foxp2 |
T |
A |
6: 15,409,888 (GRCm39) |
V471E |
unknown |
Het |
| Fstl5 |
G |
A |
3: 76,443,605 (GRCm39) |
G317R |
probably damaging |
Het |
| Gm32742 |
T |
C |
9: 51,060,414 (GRCm39) |
E963G |
possibly damaging |
Het |
| Gpbp1 |
A |
T |
13: 111,575,733 (GRCm39) |
S257T |
possibly damaging |
Het |
| Gsdmc4 |
C |
T |
15: 63,769,568 (GRCm39) |
C218Y |
possibly damaging |
Het |
| Hmg20b |
T |
C |
10: 81,182,442 (GRCm39) |
H298R |
probably damaging |
Het |
| Igf2r |
A |
T |
17: 12,967,591 (GRCm39) |
C72S |
probably benign |
Het |
| Kcnip1 |
A |
G |
11: 33,583,206 (GRCm39) |
M193T |
probably damaging |
Het |
| Khdc1c |
G |
T |
1: 21,439,899 (GRCm39) |
C150F |
probably benign |
Het |
| Kmt2b |
A |
G |
7: 30,279,208 (GRCm39) |
S1485P |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,787,001 (GRCm39) |
S533P |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,040,060 (GRCm39) |
V997E |
possibly damaging |
Het |
| Mob2 |
T |
C |
7: 141,563,177 (GRCm39) |
Y94C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Npepl1 |
A |
G |
2: 173,962,387 (GRCm39) |
D351G |
probably damaging |
Het |
| Nrg1 |
G |
A |
8: 32,328,352 (GRCm39) |
Q213* |
probably null |
Het |
| Nrp2 |
A |
G |
1: 62,810,990 (GRCm39) |
D677G |
probably benign |
Het |
| Or11h7 |
A |
G |
14: 50,890,904 (GRCm39) |
E70G |
probably damaging |
Het |
| Or2b4 |
G |
T |
17: 38,116,320 (GRCm39) |
G95C |
probably damaging |
Het |
| Or56a3 |
G |
T |
7: 104,735,780 (GRCm39) |
V286F |
probably damaging |
Het |
| Or5aq7 |
G |
T |
2: 86,938,401 (GRCm39) |
T110K |
probably damaging |
Het |
| Or5m3b |
C |
A |
2: 85,871,814 (GRCm39) |
Q52K |
probably benign |
Het |
| Or8c8 |
T |
A |
9: 38,165,406 (GRCm39) |
M228K |
probably benign |
Het |
| Peg10 |
ACATCAGGATCC |
ACATCAGGATCCCCATCAGGATCC |
6: 4,756,454 (GRCm39) |
|
probably benign |
Het |
| Phaf1 |
C |
A |
8: 105,976,084 (GRCm39) |
T347N |
probably benign |
Het |
| Prune2 |
G |
A |
19: 17,100,393 (GRCm39) |
V1966I |
possibly damaging |
Het |
| Ptch2 |
A |
G |
4: 116,967,585 (GRCm39) |
H751R |
probably benign |
Het |
| Ptges2 |
T |
A |
2: 32,292,243 (GRCm39) |
M353K |
probably damaging |
Het |
| Pum3 |
G |
A |
19: 27,373,728 (GRCm39) |
Q564* |
probably null |
Het |
| Qtrt1 |
A |
G |
9: 21,330,637 (GRCm39) |
D279G |
probably damaging |
Het |
| Rftn1 |
C |
T |
17: 50,354,463 (GRCm39) |
V300I |
probably benign |
Het |
| Robo2 |
T |
C |
16: 73,717,585 (GRCm39) |
T1172A |
probably benign |
Het |
| Sdc3 |
A |
G |
4: 130,544,244 (GRCm39) |
D74G |
unknown |
Het |
| Setd1b |
A |
G |
5: 123,290,336 (GRCm39) |
M768V |
unknown |
Het |
| Shld2 |
A |
T |
14: 33,989,724 (GRCm39) |
M394K |
possibly damaging |
Het |
| Siglech |
A |
T |
7: 55,422,289 (GRCm39) |
H298L |
probably benign |
Het |
| Sipa1 |
A |
T |
19: 5,701,704 (GRCm39) |
L977Q |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,403,332 (GRCm39) |
V800I |
probably benign |
Het |
| Spata31e1 |
A |
G |
13: 49,943,547 (GRCm39) |
S44P |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,586 (GRCm39) |
C190Y |
probably benign |
Het |
| Tbc1d8 |
C |
T |
1: 39,425,104 (GRCm39) |
R582Q |
probably damaging |
Het |
| Tmem247 |
T |
A |
17: 87,229,728 (GRCm39) |
F190I |
probably damaging |
Het |
| Trim42 |
C |
A |
9: 97,245,070 (GRCm39) |
A577S |
possibly damaging |
Het |
| Ubiad1 |
G |
A |
4: 148,528,726 (GRCm39) |
T61I |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,923,435 (GRCm39) |
Q279* |
probably null |
Het |
| Usp48 |
A |
G |
4: 137,360,766 (GRCm39) |
N733S |
probably benign |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xkr4 |
G |
A |
1: 3,286,487 (GRCm39) |
P568S |
probably damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,664,679 (GRCm39) |
W513R |
probably damaging |
Het |
| Zfp40 |
T |
C |
17: 23,410,440 (GRCm39) |
|
probably benign |
Het |
| Zfp652 |
T |
A |
11: 95,640,935 (GRCm39) |
S287T |
possibly damaging |
Het |
| Znrf3 |
G |
A |
11: 5,394,533 (GRCm39) |
A49V |
unknown |
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 |
|
|
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'- AAATTCTCCTGAACACGGGGC -3'
(R):5'- CAGCTCTTCACAGCCGAAAG -3'
Sequencing Primer
(F):5'- CTGGCTATCCTGAACAGCTGAAATG -3'
(R):5'- AAAGCTTGCAGGCCAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation