Incidental Mutation 'R9614:Fam184a'
| ID |
724459 |
| 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: 0.162)
|
| Stock # |
R9614 (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 53517144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 980
(E980G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000164393]
[ENSMUST00000169866]
[ENSMUST00000171807]
[ENSMUST00000217939]
[ENSMUST00000218659]
[ENSMUST00000218682]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020003
AA Change: E980G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: E980G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: E875G
| 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: ENSMUST00000164393
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000128132
Gene: ENSMUSG00000019856
AA Change: E232G
| 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 damaging
Transcript: ENSMUST00000169866
AA Change: E38G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128426
Gene: ENSMUSG00000019856
AA Change: E38G
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
18 |
41 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171807
AA Change: E527G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: E527G
| 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 |
probably damaging
Transcript: ENSMUST00000217939
AA Change: E88G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218659
AA Change: E203G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218682
AA Change: E377G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218780
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810055G02Rik |
C |
T |
19: 3,767,364 (GRCm39) |
T317I |
possibly damaging |
Het |
| Adamts7 |
T |
A |
9: 90,077,251 (GRCm39) |
V1306E |
probably damaging |
Het |
| Adcy9 |
C |
T |
16: 4,106,547 (GRCm39) |
D1093N |
probably damaging |
Het |
| Adgra3 |
A |
G |
5: 50,164,250 (GRCm39) |
V243A |
probably damaging |
Het |
| Aqp4 |
C |
T |
18: 15,526,687 (GRCm39) |
A265T |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,970,119 (GRCm39) |
|
probably null |
Het |
| Atp13a4 |
A |
G |
16: 29,260,398 (GRCm39) |
V560A |
|
Het |
| Best2 |
A |
C |
8: 85,740,051 (GRCm39) |
C38G |
|
Het |
| Bicra |
A |
T |
7: 15,705,880 (GRCm39) |
S1520R |
probably damaging |
Het |
| C1s2 |
A |
G |
6: 124,602,588 (GRCm39) |
L541P |
probably damaging |
Het |
| Calcoco2 |
T |
A |
11: 95,991,185 (GRCm39) |
H184L |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,403 (GRCm39) |
I163F |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,597,563 (GRCm39) |
H356R |
probably damaging |
Het |
| Clu |
A |
C |
14: 66,208,851 (GRCm39) |
H32P |
unknown |
Het |
| Col5a1 |
T |
A |
2: 27,879,186 (GRCm39) |
D840E |
unknown |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,208,239 (GRCm39) |
V1239L |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,482,945 (GRCm39) |
Q267L |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,975,212 (GRCm39) |
R1689W |
probably damaging |
Het |
| Dao |
A |
T |
5: 114,152,060 (GRCm39) |
D126V |
probably benign |
Het |
| Eif3l |
T |
C |
15: 78,978,423 (GRCm39) |
M560T |
probably benign |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,379 (GRCm39) |
I154N |
probably damaging |
Het |
| Fgf21 |
T |
C |
7: 45,264,703 (GRCm39) |
T10A |
probably benign |
Het |
| Fhad1 |
A |
C |
4: 141,678,882 (GRCm39) |
V598G |
possibly damaging |
Het |
| Foxc1 |
A |
T |
13: 31,991,863 (GRCm39) |
I225F |
possibly damaging |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Galnt9 |
G |
A |
5: 110,744,047 (GRCm39) |
G294S |
probably damaging |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Idh2 |
A |
T |
7: 79,747,925 (GRCm39) |
Y258* |
probably null |
Het |
| Immp2l |
T |
C |
12: 41,160,933 (GRCm39) |
V77A |
probably damaging |
Het |
| Isl1 |
T |
C |
13: 116,441,924 (GRCm39) |
E103G |
|
Het |
| Itgad |
A |
T |
7: 127,803,022 (GRCm39) |
T1059S |
probably damaging |
Het |
| Kcnj6 |
G |
A |
16: 94,633,307 (GRCm39) |
T268I |
probably damaging |
Het |
| Lgals3bp |
A |
G |
11: 118,284,037 (GRCm39) |
V514A |
probably benign |
Het |
| Mcfd2 |
A |
T |
17: 87,565,421 (GRCm39) |
H27Q |
probably benign |
Het |
| Mettl13 |
A |
G |
1: 162,364,769 (GRCm39) |
W537R |
probably damaging |
Het |
| Mybl2 |
G |
T |
2: 162,906,225 (GRCm39) |
G102V |
probably damaging |
Het |
| Nars2 |
C |
T |
7: 96,689,125 (GRCm39) |
T349M |
probably damaging |
Het |
| Nat8f3 |
A |
T |
6: 85,738,708 (GRCm39) |
V18E |
|
Het |
| Npepps |
T |
C |
11: 97,149,177 (GRCm39) |
E115G |
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,904,310 (GRCm39) |
D322G |
probably benign |
Het |
| Oog2 |
T |
A |
4: 143,922,707 (GRCm39) |
V324E |
probably damaging |
Het |
| Or2y12 |
T |
A |
11: 49,426,071 (GRCm39) |
W20R |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,899,526 (GRCm39) |
M81L |
possibly damaging |
Het |
| Or8d2b |
G |
A |
9: 38,789,281 (GRCm39) |
V270M |
probably damaging |
Het |
| Or8j3b |
A |
G |
2: 86,205,012 (GRCm39) |
V248A |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,486 (GRCm39) |
S1550P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pms2 |
T |
C |
5: 143,854,420 (GRCm39) |
V243A |
probably benign |
Het |
| Ptpn9 |
A |
G |
9: 56,944,005 (GRCm39) |
D293G |
probably benign |
Het |
| Ptprb |
A |
G |
10: 116,203,441 (GRCm39) |
K1784R |
probably damaging |
Het |
| Rab23 |
CAA |
CA |
1: 33,764,077 (GRCm39) |
|
probably null |
Het |
| Raf1 |
T |
C |
6: 115,596,597 (GRCm39) |
N576D |
probably benign |
Het |
| Rasa4 |
C |
A |
5: 136,140,343 (GRCm39) |
H782Q |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,491,969 (GRCm39) |
E168* |
probably null |
Het |
| Rpgrip1l |
A |
T |
8: 91,987,434 (GRCm39) |
N874K |
possibly damaging |
Het |
| Rxfp4 |
C |
T |
3: 88,559,969 (GRCm39) |
V161I |
possibly damaging |
Het |
| Scel |
G |
A |
14: 103,843,032 (GRCm39) |
G558D |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,196,565 (GRCm39) |
K723R |
probably null |
Het |
| Slc12a1 |
A |
T |
2: 125,002,445 (GRCm39) |
R142W |
probably damaging |
Het |
| Slc27a2 |
T |
A |
2: 126,409,736 (GRCm39) |
V306D |
probably damaging |
Het |
| Sox4 |
C |
T |
13: 29,136,079 (GRCm39) |
G309D |
probably damaging |
Het |
| Terb1 |
T |
C |
8: 105,223,476 (GRCm39) |
T111A |
probably benign |
Het |
| Tgfa |
G |
A |
6: 86,248,397 (GRCm39) |
R133H |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,345,754 (GRCm39) |
S1836P |
probably damaging |
Het |
| Tlk2 |
A |
G |
11: 105,138,328 (GRCm39) |
D292G |
probably benign |
Het |
| Tmc7 |
A |
G |
7: 118,141,160 (GRCm39) |
I657T |
probably benign |
Het |
| Tmprss11c |
G |
A |
5: 86,383,379 (GRCm39) |
T349I |
probably benign |
Het |
| Trhr |
A |
G |
15: 44,060,981 (GRCm39) |
N167S |
probably benign |
Het |
| Tsc22d1 |
T |
G |
14: 76,653,983 (GRCm39) |
I154S |
probably damaging |
Het |
| Vmn1r2 |
T |
C |
4: 3,172,587 (GRCm39) |
Y169H |
probably damaging |
Het |
| Vmn1r77 |
G |
T |
7: 11,775,766 (GRCm39) |
V181L |
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 |
|
R9134:Fam184a
|
UTSW |
10 |
53,573,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:Fam184a
|
UTSW |
10 |
53,566,115 (GRCm39) |
missense |
probably benign |
|
|
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'- GGGTAAAATTCCCTTATTCTGATGCC -3'
(R):5'- CCCATGGAGCACTTAATGGC -3'
Sequencing Primer
(F):5'- TTAAAGCTTAATAAACGTGCCCAC -3'
(R):5'- ATGGCTCTTAGGGCAATCAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation