Incidental Mutation 'R7449:Fam184a'
| ID |
577573 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184a
|
| Ensembl Gene |
ENSMUSG00000019856 |
| Gene Name |
family with sequence similarity 184, member A |
| Synonyms |
4930438C08Rik, 4930589M24Rik, 3110012E06Rik |
| MMRRC Submission |
045524-MU
|
| Accession Numbers |
Genbank: NM_001081428; MGI: 1923156 |
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R7449 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53633145-53751123 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53698634 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 293
(E293G)
|
| 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: E293G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: E293G
| 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 |
possibly damaging
Transcript: ENSMUST00000163761
AA Change: E237G
PolyPhen 2
Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: E237G
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,435,908 (GRCm38) |
Y306N |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,499,073 (GRCm38) |
V3116D |
probably damaging |
Het |
| Adssl1 |
A |
T |
12: 112,634,151 (GRCm38) |
T185S |
probably damaging |
Het |
| Ago2 |
G |
A |
15: 73,146,499 (GRCm38) |
P30L |
probably damaging |
Het |
| Atp5j |
C |
T |
16: 84,831,363 (GRCm38) |
V44M |
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,011,849 (GRCm38) |
I833F |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,702,341 (GRCm38) |
N4869K |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,602,349 (GRCm38) |
D1796N |
|
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,605,304 (GRCm38) |
I289T |
probably benign |
Het |
| Crybg1 |
C |
A |
10: 44,004,519 (GRCm38) |
E224D |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,137,380 (GRCm38) |
L1217P |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,410,020 (GRCm38) |
N339K |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,876,193 (GRCm38) |
|
probably null |
Het |
| Fam172a |
A |
G |
13: 77,759,442 (GRCm38) |
I41V |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,731,748 (GRCm38) |
P506S |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,580,163 (GRCm38) |
K210N |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,844,494 (GRCm38) |
V6D |
possibly damaging |
Het |
| Ghitm |
C |
A |
14: 37,131,581 (GRCm38) |
G101C |
probably damaging |
Het |
| Gimap5 |
T |
A |
6: 48,752,904 (GRCm38) |
V136D |
probably damaging |
Het |
| Gm9745 |
T |
A |
13: 8,943,304 (GRCm38) |
H51L |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,435,371 (GRCm38) |
G535D |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 120,229,711 (GRCm38) |
S314P |
unknown |
Het |
| Hnrnpdl |
A |
G |
5: 100,037,155 (GRCm38) |
I279T |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,389,384 (GRCm38) |
S923P |
probably damaging |
Het |
| Krt39 |
C |
A |
11: 99,518,061 (GRCm38) |
C303F |
probably benign |
Het |
| Lrrn1 |
T |
C |
6: 107,568,521 (GRCm38) |
S427P |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,453,488 (GRCm38) |
R277W |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 55,767,918 (GRCm38) |
L226P |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,508,140 (GRCm38) |
R85Q |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,507,285 (GRCm38) |
L125P |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,482,051 (GRCm38) |
V589G |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,417,526 (GRCm38) |
F225C |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,157,966 (GRCm38) |
A322T |
probably damaging |
Het |
| Olfr299 |
A |
G |
7: 86,465,855 (GRCm38) |
H148R |
probably benign |
Het |
| Olfr69 |
G |
T |
7: 103,767,819 (GRCm38) |
Q193K |
probably benign |
Het |
| Olfr854 |
T |
A |
9: 19,566,866 (GRCm38) |
T173S |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,803,663 (GRCm38) |
C1363R |
probably damaging |
Het |
| Ovol1 |
T |
A |
19: 5,553,597 (GRCm38) |
D92V |
probably benign |
Het |
| Pigt |
T |
C |
2: 164,502,499 (GRCm38) |
L356P |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,566,222 (GRCm38) |
Q434R |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,079,552 (GRCm38) |
F1344L |
probably benign |
Het |
| Psmd3 |
T |
A |
11: 98,695,551 (GRCm38) |
L515Q |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,774,586 (GRCm38) |
L405P |
probably damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,881,032 (GRCm38) |
H55L |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,287,943 (GRCm38) |
I522V |
probably damaging |
Het |
| Raver2 |
T |
A |
4: 101,102,663 (GRCm38) |
H113Q |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,705,565 (GRCm38) |
D760G |
unknown |
Het |
| Rhobtb3 |
C |
T |
13: 75,910,741 (GRCm38) |
V313M |
probably benign |
Het |
| Rhox4d |
G |
A |
X: 37,518,992 (GRCm38) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,426,578 (GRCm38) |
Q135R |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,684,036 (GRCm38) |
S584G |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,267,652 (GRCm38) |
T904S |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,303,946 (GRCm38) |
V1002A |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,504,993 (GRCm38) |
I55T |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,446,708 (GRCm38) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,874,213 (GRCm38) |
D1654V |
possibly damaging |
Het |
| Tgfb1 |
G |
A |
7: 25,704,838 (GRCm38) |
V357M |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,703,361 (GRCm38) |
P2383S |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 64,208,975 (GRCm38) |
M382L |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,851,209 (GRCm38) |
Y3516C |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,885,233 (GRCm38) |
Y494* |
probably null |
Het |
| Ubr2 |
C |
T |
17: 46,964,788 (GRCm38) |
E811K |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,244,543 (GRCm38) |
F25I |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,459,895 (GRCm38) |
M785T |
probably damaging |
Het |
| Vmn2r99 |
G |
A |
17: 19,379,145 (GRCm38) |
D364N |
probably benign |
Het |
| Vps45 |
C |
A |
3: 96,047,136 (GRCm38) |
|
probably null |
Het |
| Wdr25 |
A |
C |
12: 109,026,441 (GRCm38) |
H426P |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,079,681 (GRCm38) |
W136R |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,592,005 (GRCm38) |
I343L |
possibly damaging |
Het |
| Znrd1as |
A |
G |
17: 36,964,383 (GRCm38) |
D16G |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,904,058 (GRCm38) |
Q53R |
possibly damaging |
Het |
|
| Other mutations in Fam184a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01380:Fam184a
|
APN |
10 |
53,694,686 (GRCm38) |
splice site |
probably benign |
|
|
IGL01448:Fam184a
|
APN |
10 |
53,698,949 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL02052:Fam184a
|
APN |
10 |
53,697,120 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02086:Fam184a
|
APN |
10 |
53,699,255 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02163:Fam184a
|
APN |
10 |
53,647,134 (GRCm38) |
splice site |
probably null |
|
|
IGL02247:Fam184a
|
APN |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02316:Fam184a
|
APN |
10 |
53,638,239 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02493:Fam184a
|
APN |
10 |
53,694,693 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02629:Fam184a
|
APN |
10 |
53,698,811 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
IGL03006:Fam184a
|
APN |
10 |
53,698,697 (GRCm38) |
missense |
probably damaging |
1.00 |
|
2107:Fam184a
|
UTSW |
10 |
53,641,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Fam184a
|
UTSW |
10 |
53,684,354 (GRCm38) |
nonsense |
probably null |
|
|
R0427:Fam184a
|
UTSW |
10 |
53,690,115 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0477:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0511:Fam184a
|
UTSW |
10 |
53,698,879 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1322:Fam184a
|
UTSW |
10 |
53,652,319 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1422:Fam184a
|
UTSW |
10 |
53,675,208 (GRCm38) |
missense |
probably benign |
0.29 |
|
R1474:Fam184a
|
UTSW |
10 |
53,635,365 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1752:Fam184a
|
UTSW |
10 |
53,674,570 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1831:Fam184a
|
UTSW |
10 |
53,647,084 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R2186:Fam184a
|
UTSW |
10 |
53,638,194 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2202:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2203:Fam184a
|
UTSW |
10 |
53,652,434 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2221:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2223:Fam184a
|
UTSW |
10 |
53,655,079 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2261:Fam184a
|
UTSW |
10 |
53,647,570 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2444:Fam184a
|
UTSW |
10 |
53,640,949 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3876:Fam184a
|
UTSW |
10 |
53,699,061 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3932:Fam184a
|
UTSW |
10 |
53,699,301 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4685:Fam184a
|
UTSW |
10 |
53,698,500 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4953:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5056:Fam184a
|
UTSW |
10 |
53,674,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5420:Fam184a
|
UTSW |
10 |
53,633,657 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6159:Fam184a
|
UTSW |
10 |
53,698,773 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6554:Fam184a
|
UTSW |
10 |
53,640,967 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6714:Fam184a
|
UTSW |
10 |
53,698,883 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6966:Fam184a
|
UTSW |
10 |
53,654,999 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7034:Fam184a
|
UTSW |
10 |
53,694,814 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7237:Fam184a
|
UTSW |
10 |
53,634,393 (GRCm38) |
unclassified |
probably benign |
|
|
R7253:Fam184a
|
UTSW |
10 |
53,698,805 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7359:Fam184a
|
UTSW |
10 |
53,699,222 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7479:Fam184a
|
UTSW |
10 |
53,655,014 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7725:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7726:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7881:Fam184a
|
UTSW |
10 |
53,698,493 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7886:Fam184a
|
UTSW |
10 |
53,675,160 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7896:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7897:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7937:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7943:Fam184a
|
UTSW |
10 |
53,647,041 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7943:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R7970:Fam184a
|
UTSW |
10 |
53,699,325 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7972:Fam184a
|
UTSW |
10 |
53,638,259 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8049:Fam184a
|
UTSW |
10 |
53,633,706 (GRCm38) |
nonsense |
probably null |
|
|
R9070:Fam184a
|
UTSW |
10 |
53,638,277 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R9134:Fam184a
|
UTSW |
10 |
53,697,248 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9373:Fam184a
|
UTSW |
10 |
53,690,019 (GRCm38) |
missense |
probably benign |
|
|
R9614:Fam184a
|
UTSW |
10 |
53,641,048 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9644:Fam184a
|
UTSW |
10 |
53,697,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9706:Fam184a
|
UTSW |
10 |
53,699,153 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9787:Fam184a
|
UTSW |
10 |
53,750,768 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
Z1177:Fam184a
|
UTSW |
10 |
53,699,086 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAAGAAACCCTAGATGGCCC -3'
(R):5'- GTTGAAGTCACAGCAGAACCAC -3'
Sequencing Primer
(F):5'- TAGATGGCCCACCTCTCAC -3'
(R):5'- GAGGCCTTGAACAACACGGTC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation