Incidental Mutation 'PIT4802001:Fam184a'
| ID |
556741 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam184a
|
| Ensembl Gene |
ENSMUSG00000019856 |
| Gene Name |
family with sequence similarity 184, member A |
| Synonyms |
3110012E06Rik, 4930589M24Rik, 4930438C08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
PIT4802001 (G1)
|
| Quality Score |
133.008 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
53509241-53627219 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 53560450 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 515
(L515*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020003
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020003]
[ENSMUST00000163761]
[ENSMUST00000171807]
|
| AlphaFold |
E9PW83 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020003
AA Change: L515*
|
| SMART Domains |
Protein: ENSMUSP00000020003
Gene: ENSMUSG00000019856
AA Change: L515*
| 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 null
Transcript: ENSMUST00000163761
AA Change: L459*
|
| SMART Domains |
Protein: ENSMUSP00000127400
Gene: ENSMUSG00000019856
AA Change: L459*
| 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 null
Transcript: ENSMUST00000171807
AA Change: L111*
|
| SMART Domains |
Protein: ENSMUSP00000130315
Gene: ENSMUSG00000019856
AA Change: L111*
| 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: 93.6%
- 3x: 91.0%
- 10x: 85.4%
- 20x: 73.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted, other(2) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
T |
11: 119,902,172 (GRCm39) |
D741E |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,139,351 (GRCm39) |
D1461G |
probably benign |
Het |
| Adam6a |
G |
T |
12: 113,509,078 (GRCm39) |
D484Y |
probably damaging |
Het |
| Akap5 |
T |
C |
12: 76,376,706 (GRCm39) |
Y713H |
probably damaging |
Het |
| AW554918 |
A |
G |
18: 25,473,132 (GRCm39) |
E312G |
possibly damaging |
Het |
| Car4 |
G |
A |
11: 84,855,231 (GRCm39) |
A157T |
probably damaging |
Het |
| Chst9 |
A |
T |
18: 15,585,849 (GRCm39) |
M238K |
probably benign |
Het |
| Ctbp2 |
G |
A |
7: 132,589,974 (GRCm39) |
H397Y |
possibly damaging |
Het |
| Cyp3a59 |
A |
G |
5: 146,039,611 (GRCm39) |
M295V |
probably benign |
Het |
| Daglb |
T |
C |
5: 143,488,803 (GRCm39) |
Y586H |
probably benign |
Het |
| Ehbp1l1 |
G |
T |
19: 5,769,603 (GRCm39) |
P567T |
possibly damaging |
Het |
| Emilin2 |
A |
G |
17: 71,580,464 (GRCm39) |
I754T |
probably damaging |
Het |
| Esyt2 |
G |
A |
12: 116,329,457 (GRCm39) |
A672T |
probably benign |
Het |
| Evx1 |
G |
T |
6: 52,291,175 (GRCm39) |
E116* |
probably null |
Het |
| Exph5 |
T |
C |
9: 53,286,278 (GRCm39) |
S1120P |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,523,996 (GRCm39) |
D525E |
probably benign |
Het |
| Galt |
T |
C |
4: 41,756,764 (GRCm39) |
W135R |
probably damaging |
Het |
| Ifitm6 |
A |
T |
7: 140,596,648 (GRCm39) |
C42S |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,610 (GRCm39) |
S186P |
probably benign |
Het |
| Kcnk3 |
A |
G |
5: 30,779,712 (GRCm39) |
E254G |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,278,996 (GRCm39) |
S1509P |
probably damaging |
Het |
| Ky |
T |
A |
9: 102,414,972 (GRCm39) |
S295T |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,571,801 (GRCm39) |
Y2368* |
probably null |
Het |
| Mtmr4 |
T |
A |
11: 87,501,953 (GRCm39) |
V669E |
probably benign |
Het |
| Myh10 |
C |
T |
11: 68,655,918 (GRCm39) |
R471C |
probably damaging |
Het |
| Nav1 |
G |
A |
1: 135,380,671 (GRCm39) |
T1416I |
unknown |
Het |
| Nrip1 |
A |
C |
16: 76,090,157 (GRCm39) |
S467A |
probably damaging |
Het |
| Ntrk1 |
T |
A |
3: 87,695,941 (GRCm39) |
N190Y |
probably damaging |
Het |
| Or14a256 |
A |
T |
7: 86,265,763 (GRCm39) |
L30Q |
probably null |
Het |
| Or5h25 |
A |
C |
16: 58,930,964 (GRCm39) |
M3R |
probably benign |
Het |
| Pdxp |
A |
G |
15: 78,802,611 (GRCm39) |
S282G |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,904 (GRCm39) |
S220T |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,157,540 (GRCm39) |
V2390E |
probably damaging |
Het |
| Pop1 |
T |
G |
15: 34,529,229 (GRCm39) |
L783R |
probably benign |
Het |
| Prf1 |
G |
A |
10: 61,135,972 (GRCm39) |
A83T |
probably benign |
Het |
| Rab4b |
A |
G |
7: 26,875,267 (GRCm39) |
V50A |
probably benign |
Het |
| Rtn1 |
T |
A |
12: 72,351,100 (GRCm39) |
T370S |
probably benign |
Het |
| Sdr16c5 |
T |
A |
4: 4,012,423 (GRCm39) |
I123F |
probably damaging |
Het |
| Smg6 |
T |
A |
11: 75,046,991 (GRCm39) |
V1228D |
probably damaging |
Het |
| Smim19 |
A |
G |
8: 22,963,539 (GRCm39) |
V23A |
probably benign |
Het |
| Sox13 |
A |
T |
1: 133,313,996 (GRCm39) |
I346N |
probably damaging |
Het |
| Tap1 |
T |
A |
17: 34,412,165 (GRCm39) |
Y457N |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,458,427 (GRCm39) |
P686S |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,965,010 (GRCm39) |
S570P |
unknown |
Het |
| Tmc5 |
A |
T |
7: 118,271,449 (GRCm39) |
M921L |
probably benign |
Het |
| Ttc6 |
A |
G |
12: 57,772,462 (GRCm39) |
Y1594C |
possibly damaging |
Het |
| Virma |
T |
A |
4: 11,546,008 (GRCm39) |
H1615Q |
probably damaging |
Het |
| Vmn1r19 |
T |
A |
6: 57,382,037 (GRCm39) |
Y197N |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,845,068 (GRCm39) |
F2051L |
probably damaging |
Het |
| Wdr6 |
C |
T |
9: 108,451,765 (GRCm39) |
C706Y |
probably damaging |
Het |
| Zfand4 |
A |
G |
6: 116,261,736 (GRCm39) |
N100D |
probably damaging |
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 |
|
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 |
|
|
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'- GCGCTGGCATCAGATTAAGTTAC -3'
(R):5'- TTAGCCAGTCAAACACTCTTACG -3'
Sequencing Primer
(F):5'- GCTGGCATCAGATTAAGTTACTACAG -3'
(R):5'- ACGACTAAAAGCATTACCTAATGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation