Incidental Mutation 'R6422:A430005L14Rik'
| ID |
518204 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
A430005L14Rik
|
| Ensembl Gene |
ENSMUSG00000047613 |
| Gene Name |
RIKEN cDNA A430005L14 gene |
| Synonyms |
|
| MMRRC Submission |
044563-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6422 (G1)
|
| Quality Score |
169.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154041694-154046382 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 154045381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 137
(F137I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121891
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030893]
[ENSMUST00000058393]
[ENSMUST00000105645]
[ENSMUST00000133607]
[ENSMUST00000141493]
[ENSMUST00000147826]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030893
|
| SMART Domains |
Protein: ENSMUSP00000030893
Gene: ENSMUSG00000029027
| Domain | Start | End | E-Value | Type |
|---|
|
CAD
|
9 |
81 |
2.48e-41 |
SMART |
|
Pfam:DFF40
|
103 |
324 |
9.4e-97 |
PFAM |
|
low complexity region
|
330 |
344 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058393
AA Change: F175I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054638
Gene: ENSMUSG00000047613
AA Change: F175I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0688
|
6 |
228 |
9.9e-99 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105645
AA Change: F137I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133524
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133607
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139967
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141493
AA Change: F137I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147826
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 91.8%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,665,109 (GRCm39) |
K417R |
possibly damaging |
Het |
| Btbd9 |
G |
A |
17: 30,749,230 (GRCm39) |
A28V |
probably benign |
Het |
| Cabin1 |
A |
G |
10: 75,492,626 (GRCm39) |
Y1890H |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,549 (GRCm39) |
M170K |
probably benign |
Het |
| Cep162 |
G |
T |
9: 87,114,069 (GRCm39) |
N334K |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,167,876 (GRCm39) |
M634K |
possibly damaging |
Het |
| Col20a1 |
C |
A |
2: 180,656,612 (GRCm39) |
T1161N |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,096,892 (GRCm39) |
D1155E |
probably damaging |
Het |
| Dlst |
T |
A |
12: 85,177,659 (GRCm39) |
|
probably null |
Het |
| Dsc1 |
A |
C |
18: 20,228,090 (GRCm39) |
L422R |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,603 (GRCm39) |
W1699R |
probably damaging |
Het |
| Gm14443 |
G |
A |
2: 175,012,174 (GRCm39) |
Q91* |
probably null |
Het |
| Gm8159 |
T |
C |
14: 15,850,210 (GRCm39) |
I143T |
probably damaging |
Het |
| Il4i1 |
G |
T |
7: 44,489,560 (GRCm39) |
A442S |
probably damaging |
Het |
| Kif26a |
T |
G |
12: 112,135,309 (GRCm39) |
L337R |
possibly damaging |
Het |
| Lat2 |
T |
C |
5: 134,632,015 (GRCm39) |
D144G |
probably benign |
Het |
| Ndst1 |
G |
T |
18: 60,836,025 (GRCm39) |
H419Q |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,803,533 (GRCm39) |
I1484T |
probably benign |
Het |
| Or51v14 |
T |
G |
7: 103,261,221 (GRCm39) |
E113A |
probably damaging |
Het |
| Paxbp1 |
A |
T |
16: 90,820,332 (GRCm39) |
M697K |
probably benign |
Het |
| Plxnb1 |
A |
G |
9: 108,937,992 (GRCm39) |
Y1246C |
probably damaging |
Het |
| Prr5 |
C |
T |
15: 84,578,005 (GRCm39) |
R96C |
probably damaging |
Het |
| Ptpn7 |
G |
T |
1: 135,062,240 (GRCm39) |
C62F |
probably damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sall2 |
A |
C |
14: 52,550,181 (GRCm39) |
*1003G |
probably null |
Het |
| Slc5a4b |
C |
A |
10: 75,939,696 (GRCm39) |
V147F |
probably damaging |
Het |
| Snapc4 |
A |
G |
2: 26,258,315 (GRCm39) |
W702R |
probably benign |
Het |
| Tbc1d32 |
A |
T |
10: 55,904,157 (GRCm39) |
C1203* |
probably null |
Het |
| Tmprss11d |
T |
A |
5: 86,457,284 (GRCm39) |
Y125F |
probably damaging |
Het |
| Tpp1 |
G |
A |
7: 105,396,163 (GRCm39) |
T512I |
probably benign |
Het |
| Tyw5 |
G |
A |
1: 57,440,570 (GRCm39) |
A64V |
probably damaging |
Het |
|
| Other mutations in A430005L14Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01628:A430005L14Rik
|
APN |
4 |
154,045,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01916:A430005L14Rik
|
APN |
4 |
154,045,997 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02583:A430005L14Rik
|
APN |
4 |
154,045,392 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03055:A430005L14Rik
|
UTSW |
4 |
154,045,092 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1677:A430005L14Rik
|
UTSW |
4 |
154,045,357 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2001:A430005L14Rik
|
UTSW |
4 |
154,044,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:A430005L14Rik
|
UTSW |
4 |
154,044,284 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5396:A430005L14Rik
|
UTSW |
4 |
154,045,410 (GRCm39) |
frame shift |
probably null |
|
|
R7082:A430005L14Rik
|
UTSW |
4 |
154,044,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7092:A430005L14Rik
|
UTSW |
4 |
154,045,451 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7561:A430005L14Rik
|
UTSW |
4 |
154,045,097 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:A430005L14Rik
|
UTSW |
4 |
154,045,122 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTGAAAATAAGTTTGCGGAGG -3'
(R):5'- ACCTTGGTTTCGTGTACCATG -3'
Sequencing Primer
(F):5'- AGGCTGCTGTCTCTGTACCAG -3'
(R):5'- TACCATGGGTACACAATAGAGTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation