Incidental Mutation 'R6472:4932438H23Rik'
| ID |
516397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4932438H23Rik
|
| Ensembl Gene |
ENSMUSG00000039851 |
| Gene Name |
RIKEN cDNA 4932438H23 gene |
| Synonyms |
|
| MMRRC Submission |
044605-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6472 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90841534-90866040 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90852891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 82
(S82T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122640
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035689]
[ENSMUST00000114076]
[ENSMUST00000146047]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035689
AA Change: S82T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000040111
Gene: ENSMUSG00000039851
AA Change: S82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4571
|
19 |
230 |
8.6e-115 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114076
AA Change: S82T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109710
Gene: ENSMUSG00000039851
AA Change: S82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4571
|
20 |
230 |
2.2e-103 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146047
AA Change: S82T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000122640
Gene: ENSMUSG00000039851
AA Change: S82T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4571
|
19 |
136 |
4.1e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147848
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.3%
- 20x: 94.4%
|
| Validation Efficiency |
100% (30/30) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,085,991 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
C |
10: 50,596,783 (GRCm39) |
Y1238H |
probably benign |
Het |
| Ccn3 |
A |
T |
15: 54,612,668 (GRCm39) |
T226S |
possibly damaging |
Het |
| Cdadc1 |
T |
C |
14: 59,823,491 (GRCm39) |
T334A |
probably damaging |
Het |
| Csrp3 |
G |
A |
7: 48,485,356 (GRCm39) |
T47I |
possibly damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,649 (GRCm39) |
R173H |
probably damaging |
Het |
| Fads6 |
T |
C |
11: 115,176,962 (GRCm39) |
T165A |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,975 (GRCm39) |
S566P |
probably damaging |
Het |
| Gsn |
A |
G |
2: 35,180,463 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
A |
G |
13: 12,449,111 (GRCm39) |
D1897G |
probably benign |
Het |
| Il2ra |
G |
A |
2: 11,686,780 (GRCm39) |
E204K |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,541,868 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Odr4 |
C |
T |
1: 150,257,273 (GRCm39) |
D230N |
probably benign |
Het |
| Or2a20 |
A |
G |
6: 43,194,293 (GRCm39) |
I149V |
probably benign |
Het |
| Or2aa1 |
G |
A |
11: 59,480,582 (GRCm39) |
T111I |
probably benign |
Het |
| Or7g22 |
T |
A |
9: 19,048,711 (GRCm39) |
C141S |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,534 (GRCm39) |
L184* |
probably null |
Het |
| Pappa2 |
T |
C |
1: 158,662,369 (GRCm39) |
D1202G |
probably damaging |
Het |
| Pcp4l1 |
A |
T |
1: 171,002,004 (GRCm39) |
I52N |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,846,067 (GRCm39) |
W665* |
probably null |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Snrpb2 |
A |
G |
2: 142,910,221 (GRCm39) |
K93R |
possibly damaging |
Het |
| Syt10 |
T |
G |
15: 89,698,761 (GRCm39) |
E194D |
probably benign |
Het |
| Tmem163 |
A |
C |
1: 127,423,471 (GRCm39) |
F264V |
probably benign |
Het |
| Trav3-1 |
G |
T |
14: 52,818,507 (GRCm39) |
E60D |
possibly damaging |
Het |
| Vmn1r237 |
G |
A |
17: 21,534,616 (GRCm39) |
S113N |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,246,610 (GRCm39) |
S651P |
possibly damaging |
Het |
| Wnt3 |
G |
A |
11: 103,699,100 (GRCm39) |
V69I |
possibly damaging |
Het |
|
| Other mutations in 4932438H23Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00686:4932438H23Rik
|
APN |
16 |
90,852,489 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01934:4932438H23Rik
|
APN |
16 |
90,852,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:4932438H23Rik
|
APN |
16 |
90,852,603 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02244:4932438H23Rik
|
APN |
16 |
90,853,085 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02623:4932438H23Rik
|
APN |
16 |
90,853,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4810001:4932438H23Rik
|
UTSW |
16 |
90,852,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0135:4932438H23Rik
|
UTSW |
16 |
90,852,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0932:4932438H23Rik
|
UTSW |
16 |
90,852,995 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4591:4932438H23Rik
|
UTSW |
16 |
90,852,959 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6513:4932438H23Rik
|
UTSW |
16 |
90,852,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7067:4932438H23Rik
|
UTSW |
16 |
90,852,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:4932438H23Rik
|
UTSW |
16 |
90,852,744 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8369:4932438H23Rik
|
UTSW |
16 |
90,852,657 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8469:4932438H23Rik
|
UTSW |
16 |
90,852,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8508:4932438H23Rik
|
UTSW |
16 |
90,852,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8680:4932438H23Rik
|
UTSW |
16 |
90,852,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:4932438H23Rik
|
UTSW |
16 |
90,852,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9166:4932438H23Rik
|
UTSW |
16 |
90,853,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9335:4932438H23Rik
|
UTSW |
16 |
90,852,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:4932438H23Rik
|
UTSW |
16 |
90,853,096 (GRCm39) |
missense |
probably benign |
0.23 |
|
Z1088:4932438H23Rik
|
UTSW |
16 |
90,852,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTTAGTATGGATGCGAAG -3'
(R):5'- TGCTGGACAAGAATGACATCAC -3'
Sequencing Primer
(F):5'- GCCTCTGCAGCCCACAGATAG -3'
(R):5'- GAATGACATCACCTTCCAGCTTCTG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation