Incidental Mutation 'R9669:Igkv10-96'
| ID |
727971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igkv10-96
|
| Ensembl Gene |
ENSMUSG00000094420 |
| Gene Name |
immunoglobulin kappa variable 10-96 |
| Synonyms |
Gm16637 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R9669 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
68608949-68609414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 68608957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 113
(T113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103328]
|
| AlphaFold |
A0A140T8M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103328
AA Change: T113A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000100129
Gene: ENSMUSG00000094420
AA Change: T113A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
13 |
N/A |
INTRINSIC |
|
IGv
|
38 |
110 |
1.94e-19 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adnp |
T |
C |
2: 168,026,918 (GRCm39) |
K126E |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,587,797 (GRCm39) |
N112S |
probably damaging |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Ccnjl |
C |
A |
11: 43,476,166 (GRCm39) |
T263K |
probably benign |
Het |
| Cfhr4 |
A |
T |
1: 139,708,872 (GRCm39) |
I12N |
probably damaging |
Het |
| Cox4i2 |
C |
A |
2: 152,602,610 (GRCm39) |
N101K |
probably damaging |
Het |
| D6Ertd527e |
G |
C |
6: 87,088,839 (GRCm39) |
S334T |
unknown |
Het |
| Dhx57 |
T |
C |
17: 80,553,130 (GRCm39) |
I1266V |
probably benign |
Het |
| Gm19410 |
A |
G |
8: 36,247,493 (GRCm39) |
D435G |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,408,794 (GRCm39) |
Y702H |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,259,339 (GRCm39) |
K161R |
possibly damaging |
Het |
| Or7d9 |
T |
A |
9: 20,197,160 (GRCm39) |
L63H |
probably damaging |
Het |
| Pabpc4l |
A |
G |
3: 46,401,267 (GRCm39) |
S126P |
probably damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,949,241 (GRCm39) |
D219G |
probably damaging |
Het |
| Plek |
A |
G |
11: 16,944,775 (GRCm39) |
F85S |
probably benign |
Het |
| Sidt1 |
A |
G |
16: 44,102,243 (GRCm39) |
Y306H |
probably damaging |
Het |
| Trav13-1 |
A |
T |
14: 53,782,510 (GRCm39) |
T14S |
probably benign |
Het |
| Tst |
T |
C |
15: 78,289,853 (GRCm39) |
I61V |
probably benign |
Het |
| Txndc2 |
T |
C |
17: 65,945,583 (GRCm39) |
E198G |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,268,499 (GRCm39) |
I910V |
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,656,007 (GRCm39) |
V784A |
probably damaging |
Het |
| Zkscan5 |
A |
G |
5: 145,142,136 (GRCm39) |
H11R |
probably benign |
Het |
|
| Other mutations in Igkv10-96 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01456:Igkv10-96
|
APN |
6 |
68,609,086 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1555:Igkv10-96
|
UTSW |
6 |
68,609,365 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R4347:Igkv10-96
|
UTSW |
6 |
68,609,164 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5229:Igkv10-96
|
UTSW |
6 |
68,609,223 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6396:Igkv10-96
|
UTSW |
6 |
68,608,969 (GRCm39) |
nonsense |
probably null |
|
|
R6623:Igkv10-96
|
UTSW |
6 |
68,609,158 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7183:Igkv10-96
|
UTSW |
6 |
68,609,200 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7194:Igkv10-96
|
UTSW |
6 |
68,609,028 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7866:Igkv10-96
|
UTSW |
6 |
68,609,025 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8325:Igkv10-96
|
UTSW |
6 |
68,609,088 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9678:Igkv10-96
|
UTSW |
6 |
68,609,224 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9737:Igkv10-96
|
UTSW |
6 |
68,608,957 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGCATTGGTACTCATGAAG -3'
(R):5'- GGGCAAGTCAGGACATTAGC -3'
Sequencing Primer
(F):5'- CATTGGTACTCATGAAGGGGAAG -3'
(R):5'- GCAATTATTTAAACTGGTATCAGCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation