Incidental Mutation 'R3407:Inka1'
| ID |
258327 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inka1
|
| Ensembl Gene |
ENSMUSG00000042106 |
| Gene Name |
inka box actin regulator 1 |
| Synonyms |
Fam212a, 6230427J02Rik, Inka1 |
| MMRRC Submission |
040625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R3407 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
107861422-107863078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 107862253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 23
(R23Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035216]
[ENSMUST00000048568]
[ENSMUST00000175914]
[ENSMUST00000177368]
[ENSMUST00000177392]
|
| AlphaFold |
Q9CX62 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035216
|
| SMART Domains |
Protein: ENSMUSP00000035216
Gene: ENSMUSG00000032596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
6 |
401 |
1.2e-33 |
PFAM |
|
Pfam:E1_FCCH
|
178 |
249 |
1.1e-26 |
PFAM |
|
Pfam:E1_4HB
|
250 |
318 |
2.5e-22 |
PFAM |
|
internal_repeat_1
|
402 |
510 |
8.05e-5 |
PROSPERO |
|
Pfam:UBA_e1_thiolCys
|
592 |
808 |
1.3e-50 |
PFAM |
|
UBA_e1_C
|
846 |
973 |
4.63e-65 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048568
AA Change: R21Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040433
Gene: ENSMUSG00000042106
AA Change: R21Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
52 |
73 |
N/A |
INTRINSIC |
|
Pfam:FAM212
|
146 |
201 |
1.7e-30 |
PFAM |
|
low complexity region
|
228 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000075082
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158330
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000175914
AA Change: R23Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134980
Gene: ENSMUSG00000042106
AA Change: R23Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
75 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176166
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176340
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176673
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176478
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177494
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176858
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177368
|
| SMART Domains |
Protein: ENSMUSP00000135553
Gene: ENSMUSG00000079323
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:UBA_e1_C
|
1 |
39 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177039
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177392
|
| SMART Domains |
Protein: ENSMUSP00000134910
Gene: ENSMUSG00000032596
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
22 |
153 |
1.2e-18 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: A small percentage of homozygous null mice display exencephaly. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrg4 |
A |
T |
X: 56,013,487 (GRCm39) |
I2838F |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,621,962 (GRCm39) |
V150I |
probably damaging |
Het |
| Ambra1 |
T |
C |
2: 91,740,652 (GRCm39) |
S924P |
probably damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,206,808 (GRCm39) |
D260G |
probably benign |
Het |
| Bag3 |
AAAGG |
AAAGGAAGG |
7: 128,147,493 (GRCm39) |
|
probably null |
Het |
| Bag3 |
TAAAG |
TAAAGAAAG |
7: 128,147,492 (GRCm39) |
|
probably null |
Het |
| Cacnb3 |
T |
C |
15: 98,539,068 (GRCm39) |
V167A |
probably benign |
Het |
| Carm1 |
C |
T |
9: 21,497,478 (GRCm39) |
R347W |
probably damaging |
Het |
| Ccdc30 |
A |
T |
4: 119,181,778 (GRCm39) |
F577I |
possibly damaging |
Het |
| Ces3a |
T |
A |
8: 105,777,199 (GRCm39) |
V174E |
probably damaging |
Het |
| Cobl |
T |
C |
11: 12,325,830 (GRCm39) |
Y215C |
probably damaging |
Het |
| Cybrd1 |
A |
T |
2: 70,948,470 (GRCm39) |
M3L |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,336,212 (GRCm39) |
V98A |
probably benign |
Het |
| Dsg1c |
G |
A |
18: 20,415,115 (GRCm39) |
|
probably null |
Het |
| Eif4a1 |
A |
T |
11: 69,561,089 (GRCm39) |
V72E |
probably damaging |
Het |
| Fmn1 |
A |
T |
2: 113,195,400 (GRCm39) |
I367F |
unknown |
Het |
| Fnbp1l |
A |
C |
3: 122,345,799 (GRCm39) |
W229G |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,934,386 (GRCm39) |
I707K |
probably benign |
Het |
| Ipo8 |
T |
C |
6: 148,723,207 (GRCm39) |
D70G |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,927,900 (GRCm39) |
L1014P |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,348,208 (GRCm39) |
L677P |
probably damaging |
Het |
| Mbd1 |
A |
G |
18: 74,410,438 (GRCm39) |
K414E |
possibly damaging |
Het |
| Mfsd1 |
T |
A |
3: 67,504,046 (GRCm39) |
M346K |
possibly damaging |
Het |
| Mthfr |
T |
C |
4: 148,139,518 (GRCm39) |
I66T |
probably damaging |
Het |
| Myh10 |
T |
G |
11: 68,681,037 (GRCm39) |
L989R |
possibly damaging |
Het |
| Ncan |
G |
A |
8: 70,564,801 (GRCm39) |
T271I |
probably damaging |
Het |
| Or10ag53 |
A |
C |
2: 87,083,243 (GRCm39) |
T321P |
probably benign |
Het |
| Or9s23 |
A |
G |
1: 92,501,675 (GRCm39) |
T261A |
probably damaging |
Het |
| Pate2 |
C |
T |
9: 35,582,262 (GRCm39) |
T80I |
probably damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,442 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,661,784 (GRCm39) |
L640F |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,606,768 (GRCm39) |
|
probably benign |
Het |
| Pus3 |
C |
T |
9: 35,478,021 (GRCm39) |
R418C |
probably damaging |
Het |
| Sall2 |
G |
T |
14: 52,565,561 (GRCm39) |
N24K |
probably benign |
Het |
| Sh3bp4 |
G |
T |
1: 89,072,769 (GRCm39) |
C539F |
possibly damaging |
Het |
| Smco3 |
A |
G |
6: 136,808,425 (GRCm39) |
S150P |
probably benign |
Het |
| Spag17 |
G |
T |
3: 99,992,615 (GRCm39) |
A1704S |
probably benign |
Het |
| Tecta |
A |
T |
9: 42,249,150 (GRCm39) |
I1904N |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,536,281 (GRCm39) |
K33280* |
probably null |
Het |
| Uggt2 |
T |
C |
14: 119,328,682 (GRCm39) |
D90G |
probably benign |
Het |
| Vmn1r21 |
C |
T |
6: 57,820,877 (GRCm39) |
G189D |
probably damaging |
Het |
| Zbtb10 |
A |
G |
3: 9,329,926 (GRCm39) |
N428S |
probably damaging |
Het |
| Zfp407 |
G |
A |
18: 84,576,997 (GRCm39) |
A1372V |
probably benign |
Het |
|
| Other mutations in Inka1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02088:Inka1
|
APN |
9 |
107,861,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1803:Inka1
|
UTSW |
9 |
107,861,938 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2860:Inka1
|
UTSW |
9 |
107,861,603 (GRCm39) |
missense |
probably benign |
|
|
R2861:Inka1
|
UTSW |
9 |
107,861,603 (GRCm39) |
missense |
probably benign |
|
|
R7387:Inka1
|
UTSW |
9 |
107,861,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7914:Inka1
|
UTSW |
9 |
107,862,761 (GRCm39) |
unclassified |
probably benign |
|
|
R8315:Inka1
|
UTSW |
9 |
107,861,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Inka1
|
UTSW |
9 |
107,861,938 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9505:Inka1
|
UTSW |
9 |
107,862,092 (GRCm39) |
nonsense |
probably null |
|
|
R9563:Inka1
|
UTSW |
9 |
107,861,488 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9565:Inka1
|
UTSW |
9 |
107,861,488 (GRCm39) |
missense |
probably benign |
0.33 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACATCCCAAGGGTAAACC -3'
(R):5'- CCTAAAGAAGTGCTGTGCTGC -3'
Sequencing Primer
(F):5'- GTAAACCCTTGTCTTCTGCTACCAAG -3'
(R):5'- CTGTGCTGCTGTGGACATCC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation