Incidental Mutation 'R1227:Fermt2'
| ID |
172420 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fermt2
|
| Ensembl Gene |
ENSMUSG00000037712 |
| Gene Name |
fermitin family member 2 |
| Synonyms |
Mig2, Plekhc1, Kindlin-2 |
| MMRRC Submission |
039296-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
45696252-45767575 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45697447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 635
(S635P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044554
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045905]
|
| AlphaFold |
Q8CIB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045905
AA Change: S635P
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000044554
Gene: ENSMUSG00000037712
AA Change: S635P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:B41
|
16 |
45 |
2e-9 |
BLAST |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
B41
|
93 |
573 |
5.09e-56 |
SMART |
|
PH
|
373 |
478 |
2.7e-10 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158144
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mice are embryonic lethal at or before E7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd42 |
T |
A |
7: 92,254,508 (GRCm39) |
H367L |
possibly damaging |
Het |
| Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
| Hnrnpul2 |
T |
G |
19: 8,800,601 (GRCm39) |
S226A |
possibly damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,496,670 (GRCm39) |
|
probably null |
Het |
| Nuak1 |
T |
A |
10: 84,276,173 (GRCm39) |
T17S |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
| Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
| Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,959,885 (GRCm39) |
W159R |
probably benign |
Het |
|
| Other mutations in Fermt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Fermt2
|
APN |
14 |
45,702,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01859:Fermt2
|
APN |
14 |
45,697,413 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02719:Fermt2
|
APN |
14 |
45,742,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03182:Fermt2
|
APN |
14 |
45,699,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
ANU18:Fermt2
|
UTSW |
14 |
45,702,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0107:Fermt2
|
UTSW |
14 |
45,702,279 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0671:Fermt2
|
UTSW |
14 |
45,706,776 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1172:Fermt2
|
UTSW |
14 |
45,697,425 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1480:Fermt2
|
UTSW |
14 |
45,699,244 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2219:Fermt2
|
UTSW |
14 |
45,713,354 (GRCm39) |
missense |
probably benign |
|
|
R2937:Fermt2
|
UTSW |
14 |
45,741,948 (GRCm39) |
splice site |
probably null |
|
|
R4765:Fermt2
|
UTSW |
14 |
45,699,693 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5921:Fermt2
|
UTSW |
14 |
45,702,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Fermt2
|
UTSW |
14 |
45,697,338 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6216:Fermt2
|
UTSW |
14 |
45,697,338 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6254:Fermt2
|
UTSW |
14 |
45,713,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6964:Fermt2
|
UTSW |
14 |
45,702,599 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7574:Fermt2
|
UTSW |
14 |
45,706,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7917:Fermt2
|
UTSW |
14 |
45,699,318 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8692:Fermt2
|
UTSW |
14 |
45,742,099 (GRCm39) |
nonsense |
probably null |
|
|
R8861:Fermt2
|
UTSW |
14 |
45,697,466 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8910:Fermt2
|
UTSW |
14 |
45,702,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8986:Fermt2
|
UTSW |
14 |
45,742,023 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATACGGCATATCAAGGTAGGCAGC -3'
(R):5'- CACTCGGGACCTTAACGACGTAAAC -3'
Sequencing Primer
(F):5'- CAGCAGATTAACAATCGTGCTTG -3'
(R):5'- CGTAAACGCCTTGAGAACTTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation