Incidental Mutation 'R6999:Fndc7'
| ID |
544383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
045104-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108783964 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 215
(A215V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053065
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
Blast:FN3
|
201 |
274 |
9e-44 |
BLAST |
|
FN3
|
283 |
360 |
1.07e-1 |
SMART |
|
FN3
|
457 |
530 |
5.1e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102620
AA Change: A215V
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: A215V
| Domain | Start | End | E-Value | Type |
|---|
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
FN3
|
201 |
275 |
2.44e-5 |
SMART |
|
Blast:FN3
|
287 |
360 |
1e-43 |
BLAST |
|
FN3
|
369 |
446 |
1.07e-1 |
SMART |
|
FN3
|
543 |
616 |
5.1e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180063
AA Change: A215V
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: A215V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
FN3
|
29 |
102 |
2.62e-5 |
SMART |
|
FN3
|
113 |
189 |
1.31e-5 |
SMART |
|
FN3
|
201 |
275 |
2.44e-5 |
SMART |
|
Blast:FN3
|
287 |
360 |
2e-43 |
BLAST |
|
FN3
|
369 |
446 |
1.07e-1 |
SMART |
|
FN3
|
543 |
616 |
5.1e1 |
SMART |
|
| Meta Mutation Damage Score |
0.1460 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
G |
A |
1: 71,356,321 (GRCm39) |
Q629* |
probably null |
Het |
| Acss3 |
C |
A |
10: 106,889,362 (GRCm39) |
G153C |
probably damaging |
Het |
| Alpk2 |
A |
G |
18: 65,437,584 (GRCm39) |
S1270P |
probably damaging |
Het |
| Ankrd10 |
A |
T |
8: 11,669,106 (GRCm39) |
L215Q |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,823,459 (GRCm39) |
S188P |
probably benign |
Het |
| Brinp2 |
A |
G |
1: 158,078,875 (GRCm39) |
M316T |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,990,632 (GRCm39) |
S1707P |
probably benign |
Het |
| C2cd4b |
C |
T |
9: 67,667,571 (GRCm39) |
A189V |
probably benign |
Het |
| Camk2b |
C |
T |
11: 5,922,321 (GRCm39) |
R556H |
probably damaging |
Het |
| Cfap126 |
A |
G |
1: 170,953,733 (GRCm39) |
D101G |
possibly damaging |
Het |
| Chd5 |
A |
T |
4: 152,458,891 (GRCm39) |
I1085F |
probably damaging |
Het |
| Chp2 |
A |
G |
7: 121,821,092 (GRCm39) |
E151G |
probably damaging |
Het |
| Chrd |
A |
G |
16: 20,554,402 (GRCm39) |
T370A |
probably benign |
Het |
| Chrnb2 |
C |
T |
3: 89,668,622 (GRCm39) |
R231H |
possibly damaging |
Het |
| Crisp4 |
T |
A |
1: 18,207,259 (GRCm39) |
I10F |
possibly damaging |
Het |
| Csnka2ip |
T |
A |
16: 64,298,933 (GRCm39) |
H477L |
unknown |
Het |
| Ctu1 |
T |
A |
7: 43,324,662 (GRCm39) |
F34I |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,168,263 (GRCm39) |
S407T |
possibly damaging |
Het |
| Ech1 |
T |
C |
7: 28,529,689 (GRCm39) |
F191L |
probably benign |
Het |
| Enpp3 |
T |
C |
10: 24,684,064 (GRCm39) |
D60G |
probably damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,533 (GRCm39) |
Y222C |
possibly damaging |
Het |
| Eppk1 |
A |
T |
15: 75,993,423 (GRCm39) |
W1153R |
probably benign |
Het |
| Fbxo4 |
C |
T |
15: 4,007,437 (GRCm39) |
D76N |
probably damaging |
Het |
| Gemin5 |
C |
T |
11: 58,015,947 (GRCm39) |
R1352Q |
probably benign |
Het |
| Gm9639 |
T |
C |
10: 77,630,525 (GRCm39) |
|
probably benign |
Het |
| Gm973 |
C |
A |
1: 59,673,251 (GRCm39) |
Q160K |
unknown |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grid2 |
A |
T |
6: 64,053,893 (GRCm39) |
Q364L |
possibly damaging |
Het |
| Kcnn2 |
T |
G |
18: 45,725,444 (GRCm39) |
S313R |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,444,814 (GRCm39) |
Y58H |
probably damaging |
Het |
| Meiosin |
A |
G |
7: 18,836,300 (GRCm39) |
|
probably benign |
Het |
| Mtfr2 |
T |
C |
10: 20,229,862 (GRCm39) |
L105P |
probably benign |
Het |
| Myom2 |
A |
G |
8: 15,134,531 (GRCm39) |
T445A |
probably benign |
Het |
| Or2o1 |
A |
G |
11: 49,051,239 (GRCm39) |
R133G |
possibly damaging |
Het |
| Or8b1c |
T |
A |
9: 38,384,535 (GRCm39) |
L164Q |
probably damaging |
Het |
| Pcdha12 |
T |
C |
18: 37,153,329 (GRCm39) |
L16P |
probably benign |
Het |
| Pcdhb10 |
T |
C |
18: 37,546,171 (GRCm39) |
Y416H |
probably damaging |
Het |
| Pde8b |
T |
C |
13: 95,223,342 (GRCm39) |
Y304C |
possibly damaging |
Het |
| Pkd1 |
T |
C |
17: 24,797,475 (GRCm39) |
I2605T |
possibly damaging |
Het |
| Pnn |
T |
C |
12: 59,117,085 (GRCm39) |
|
probably null |
Het |
| Ppa1 |
G |
A |
10: 61,496,796 (GRCm39) |
G95S |
probably damaging |
Het |
| Rapgef4 |
G |
T |
2: 72,069,469 (GRCm39) |
A730S |
probably damaging |
Het |
| Scap |
A |
G |
9: 110,213,715 (GRCm39) |
Y1226C |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,512,453 (GRCm39) |
T197S |
probably benign |
Het |
| Slc2a6 |
GCTTCC |
GC |
2: 26,916,047 (GRCm39) |
|
probably null |
Het |
| Slc8a3 |
T |
C |
12: 81,361,529 (GRCm39) |
Y430C |
probably benign |
Het |
| Tead3 |
T |
C |
17: 28,560,506 (GRCm39) |
T33A |
probably benign |
Het |
| Tep1 |
T |
A |
14: 51,088,162 (GRCm39) |
I792F |
possibly damaging |
Het |
| Trpm2 |
A |
T |
10: 77,771,725 (GRCm39) |
I638N |
probably damaging |
Het |
| Tuba1c |
A |
G |
15: 98,935,193 (GRCm39) |
D218G |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,022,778 (GRCm39) |
W495R |
probably damaging |
Het |
| Tut1 |
T |
C |
19: 8,943,382 (GRCm39) |
L823P |
probably damaging |
Het |
| Ube2q2l |
T |
C |
6: 136,378,272 (GRCm39) |
N186S |
probably benign |
Het |
| Umodl1 |
C |
T |
17: 31,218,097 (GRCm39) |
A1228V |
probably damaging |
Het |
| Vmn1r235 |
T |
A |
17: 21,482,127 (GRCm39) |
F151I |
probably benign |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,219 (GRCm39) |
K356N |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,710,969 (GRCm39) |
N897K |
probably damaging |
Het |
|
| Other mutations in Fndc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02077:Fndc7
|
APN |
3 |
108,790,784 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02823:Fndc7
|
APN |
3 |
108,776,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02896:Fndc7
|
APN |
3 |
108,770,247 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03196:Fndc7
|
APN |
3 |
108,790,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03343:Fndc7
|
APN |
3 |
108,774,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03377:Fndc7
|
APN |
3 |
108,783,848 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0240:Fndc7
|
UTSW |
3 |
108,766,235 (GRCm39) |
splice site |
probably benign |
|
|
R0324:Fndc7
|
UTSW |
3 |
108,784,015 (GRCm39) |
splice site |
probably null |
|
|
R0457:Fndc7
|
UTSW |
3 |
108,783,861 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0630:Fndc7
|
UTSW |
3 |
108,783,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0891:Fndc7
|
UTSW |
3 |
108,777,904 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R1752:Fndc7
|
UTSW |
3 |
108,776,646 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1772:Fndc7
|
UTSW |
3 |
108,777,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1923:Fndc7
|
UTSW |
3 |
108,784,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Fndc7
|
UTSW |
3 |
108,790,825 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3801:Fndc7
|
UTSW |
3 |
108,776,464 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4592:Fndc7
|
UTSW |
3 |
108,766,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Fndc7
|
UTSW |
3 |
108,770,135 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4652:Fndc7
|
UTSW |
3 |
108,770,135 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4791:Fndc7
|
UTSW |
3 |
108,783,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4933:Fndc7
|
UTSW |
3 |
108,783,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5004:Fndc7
|
UTSW |
3 |
108,790,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5042:Fndc7
|
UTSW |
3 |
108,770,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Fndc7
|
UTSW |
3 |
108,788,663 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5175:Fndc7
|
UTSW |
3 |
108,776,482 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5325:Fndc7
|
UTSW |
3 |
108,790,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5571:Fndc7
|
UTSW |
3 |
108,763,724 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5638:Fndc7
|
UTSW |
3 |
108,770,208 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5846:Fndc7
|
UTSW |
3 |
108,788,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Fndc7
|
UTSW |
3 |
108,777,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6737:Fndc7
|
UTSW |
3 |
108,779,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6993:Fndc7
|
UTSW |
3 |
108,783,907 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6998:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7000:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7001:Fndc7
|
UTSW |
3 |
108,783,964 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7181:Fndc7
|
UTSW |
3 |
108,788,640 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7324:Fndc7
|
UTSW |
3 |
108,779,537 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7425:Fndc7
|
UTSW |
3 |
108,783,975 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7631:Fndc7
|
UTSW |
3 |
108,776,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Fndc7
|
UTSW |
3 |
108,770,129 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7713:Fndc7
|
UTSW |
3 |
108,777,979 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7909:Fndc7
|
UTSW |
3 |
108,770,232 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7946:Fndc7
|
UTSW |
3 |
108,779,452 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8023:Fndc7
|
UTSW |
3 |
108,774,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8694:Fndc7
|
UTSW |
3 |
108,779,622 (GRCm39) |
nonsense |
probably null |
|
|
R8708:Fndc7
|
UTSW |
3 |
108,774,528 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9325:Fndc7
|
UTSW |
3 |
108,790,834 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9608:Fndc7
|
UTSW |
3 |
108,774,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Fndc7
|
UTSW |
3 |
108,790,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGTGCAGAGCAGGACTTG -3'
(R):5'- CAGCAATGGCCATGAGGTTATC -3'
Sequencing Primer
(F):5'- AGGACTTGCTGGACCCAG -3'
(R):5'- GCAATGGCCATGAGGTTATCAATCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation