Incidental Mutation 'R5042:Fndc7'
| ID |
393239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
042632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5042 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108770102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 608
(V608D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000051172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053065
AA Change: V608D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: V608D
| 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 damaging
Transcript: ENSMUST00000102620
AA Change: V694D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: V694D
| 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 |
noncoding transcript
Transcript: ENSMUST00000123018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151713
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180063
AA Change: V694D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: V694D
| 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 |
0.3246 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
| 4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
| Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
| Art5 |
A |
T |
7: 101,748,672 (GRCm39) |
L10H |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
| Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,949,419 (GRCm39) |
M1K |
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,998 (GRCm39) |
V229E |
probably damaging |
Het |
| Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
| Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
| Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
| Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
| Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
| Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,936,767 (GRCm39) |
T113A |
probably benign |
Het |
| St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
| Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
| Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
| Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
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 |
|
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 |
|
R6999: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'- AACTCTGTAGACCAGGCTGG -3'
(R):5'- CTATAGGTGTCTGTTGCCCAC -3'
Sequencing Primer
(F):5'- GCTGGCCTCGAACTCAGAAATC -3'
(R):5'- CCACTGGGGGTCAAATTATATAGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation