Incidental Mutation 'R7946:Fndc7'
| ID |
649341 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
045991-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7946 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108779452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 364
(D364V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053065
AA Change: D278V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: D278V
| 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 |
possibly damaging
Transcript: ENSMUST00000102620
AA Change: D364V
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: D364V
| 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 damaging
Transcript: ENSMUST00000180063
AA Change: D364V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: D364V
| 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 |
0.1481 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,398 (GRCm39) |
T1186A |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Afap1 |
A |
G |
5: 36,092,995 (GRCm39) |
N33S |
probably benign |
Het |
| Afap1 |
G |
A |
5: 36,141,396 (GRCm39) |
|
probably null |
Het |
| Ampd3 |
A |
G |
7: 110,377,147 (GRCm39) |
D46G |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,707 (GRCm39) |
K246R |
probably benign |
Het |
| Aqp9 |
C |
T |
9: 71,030,290 (GRCm39) |
V192M |
probably damaging |
Het |
| Aspscr1 |
T |
G |
11: 120,599,443 (GRCm39) |
S132A |
|
Het |
| Atp2b4 |
C |
A |
1: 133,658,320 (GRCm39) |
R530L |
probably damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,325 (GRCm39) |
V541A |
probably benign |
Het |
| Caprin1 |
A |
T |
2: 103,603,093 (GRCm39) |
V490E |
probably damaging |
Het |
| Ccdc7a |
T |
A |
8: 129,643,627 (GRCm39) |
K734M |
probably damaging |
Het |
| Ccdc9b |
G |
T |
2: 118,590,146 (GRCm39) |
P233T |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,812,882 (GRCm39) |
K138R |
probably benign |
Het |
| Cela2a |
A |
G |
4: 141,549,617 (GRCm39) |
S53P |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,513,075 (GRCm39) |
|
probably null |
Het |
| Cntrob |
T |
C |
11: 69,206,047 (GRCm39) |
E373G |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,414,058 (GRCm39) |
Y2633H |
|
Het |
| Ctbp1 |
A |
T |
5: 33,407,688 (GRCm39) |
M296K |
probably benign |
Het |
| Dido1 |
G |
T |
2: 180,303,501 (GRCm39) |
Q1468K |
possibly damaging |
Het |
| Dnah7b |
T |
C |
1: 46,272,739 (GRCm39) |
F2289S |
probably damaging |
Het |
| Ggt7 |
G |
T |
2: 155,347,892 (GRCm39) |
H180Q |
probably damaging |
Het |
| Gm14399 |
A |
T |
2: 174,973,273 (GRCm39) |
C161S |
probably damaging |
Het |
| Gm17324 |
T |
C |
9: 78,355,794 (GRCm39) |
T62A |
unknown |
Het |
| Gpr107 |
A |
G |
2: 31,078,716 (GRCm39) |
I384V |
probably damaging |
Het |
| Igsf10 |
C |
A |
3: 59,227,125 (GRCm39) |
V2183L |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,411,648 (GRCm39) |
H363L |
possibly damaging |
Het |
| Inka2 |
T |
A |
3: 105,623,761 (GRCm39) |
L45H |
probably damaging |
Het |
| Iqsec1 |
A |
T |
6: 90,667,252 (GRCm39) |
I291N |
probably damaging |
Het |
| Kcnc3 |
A |
T |
7: 44,245,569 (GRCm39) |
T620S |
probably benign |
Het |
| Kif2b |
T |
C |
11: 91,466,571 (GRCm39) |
N571D |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,766,072 (GRCm39) |
|
probably benign |
Het |
| Mgst2 |
A |
G |
3: 51,584,991 (GRCm39) |
N55S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,102,746 (GRCm39) |
D4509G |
probably damaging |
Het |
| Obox1 |
G |
T |
7: 15,289,456 (GRCm39) |
V82F |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,585,163 (GRCm39) |
M190L |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,053 (GRCm39) |
D179G |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,780 (GRCm39) |
S242P |
probably damaging |
Het |
| Pakap |
A |
T |
4: 57,710,045 (GRCm39) |
N330I |
probably damaging |
Het |
| Phf21a |
A |
T |
2: 92,189,512 (GRCm39) |
E590D |
probably damaging |
Het |
| Rai14 |
T |
C |
15: 10,574,287 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
T |
C |
9: 72,524,096 (GRCm39) |
Y429H |
probably damaging |
Het |
| Spata31d1d |
G |
T |
13: 59,878,606 (GRCm39) |
A77E |
probably benign |
Het |
| Stra8 |
A |
G |
6: 34,907,816 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,200,919 (GRCm39) |
S3550P |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,657,693 (GRCm39) |
H249Q |
probably damaging |
Het |
| Tomm5 |
T |
C |
4: 45,107,969 (GRCm39) |
E22G |
probably benign |
Het |
| Tor1a |
A |
G |
2: 30,853,704 (GRCm39) |
|
probably null |
Het |
| Trim43b |
A |
G |
9: 88,973,538 (GRCm39) |
I65T |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,739 (GRCm39) |
M640T |
possibly damaging |
Het |
| Vegfa |
A |
T |
17: 46,336,377 (GRCm39) |
Y248N |
probably damaging |
Het |
| Vmn1r172 |
T |
G |
7: 23,358,857 (GRCm39) |
|
probably null |
Het |
| Vmn1r29 |
G |
T |
6: 58,284,834 (GRCm39) |
V185F |
probably benign |
Het |
| Wdfy4 |
G |
A |
14: 32,826,072 (GRCm39) |
P1193L |
|
Het |
| Wdfy4 |
T |
C |
14: 32,792,705 (GRCm39) |
K2114E |
|
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 |
|
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 |
|
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'- TGAACAAATGCATTCCCGCC -3'
(R):5'- TGATGATCCAGGAAGAGCCC -3'
Sequencing Primer
(F):5'- AATGCATTCCCGCCCCTCC -3'
(R):5'- AAGAGCCCCCTGGTCACTTG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation