Incidental Mutation 'R5175:Fndc7'
| ID |
399109 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
042755-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108776482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 520
(V520I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099680
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053065
AA Change: V434I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: V434I
| 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: V520I
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: V520I
| 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: ENSMUST00000139137
|
| SMART Domains |
Protein: ENSMUSP00000117562
Gene: ENSMUSG00000045326
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
1 |
123 |
3e-27 |
BLAST |
|
SCOP:d1f6fb2
|
3 |
64 |
3e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180063
AA Change: V520I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: V520I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr2 |
A |
C |
11: 20,030,114 (GRCm39) |
M215R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,996,067 (GRCm39) |
I354K |
possibly damaging |
Het |
| Angel2 |
T |
A |
1: 190,673,081 (GRCm39) |
C72* |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,797,673 (GRCm39) |
H679L |
probably damaging |
Het |
| Anks1 |
A |
T |
17: 28,261,562 (GRCm39) |
Q694L |
probably damaging |
Het |
| Aox3 |
C |
T |
1: 58,211,487 (GRCm39) |
P1015S |
probably benign |
Het |
| Arhgap35 |
C |
A |
7: 16,296,524 (GRCm39) |
R847L |
probably damaging |
Het |
| Bag4 |
C |
A |
8: 26,258,379 (GRCm39) |
C316F |
probably damaging |
Het |
| Camkv |
T |
A |
9: 107,824,581 (GRCm39) |
I258N |
probably damaging |
Het |
| Cpt1c |
G |
A |
7: 44,620,781 (GRCm39) |
A28V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,452 (GRCm39) |
M219K |
possibly damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,648 (GRCm39) |
R26L |
possibly damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,007 (GRCm39) |
I100N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,448,550 (GRCm39) |
N4204K |
probably damaging |
Het |
| Dnase1l3 |
T |
A |
14: 7,987,386 (GRCm38) |
K55* |
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,468 (GRCm39) |
T819A |
probably damaging |
Het |
| Elfn2 |
A |
T |
15: 78,558,073 (GRCm39) |
L158H |
probably damaging |
Het |
| Erp44 |
T |
C |
4: 48,196,823 (GRCm39) |
T367A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,707,195 (GRCm39) |
D843E |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,493,631 (GRCm39) |
Y20C |
probably damaging |
Het |
| Fer1l6 |
G |
A |
15: 58,422,126 (GRCm39) |
G108E |
probably damaging |
Het |
| Gm17019 |
A |
G |
5: 15,082,817 (GRCm39) |
W46R |
possibly damaging |
Het |
| Gorab |
G |
T |
1: 163,214,214 (GRCm39) |
Q239K |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,543,438 (GRCm39) |
T76A |
probably benign |
Het |
| Hnrnpll |
A |
C |
17: 80,341,499 (GRCm39) |
C513W |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,467,824 (GRCm39) |
L170P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,386,106 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
C |
3: 89,516,746 (GRCm39) |
F385S |
probably damaging |
Het |
| Kif18a |
T |
G |
2: 109,133,323 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,741,547 (GRCm39) |
K559R |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,524 (GRCm39) |
C113R |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,387,649 (GRCm39) |
N535S |
probably damaging |
Het |
| Myh15 |
T |
G |
16: 48,889,789 (GRCm39) |
W127G |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,046,111 (GRCm39) |
R77G |
probably benign |
Het |
| Nub1 |
T |
A |
5: 24,907,446 (GRCm39) |
S376R |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,062,254 (GRCm39) |
V228A |
probably benign |
Het |
| Or4d10c |
G |
A |
19: 12,065,926 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,771 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,301 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,815,680 (GRCm39) |
P286S |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,125,879 (GRCm39) |
L97P |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,504,684 (GRCm39) |
Y831H |
probably damaging |
Het |
| Plcz1 |
T |
G |
6: 139,985,389 (GRCm39) |
I51L |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,915,516 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,777,713 (GRCm39) |
S124T |
probably benign |
Het |
| Prkag1 |
A |
C |
15: 98,713,596 (GRCm39) |
V33G |
possibly damaging |
Het |
| Rab25 |
T |
A |
3: 88,450,728 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,545 (GRCm39) |
I638V |
probably benign |
Het |
| Rest |
C |
A |
5: 77,416,219 (GRCm39) |
D144E |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,505,151 (GRCm39) |
D260G |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,560,467 (GRCm39) |
V425A |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,086 (GRCm39) |
M15K |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,144,748 (GRCm39) |
L555P |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,595,719 (GRCm39) |
D282G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,748,284 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
C |
T |
5: 77,164,317 (GRCm39) |
P107S |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,464,703 (GRCm39) |
W15R |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,870,860 (GRCm39) |
T259A |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,465 (GRCm39) |
F741S |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,998,594 (GRCm39) |
M54I |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,153 (GRCm39) |
H273L |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,644 (GRCm39) |
I686F |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,915 (GRCm39) |
E494G |
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,298,753 (GRCm39) |
E443G |
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 |
|
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'- GGGCTCTTTGAAAAGACACCAAG -3'
(R):5'- CATGGGGTATATTTGACTCCAGTG -3'
Sequencing Primer
(F):5'- CTCTTTGAAAAGACACCAAGTGCTG -3'
(R):5'- ATCTAATTCTTCTTAGCTCCTTGCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation