Incidental Mutation 'R5846:Fndc7'
| ID |
453601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
044064-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108788707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 178
(I178T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
| AlphaFold |
A2AED3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053065
AA Change: I178T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: I178T
| 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: I178T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: I178T
| 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 |
probably damaging
Transcript: ENSMUST00000180063
AA Change: I178T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: I178T
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196867
|
| Meta Mutation Damage Score |
0.1967 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
| Validation Efficiency |
97% (67/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
T |
C |
2: 68,562,377 (GRCm39) |
S335P |
unknown |
Het |
| Ace3 |
A |
T |
11: 105,889,188 (GRCm39) |
I473F |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,886,707 (GRCm39) |
N281Y |
probably damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,196 (GRCm39) |
W275R |
probably damaging |
Het |
| Apmap |
T |
C |
2: 150,450,341 (GRCm39) |
D20G |
probably damaging |
Het |
| Arap2 |
T |
C |
5: 62,807,116 (GRCm39) |
T1184A |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,722,907 (GRCm39) |
V303A |
possibly damaging |
Het |
| BC004004 |
A |
T |
17: 29,501,282 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
G |
A |
6: 124,517,912 (GRCm39) |
P23S |
possibly damaging |
Het |
| C1s2 |
T |
A |
6: 124,608,123 (GRCm39) |
N197Y |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,653,980 (GRCm39) |
H539R |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,569,025 (GRCm39) |
N899I |
probably damaging |
Het |
| Cct4 |
T |
C |
11: 22,951,354 (GRCm39) |
|
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,500,385 (GRCm39) |
T81S |
probably damaging |
Het |
| Dnaaf3 |
A |
T |
7: 4,526,686 (GRCm39) |
S464T |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,900,437 (GRCm39) |
I3898N |
possibly damaging |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,550,244 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,067,584 (GRCm39) |
K1187E |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,867,735 (GRCm39) |
D1437V |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,234,942 (GRCm39) |
Q3674* |
probably null |
Het |
| Eef1a2 |
T |
C |
2: 180,794,776 (GRCm39) |
Y141C |
probably damaging |
Het |
| Fads3 |
G |
T |
19: 10,030,397 (GRCm39) |
Q178H |
probably null |
Het |
| Fbxw22 |
T |
A |
9: 109,215,829 (GRCm39) |
M140L |
probably benign |
Het |
| Foxd1 |
T |
C |
13: 98,491,549 (GRCm39) |
M141T |
probably damaging |
Het |
| H4c2 |
T |
C |
13: 23,941,215 (GRCm39) |
V71A |
possibly damaging |
Het |
| Havcr2 |
T |
C |
11: 46,360,343 (GRCm39) |
I141T |
probably benign |
Het |
| Hectd1 |
A |
C |
12: 51,820,618 (GRCm39) |
N1190K |
probably damaging |
Het |
| Hook3 |
T |
A |
8: 26,534,355 (GRCm39) |
|
probably benign |
Het |
| Hpgd |
T |
A |
8: 56,760,702 (GRCm39) |
I133N |
possibly damaging |
Het |
| Itih2 |
T |
C |
2: 10,102,714 (GRCm39) |
R807G |
probably benign |
Het |
| Klhl35 |
G |
A |
7: 99,122,094 (GRCm39) |
G65D |
probably damaging |
Het |
| Lrch4 |
C |
G |
5: 137,631,919 (GRCm39) |
C48W |
probably damaging |
Het |
| Mafa |
A |
G |
15: 75,619,627 (GRCm39) |
S49P |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,662,584 (GRCm39) |
V1170A |
probably damaging |
Het |
| Mprip |
A |
T |
11: 59,649,380 (GRCm39) |
K1028M |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Numb |
G |
T |
12: 83,923,521 (GRCm39) |
|
probably benign |
Het |
| Obscn |
A |
G |
11: 58,929,435 (GRCm39) |
L6063P |
probably damaging |
Het |
| Or2y6 |
A |
G |
11: 52,103,881 (GRCm39) |
*312Q |
probably null |
Het |
| Or6c6c |
A |
T |
10: 129,540,756 (GRCm39) |
N3I |
probably damaging |
Het |
| P3h3 |
A |
T |
6: 124,834,157 (GRCm39) |
|
probably null |
Het |
| Pi4k2a |
A |
G |
19: 42,103,477 (GRCm39) |
D329G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,713,268 (GRCm39) |
|
probably benign |
Het |
| Samd9l |
A |
G |
6: 3,376,754 (GRCm39) |
V169A |
probably benign |
Het |
| Sdk1 |
T |
C |
5: 142,100,148 (GRCm39) |
Y1393H |
probably damaging |
Het |
| Slc18a3 |
T |
A |
14: 32,185,880 (GRCm39) |
M168L |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,816,190 (GRCm39) |
T722A |
probably damaging |
Het |
| Ssr2 |
C |
T |
3: 88,488,379 (GRCm39) |
P85L |
probably damaging |
Het |
| Syne2 |
G |
T |
12: 76,074,898 (GRCm39) |
A4614S |
probably benign |
Het |
| Tgfbr3 |
C |
A |
5: 107,288,521 (GRCm39) |
G380V |
possibly damaging |
Het |
| Tk1 |
G |
T |
11: 117,706,748 (GRCm39) |
|
probably benign |
Het |
| Tmem245 |
A |
T |
4: 56,903,241 (GRCm39) |
S610T |
probably benign |
Het |
| Tmtc2 |
A |
G |
10: 105,107,302 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
A |
G |
7: 104,006,578 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Tsks |
A |
G |
7: 44,593,412 (GRCm39) |
D126G |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,733,812 (GRCm39) |
|
probably benign |
Het |
| Usp15 |
A |
G |
10: 123,017,647 (GRCm39) |
W50R |
probably damaging |
Het |
| Vmn2r55 |
A |
T |
7: 12,404,492 (GRCm39) |
F304I |
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,339,587 (GRCm39) |
D609E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,392,638 (GRCm39) |
|
probably null |
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 |
|
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'- TACATTTAAACAGCCGTTGCC -3'
(R):5'- CTTATAGTGTTGGCTGCCCC -3'
Sequencing Primer
(F):5'- GCCGGCTGCTCTGTTCTG -3'
(R):5'- CAGTTCTGGAGGTTAGCTCTCCAAG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation