Incidental Mutation 'R4933:Fndc7'
| ID |
380704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
042533-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4933 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 108783986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 208
(Q208K)
|
| 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: Q208K
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: Q208K
| 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 benign
Transcript: ENSMUST00000180063
AA Change: Q208K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: Q208K
| 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 |
0.0709 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
97% (73/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,276,226 (GRCm39) |
E643G |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,334,839 (GRCm39) |
V1937A |
probably benign |
Het |
| Acot10 |
A |
T |
15: 20,666,416 (GRCm39) |
N108K |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,648,386 (GRCm39) |
M478K |
probably benign |
Het |
| Akirin1 |
G |
A |
4: 123,630,651 (GRCm39) |
S191F |
probably damaging |
Het |
| Aoc1l3 |
T |
C |
6: 48,964,426 (GRCm39) |
S145P |
probably damaging |
Het |
| Aurkb |
T |
C |
11: 68,938,970 (GRCm39) |
|
probably benign |
Het |
| Cabyr |
T |
C |
18: 12,877,549 (GRCm39) |
|
probably benign |
Het |
| Ccp110 |
A |
G |
7: 118,324,542 (GRCm39) |
E688G |
probably damaging |
Het |
| Champ1 |
T |
A |
8: 13,929,137 (GRCm39) |
S432T |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,875,209 (GRCm39) |
N633I |
probably damaging |
Het |
| Dagla |
A |
T |
19: 10,247,079 (GRCm39) |
|
probably null |
Het |
| Dkkl1 |
A |
T |
7: 44,860,949 (GRCm39) |
L10Q |
probably null |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Gins4 |
A |
T |
8: 23,724,796 (GRCm39) |
C53S |
probably damaging |
Het |
| Gja8 |
T |
A |
3: 96,826,351 (GRCm39) |
|
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,734 (GRCm39) |
N328K |
probably benign |
Het |
| Haus6 |
A |
C |
4: 86,503,524 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
A |
G |
11: 102,091,389 (GRCm39) |
|
probably benign |
Het |
| Ide |
A |
G |
19: 37,255,155 (GRCm39) |
Y883H |
unknown |
Het |
| Igf2r |
A |
G |
17: 12,910,764 (GRCm39) |
|
probably null |
Het |
| Kdm3b |
T |
C |
18: 34,943,446 (GRCm39) |
Y723H |
probably damaging |
Het |
| Kif21b |
G |
A |
1: 136,079,063 (GRCm39) |
|
probably null |
Het |
| Lancl1 |
A |
T |
1: 67,060,193 (GRCm39) |
N77K |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,812,349 (GRCm39) |
N920K |
probably damaging |
Het |
| Lyst |
G |
A |
13: 13,933,963 (GRCm39) |
V3554I |
probably benign |
Het |
| Map1a |
G |
A |
2: 121,136,386 (GRCm39) |
A2163T |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,384,734 (GRCm39) |
|
probably benign |
Het |
| Myo10 |
C |
A |
15: 25,781,204 (GRCm39) |
Q154K |
probably damaging |
Het |
| Or2a7 |
C |
T |
6: 43,151,255 (GRCm39) |
L112F |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,441 (GRCm39) |
I214T |
probably damaging |
Het |
| Pcdhgb2 |
G |
A |
18: 37,825,267 (GRCm39) |
V753M |
probably benign |
Het |
| Pnn |
T |
A |
12: 59,117,013 (GRCm39) |
L195Q |
probably damaging |
Het |
| Pot1a |
A |
G |
6: 25,771,540 (GRCm39) |
V227A |
possibly damaging |
Het |
| Ppp1r21 |
T |
A |
17: 88,855,049 (GRCm39) |
D109E |
probably benign |
Het |
| Prr15l |
G |
A |
11: 96,825,588 (GRCm39) |
G73S |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,339 (GRCm39) |
F219S |
probably benign |
Het |
| Rnpep |
C |
A |
1: 135,194,764 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,803,723 (GRCm39) |
T643A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,960,831 (GRCm39) |
C36S |
probably damaging |
Het |
| Shc3 |
G |
T |
13: 51,596,805 (GRCm39) |
T406N |
probably benign |
Het |
| Slit3 |
G |
T |
11: 35,579,420 (GRCm39) |
G1199V |
probably damaging |
Het |
| Spata6l |
G |
T |
19: 28,919,175 (GRCm39) |
H195N |
possibly damaging |
Het |
| Sptbn5 |
G |
A |
2: 119,880,601 (GRCm39) |
|
noncoding transcript |
Het |
| St8sia6 |
T |
C |
2: 13,670,253 (GRCm39) |
N236D |
probably damaging |
Het |
| Stpg1 |
A |
T |
4: 135,233,727 (GRCm39) |
Q3L |
probably benign |
Het |
| Sult3a1 |
T |
A |
10: 33,742,550 (GRCm39) |
I59N |
probably damaging |
Het |
| Vmn1r208 |
T |
G |
13: 22,956,958 (GRCm39) |
I180L |
probably benign |
Het |
| Vmn2r51 |
A |
T |
7: 9,832,247 (GRCm39) |
N446K |
probably damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,553,402 (GRCm39) |
I618N |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,812,371 (GRCm39) |
N182S |
probably benign |
Het |
| Zfp296 |
G |
T |
7: 19,313,637 (GRCm39) |
C164F |
possibly damaging |
Het |
| Zfp764l1 |
A |
G |
7: 126,992,521 (GRCm39) |
Y30H |
probably damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,676,871 (GRCm39) |
V249A |
possibly damaging |
Het |
| Zswim2 |
A |
G |
2: 83,755,571 (GRCm39) |
L110P |
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 |
|
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 |
|
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'- AGCATCGTTATTTGCTGAGACAG -3'
(R):5'- CAGAGGTCGCATAGCTACAG -3'
Sequencing Primer
(F):5'- GAAATCAGGTACTCTGTTCCACACTG -3'
(R):5'- CAGCAATGGCCATGAGGTTATCAATC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation