Incidental Mutation 'R7181:Fndc7'
ID |
558964 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc7
|
Ensembl Gene |
ENSMUSG00000045326 |
Gene Name |
fibronectin type III domain containing 7 |
Synonyms |
E230011A21Rik |
MMRRC Submission |
045270-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7181 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 108788640 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099680
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053065]
[ENSMUST00000102620]
[ENSMUST00000180063]
|
AlphaFold |
A2AED3 |
Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000102620
|
SMART Domains |
Protein: ENSMUSP00000099680 Gene: ENSMUSG00000045326
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 null
Transcript: ENSMUST00000180063
|
SMART Domains |
Protein: ENSMUSP00000136215 Gene: ENSMUSG00000045326
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 |
0.9485 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (62/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg3 |
A |
G |
17: 57,188,037 (GRCm39) |
N182D |
probably benign |
Het |
Adgrl1 |
A |
G |
8: 84,652,878 (GRCm39) |
|
probably null |
Het |
Adm |
T |
C |
7: 110,228,236 (GRCm39) |
I139T |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,990,852 (GRCm39) |
K4045N |
probably damaging |
Het |
Axin1 |
T |
A |
17: 26,392,752 (GRCm39) |
S344R |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,306,691 (GRCm39) |
S1896G |
probably benign |
Het |
Cd209c |
A |
G |
8: 3,995,712 (GRCm39) |
V30A |
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cdh8 |
A |
T |
8: 99,825,557 (GRCm39) |
M520K |
probably benign |
Het |
Cyp2b23 |
G |
A |
7: 26,373,828 (GRCm39) |
T306I |
probably damaging |
Het |
Dnajc10 |
T |
G |
2: 80,149,587 (GRCm39) |
Y96* |
probably null |
Het |
Eif1ad14 |
G |
A |
12: 87,886,492 (GRCm39) |
R46W |
possibly damaging |
Het |
Elmod1 |
A |
C |
9: 53,841,382 (GRCm39) |
|
probably null |
Het |
Eva1b |
A |
G |
4: 126,043,446 (GRCm39) |
H162R |
possibly damaging |
Het |
Fam222b |
A |
T |
11: 78,045,804 (GRCm39) |
N455I |
probably damaging |
Het |
Fer1l6 |
G |
A |
15: 58,447,146 (GRCm39) |
A626T |
probably benign |
Het |
Fgd6 |
A |
G |
10: 93,879,373 (GRCm39) |
T76A |
probably benign |
Het |
Gabrg2 |
T |
A |
11: 41,811,261 (GRCm39) |
I295F |
probably damaging |
Het |
Gm10406 |
A |
T |
14: 7,027,359 (GRCm38) |
|
probably null |
Het |
Gm47189 |
T |
C |
14: 41,492,059 (GRCm39) |
M73V |
probably benign |
Het |
Gm9758 |
A |
T |
5: 14,963,667 (GRCm39) |
S54T |
probably damaging |
Het |
Gm9857 |
A |
G |
3: 108,847,554 (GRCm39) |
S70P |
unknown |
Het |
Gsap |
A |
T |
5: 21,458,427 (GRCm39) |
E470D |
probably damaging |
Het |
Hesx1 |
T |
A |
14: 26,722,678 (GRCm39) |
M1K |
probably null |
Het |
Hirip3 |
A |
G |
7: 126,463,235 (GRCm39) |
D397G |
probably damaging |
Het |
Kalrn |
T |
A |
16: 33,983,447 (GRCm39) |
N13I |
probably benign |
Het |
Mettl8 |
A |
T |
2: 70,803,706 (GRCm39) |
S194T |
possibly damaging |
Het |
Mrps35 |
T |
G |
6: 146,957,491 (GRCm39) |
|
probably null |
Het |
Myrfl |
G |
T |
10: 116,697,448 (GRCm39) |
N25K |
probably damaging |
Het |
Or51b6b |
C |
A |
7: 103,310,020 (GRCm39) |
G146C |
probably damaging |
Het |
Or7a41 |
A |
G |
10: 78,871,287 (GRCm39) |
Y219C |
probably damaging |
Het |
Or9k2b |
A |
T |
10: 130,016,626 (GRCm39) |
I41N |
possibly damaging |
Het |
Phf14 |
A |
T |
6: 11,933,340 (GRCm39) |
E67D |
unknown |
Het |
Prdm16 |
C |
T |
4: 154,613,094 (GRCm39) |
G111D |
probably damaging |
Het |
Prex1 |
G |
A |
2: 166,412,291 (GRCm39) |
A1568V |
probably damaging |
Het |
Ptpn23 |
G |
A |
9: 110,214,325 (GRCm39) |
T1692I |
unknown |
Het |
Ptprb |
C |
T |
10: 116,204,671 (GRCm39) |
S1835L |
probably damaging |
Het |
Rbm19 |
G |
A |
5: 120,254,532 (GRCm39) |
|
probably benign |
Het |
Rgs7bp |
T |
A |
13: 105,119,382 (GRCm39) |
H152L |
possibly damaging |
Het |
Rmdn3 |
A |
T |
2: 118,969,849 (GRCm39) |
L404Q |
probably damaging |
Het |
Rock2 |
T |
A |
12: 17,023,144 (GRCm39) |
F1148I |
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Sec24c |
C |
A |
14: 20,739,401 (GRCm39) |
H559N |
probably damaging |
Het |
Sephs2 |
T |
C |
7: 126,872,992 (GRCm39) |
S34G |
probably benign |
Het |
Serpina6 |
A |
T |
12: 103,613,203 (GRCm39) |
S366T |
probably benign |
Het |
Serpinb7 |
A |
T |
1: 107,378,052 (GRCm39) |
E248D |
probably benign |
Het |
Sesn1 |
G |
T |
10: 41,779,724 (GRCm39) |
R386L |
possibly damaging |
Het |
Skida1 |
T |
C |
2: 18,051,602 (GRCm39) |
S430G |
unknown |
Het |
Slc28a2 |
A |
T |
2: 122,282,462 (GRCm39) |
|
probably null |
Het |
Slc39a8 |
T |
C |
3: 135,563,299 (GRCm39) |
F203S |
possibly damaging |
Het |
Svip |
A |
G |
7: 51,653,177 (GRCm39) |
S46P |
possibly damaging |
Het |
Tbx21 |
T |
A |
11: 96,989,923 (GRCm39) |
D423V |
probably benign |
Het |
Tcirg1 |
G |
A |
19: 3,953,576 (GRCm39) |
A117V |
probably null |
Het |
Tmem63b |
T |
A |
17: 45,984,094 (GRCm39) |
K258N |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,685,600 (GRCm39) |
N951S |
probably damaging |
Het |
Uba2 |
G |
T |
7: 33,840,854 (GRCm39) |
D591E |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,258,893 (GRCm39) |
R1356W |
probably damaging |
Het |
Wasf3 |
A |
G |
5: 146,403,615 (GRCm39) |
T242A |
probably benign |
Het |
Wscd1 |
T |
C |
11: 71,650,709 (GRCm39) |
L12P |
probably damaging |
Het |
Zfp770 |
T |
C |
2: 114,027,872 (GRCm39) |
K66E |
probably damaging |
Het |
Zfyve26 |
A |
T |
12: 79,315,182 (GRCm39) |
D1431E |
probably benign |
Het |
Zhx2 |
G |
A |
15: 57,686,746 (GRCm39) |
R705H |
probably benign |
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 |
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'- CAGACTTGGTTCTCATAGGGG -3'
(R):5'- TCTGTTATGCGAGCCAACGG -3'
Sequencing Primer
(F):5'- TGATTCAACTACTGCCGAGG -3'
(R):5'- CCAACGGCTTGGGTAGAATTTG -3'
|
Posted On |
2019-06-26 |