Incidental Mutation 'R9325:Fndc7'
| ID |
706442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9325 (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 C
at 108790834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 64
(D64G)
|
| 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: D64G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: D64G
| 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: D64G
PolyPhen 2
Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: D64G
| 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 |
possibly damaging
Transcript: ENSMUST00000180063
AA Change: D64G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: D64G
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,646,578 (GRCm39) |
D1076G |
possibly damaging |
Het |
| Aadacl2fm1 |
T |
A |
3: 59,843,862 (GRCm39) |
N185K |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,849,279 (GRCm39) |
D1060G |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,991,257 (GRCm39) |
D4180E |
probably benign |
Het |
| Ank2 |
A |
C |
3: 126,775,504 (GRCm39) |
F42V |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,822,523 (GRCm39) |
I61T |
possibly damaging |
Het |
| Arhgap9 |
T |
C |
10: 127,161,722 (GRCm39) |
S238P |
probably damaging |
Het |
| Bpifa3 |
A |
T |
2: 153,975,600 (GRCm39) |
I57F |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,810,319 (GRCm39) |
Y670C |
probably damaging |
Het |
| Ceacam20 |
C |
A |
7: 19,720,607 (GRCm39) |
R515S |
probably benign |
Het |
| Cers5 |
A |
T |
15: 99,637,338 (GRCm39) |
V274E |
probably damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,186 (GRCm39) |
D865G |
|
Het |
| Cnih3 |
G |
A |
1: 181,181,072 (GRCm39) |
|
probably null |
Het |
| Coro2b |
G |
T |
9: 62,396,609 (GRCm39) |
H44N |
probably benign |
Het |
| Cuta |
A |
G |
17: 27,158,289 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
C |
7: 105,415,402 (GRCm39) |
I625V |
possibly damaging |
Het |
| Ddx4 |
A |
T |
13: 112,736,441 (GRCm39) |
F643Y |
probably damaging |
Het |
| Dlc1 |
A |
T |
8: 37,038,518 (GRCm39) |
V1020E |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 30,998,160 (GRCm39) |
T2559K |
possibly damaging |
Het |
| Eng |
C |
T |
2: 32,561,445 (GRCm39) |
A152V |
probably damaging |
Het |
| F7 |
G |
T |
8: 13,083,430 (GRCm39) |
R190L |
probably benign |
Het |
| Fcgr4 |
T |
C |
1: 170,847,711 (GRCm39) |
V103A |
probably damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,934 (GRCm39) |
V1005I |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,371 (GRCm39) |
H137L |
probably damaging |
Het |
| Gucy2c |
A |
T |
6: 136,743,992 (GRCm39) |
C202* |
probably null |
Het |
| Hspg2 |
C |
T |
4: 137,265,552 (GRCm39) |
R1783W |
probably damaging |
Het |
| Hyal6 |
T |
A |
6: 24,743,455 (GRCm39) |
S384T |
probably damaging |
Het |
| Igsf21 |
T |
A |
4: 139,794,466 (GRCm39) |
I136F |
probably damaging |
Het |
| Isl1 |
A |
G |
13: 116,436,105 (GRCm39) |
S321P |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,639,378 (GRCm39) |
K813R |
probably benign |
Het |
| Klk7 |
A |
G |
7: 43,461,437 (GRCm39) |
E18G |
possibly damaging |
Het |
| Lox |
T |
C |
18: 52,661,400 (GRCm39) |
M225V |
probably benign |
Het |
| Lrrfip2 |
T |
A |
9: 110,990,429 (GRCm39) |
M50K |
possibly damaging |
Het |
| Lrrn2 |
A |
T |
1: 132,865,241 (GRCm39) |
Q102L |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,562 (GRCm39) |
R692G |
probably benign |
Het |
| Mmp14 |
T |
C |
14: 54,676,248 (GRCm39) |
V326A |
probably damaging |
Het |
| Muc2 |
G |
A |
7: 141,298,559 (GRCm39) |
M70I |
|
Het |
| Nefl |
T |
C |
14: 68,322,460 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
C |
G |
7: 23,020,755 (GRCm39) |
A414G |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,212,271 (GRCm39) |
L586Q |
probably damaging |
Het |
| Or10ag58 |
G |
A |
2: 87,265,290 (GRCm39) |
G153D |
possibly damaging |
Het |
| Or8c13 |
T |
C |
9: 38,091,327 (GRCm39) |
D264G |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,990,558 (GRCm39) |
D467E |
probably damaging |
Het |
| Polr2g |
T |
A |
19: 8,774,669 (GRCm39) |
K71N |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,093 (GRCm39) |
H137R |
probably benign |
Het |
| Prkci |
A |
G |
3: 31,085,333 (GRCm39) |
K184R |
probably damaging |
Het |
| Prr15 |
G |
A |
6: 54,306,137 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,727,819 (GRCm39) |
N896K |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,479,640 (GRCm39) |
E4414G |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,756 (GRCm39) |
D994E |
probably damaging |
Het |
| Slc6a4 |
C |
A |
11: 76,909,999 (GRCm39) |
P418Q |
probably benign |
Het |
| Smarcc2 |
T |
A |
10: 128,324,076 (GRCm39) |
M1138K |
unknown |
Het |
| Snph |
C |
T |
2: 151,436,208 (GRCm39) |
R240Q |
probably damaging |
Het |
| Stox2 |
T |
A |
8: 47,647,095 (GRCm39) |
T122S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,817,768 (GRCm39) |
D1244G |
probably benign |
Het |
| Tmem168 |
T |
C |
6: 13,583,253 (GRCm39) |
I543V |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,291,762 (GRCm39) |
S77P |
probably damaging |
Het |
| Usp36 |
T |
G |
11: 118,160,031 (GRCm39) |
D471A |
possibly damaging |
Het |
| Vmn2r102 |
A |
G |
17: 19,897,558 (GRCm39) |
Y191C |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,268,433 (GRCm39) |
Q12R |
possibly damaging |
Het |
| Zfp820 |
A |
T |
17: 22,038,380 (GRCm39) |
I316N |
probably damaging |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,344,227 (GRCm39) |
F62L |
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 |
|
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 |
|
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'- TTGCAAGGCATCACACAGACAG -3'
(R):5'- TCACGGGAAGATGCTAGGATTG -3'
Sequencing Primer
(F):5'- GGCATCACACAGACAGCTCAAG -3'
(R):5'- CGGGAAGATGCTAGGATTGTGTAG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation