Incidental Mutation 'R5325:Fndc7'
| ID |
421874 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc7
|
| Ensembl Gene |
ENSMUSG00000045326 |
| Gene Name |
fibronectin type III domain containing 7 |
| Synonyms |
E230011A21Rik |
| MMRRC Submission |
042908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5325 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
108760994-108797324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 108790765 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 87
(T87I)
|
| 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: T87I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000051172
Gene: ENSMUSG00000045326
AA Change: T87I
| 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: T87I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099680
Gene: ENSMUSG00000045326
AA Change: T87I
| 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: T87I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136215
Gene: ENSMUSG00000045326
AA Change: T87I
| 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 |
0.1525 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,151,839 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
| Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
| Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,636,168 (GRCm39) |
E373G |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
| Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
| Osbpl5 |
C |
G |
7: 143,245,665 (GRCm39) |
A816P |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
| Tnpo3 |
A |
C |
6: 29,602,012 (GRCm39) |
|
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
| Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,928,012 (GRCm39) |
|
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 |
|
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'- GGCTTTGCGTAGTGGAACTC -3'
(R):5'- GCAAAAGATGTCATCCTTGTAGG -3'
Sequencing Primer
(F):5'- GTGGAACTCACTTGTGCACAAAC -3'
(R):5'- GGATATCCTGGCTAACATACAACTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation