Incidental Mutation 'R7731:Fndc1'
| ID |
595872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc1
|
| Ensembl Gene |
ENSMUSG00000071984 |
| Gene Name |
fibronectin type III domain containing 1 |
| Synonyms |
1110027O12Rik |
| MMRRC Submission |
045787-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7731 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 7992271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 475
(T475I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
|
| AlphaFold |
A0A6I8MWX0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097425
AA Change: T475I
|
| SMART Domains |
Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: T475I
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FN3
|
1 |
50 |
6e-25 |
BLAST |
|
FN3
|
54 |
137 |
7.82e-4 |
SMART |
|
FN3
|
156 |
240 |
1.48e-4 |
SMART |
|
FN3
|
256 |
340 |
3.67e-9 |
SMART |
|
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
676 |
N/A |
INTRINSIC |
|
low complexity region
|
766 |
777 |
N/A |
INTRINSIC |
|
low complexity region
|
868 |
884 |
N/A |
INTRINSIC |
|
low complexity region
|
1021 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
|
low complexity region
|
1076 |
1090 |
N/A |
INTRINSIC |
|
Blast:FN3
|
1227 |
1276 |
2e-18 |
BLAST |
|
low complexity region
|
1277 |
1354 |
N/A |
INTRINSIC |
|
low complexity region
|
1395 |
1403 |
N/A |
INTRINSIC |
|
low complexity region
|
1407 |
1423 |
N/A |
INTRINSIC |
|
FN3
|
1494 |
1577 |
4.32e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
A |
G |
9: 99,502,470 (GRCm39) |
E210G |
possibly damaging |
Het |
| Accsl |
T |
C |
2: 93,691,363 (GRCm39) |
T372A |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,451 (GRCm39) |
S1049T |
probably damaging |
Het |
| Agmo |
G |
A |
12: 37,464,939 (GRCm39) |
R405K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,031 (GRCm39) |
T217A |
probably benign |
Het |
| Ankfy1 |
T |
A |
11: 72,603,107 (GRCm39) |
N45K |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,622,172 (GRCm39) |
T560I |
probably benign |
Het |
| Aqp1 |
T |
C |
6: 55,322,804 (GRCm39) |
Y186H |
possibly damaging |
Het |
| Arhgef18 |
G |
A |
8: 3,434,936 (GRCm39) |
V194M |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,391,086 (GRCm39) |
V320A |
probably benign |
Het |
| B230217C12Rik |
T |
C |
11: 97,732,226 (GRCm39) |
L2P |
unknown |
Het |
| Bco1 |
C |
A |
8: 117,857,807 (GRCm39) |
S477R |
possibly damaging |
Het |
| Brd4 |
A |
G |
17: 32,430,198 (GRCm39) |
S703P |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,892,275 (GRCm39) |
N339K |
|
Het |
| Cebpb |
A |
G |
2: 167,531,126 (GRCm39) |
D62G |
probably damaging |
Het |
| Clca4a |
T |
C |
3: 144,658,546 (GRCm39) |
I890V |
probably benign |
Het |
| Cyp2d9 |
A |
G |
15: 82,339,633 (GRCm39) |
|
probably null |
Het |
| Cyth1 |
T |
C |
11: 118,059,879 (GRCm39) |
T374A |
possibly damaging |
Het |
| Dennd3 |
A |
T |
15: 73,434,216 (GRCm39) |
H962L |
probably damaging |
Het |
| Dhtkd1 |
T |
G |
2: 5,928,923 (GRCm39) |
L249F |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,178,905 (GRCm39) |
H859Q |
probably benign |
Het |
| E2f4 |
A |
G |
8: 106,025,265 (GRCm39) |
D115G |
probably damaging |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,871 (GRCm39) |
I111V |
probably benign |
Het |
| Exoc3l4 |
G |
C |
12: 111,397,182 (GRCm39) |
D688H |
possibly damaging |
Het |
| Fan1 |
C |
T |
7: 64,022,444 (GRCm39) |
V270I |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,201,532 (GRCm39) |
I514N |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,569,069 (GRCm39) |
I574N |
probably damaging |
Het |
| Fzd4 |
T |
C |
7: 89,057,258 (GRCm39) |
V435A |
possibly damaging |
Het |
| Fzd6 |
T |
C |
15: 38,897,327 (GRCm39) |
F492S |
probably damaging |
Het |
| Gm4924 |
T |
A |
10: 82,213,361 (GRCm39) |
N386K |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,983,367 (GRCm39) |
D362E |
possibly damaging |
Het |
| Hectd4 |
A |
C |
5: 121,445,077 (GRCm39) |
M105L |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,458 (GRCm39) |
P2424L |
probably benign |
Het |
| Hspa4 |
A |
T |
11: 53,157,791 (GRCm39) |
|
probably null |
Het |
| Igf2bp3 |
A |
G |
6: 49,111,665 (GRCm39) |
V122A |
probably damaging |
Het |
| Ikzf2 |
A |
T |
1: 69,578,302 (GRCm39) |
N402K |
possibly damaging |
Het |
| Ip6k1 |
T |
C |
9: 107,921,927 (GRCm39) |
F207S |
probably damaging |
Het |
| Kbtbd8 |
C |
A |
6: 95,095,559 (GRCm39) |
N24K |
probably benign |
Het |
| Krtap10-4 |
T |
G |
10: 77,662,654 (GRCm39) |
T75P |
unknown |
Het |
| Macf1 |
C |
A |
4: 123,338,672 (GRCm39) |
S4355I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,042 (GRCm39) |
|
probably null |
Het |
| Myo3a |
G |
A |
2: 22,287,400 (GRCm39) |
V179M |
probably damaging |
Het |
| Nup210 |
G |
T |
6: 91,048,870 (GRCm39) |
T462K |
possibly damaging |
Het |
| Or11g27 |
T |
A |
14: 50,771,141 (GRCm39) |
S91T |
probably damaging |
Het |
| Or1l4 |
A |
G |
2: 37,091,561 (GRCm39) |
M103V |
probably benign |
Het |
| Or51f5 |
A |
G |
7: 102,424,141 (GRCm39) |
I137V |
probably benign |
Het |
| Or5j1 |
T |
C |
2: 86,879,578 (GRCm39) |
M1V |
probably null |
Het |
| Or8b53 |
A |
G |
9: 38,667,542 (GRCm39) |
Q186R |
possibly damaging |
Het |
| Ostn |
G |
A |
16: 27,165,668 (GRCm39) |
R119Q |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,889,564 (GRCm39) |
N191Y |
probably benign |
Het |
| Pcsk6 |
A |
T |
7: 65,683,641 (GRCm39) |
Q752L |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,890,871 (GRCm39) |
T347A |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,792,872 (GRCm39) |
R1520W |
probably damaging |
Het |
| Pphln1-ps1 |
C |
T |
16: 13,495,623 (GRCm39) |
R241C |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,399,732 (GRCm39) |
S2264P |
probably damaging |
Het |
| Ptcd1 |
C |
A |
5: 145,088,174 (GRCm39) |
R612S |
probably benign |
Het |
| Ptch2 |
T |
A |
4: 116,965,492 (GRCm39) |
F359Y |
probably benign |
Het |
| Ptprr |
A |
C |
10: 116,073,200 (GRCm39) |
D474A |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,490,274 (GRCm39) |
Q846K |
probably benign |
Het |
| Slc22a14 |
C |
T |
9: 118,999,677 (GRCm39) |
A505T |
possibly damaging |
Het |
| Smpdl3a |
A |
G |
10: 57,678,650 (GRCm39) |
Y151C |
probably damaging |
Het |
| Snrnp200 |
A |
G |
2: 127,071,022 (GRCm39) |
N1101S |
probably benign |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Sptlc1 |
A |
G |
13: 53,487,993 (GRCm39) |
V450A |
probably benign |
Het |
| Sqle |
A |
G |
15: 59,187,821 (GRCm39) |
Y43C |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,743,858 (GRCm39) |
H460R |
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,945,024 (GRCm39) |
E190D |
possibly damaging |
Het |
| Tbc1d10b |
T |
C |
7: 126,797,993 (GRCm39) |
K716R |
probably benign |
Het |
| Tbx20 |
T |
C |
9: 24,681,993 (GRCm39) |
I120M |
probably damaging |
Het |
| Tgm1 |
T |
G |
14: 55,947,978 (GRCm39) |
I274L |
probably benign |
Het |
| Tmem156 |
C |
T |
5: 65,232,905 (GRCm39) |
|
probably null |
Het |
| Tnk2 |
A |
G |
16: 32,488,952 (GRCm39) |
D264G |
possibly damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,956 (GRCm39) |
S306G |
possibly damaging |
Het |
| Tut1 |
T |
A |
19: 8,936,626 (GRCm39) |
V150D |
probably benign |
Het |
| Uchl5 |
T |
C |
1: 143,670,275 (GRCm39) |
F143L |
|
Het |
| Vmn1r23 |
T |
C |
6: 57,903,319 (GRCm39) |
K153R |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,698,798 (GRCm39) |
D94E |
probably benign |
Het |
| Zfp759 |
T |
C |
13: 67,287,690 (GRCm39) |
Y414H |
possibly damaging |
Het |
|
| Other mutations in Fndc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Fndc1
|
APN |
17 |
7,984,086 (GRCm39) |
missense |
unknown |
|
|
IGL00590:Fndc1
|
APN |
17 |
7,983,933 (GRCm39) |
missense |
unknown |
|
|
IGL00765:Fndc1
|
APN |
17 |
7,991,525 (GRCm39) |
missense |
unknown |
|
|
IGL00904:Fndc1
|
APN |
17 |
7,975,195 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL01153:Fndc1
|
APN |
17 |
7,998,874 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01557:Fndc1
|
APN |
17 |
7,975,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02493:Fndc1
|
APN |
17 |
7,994,377 (GRCm39) |
missense |
unknown |
|
|
IGL02501:Fndc1
|
APN |
17 |
7,984,230 (GRCm39) |
missense |
unknown |
|
|
IGL02503:Fndc1
|
APN |
17 |
7,990,348 (GRCm39) |
missense |
unknown |
|
|
IGL02887:Fndc1
|
APN |
17 |
7,992,470 (GRCm39) |
missense |
unknown |
|
|
IGL03348:Fndc1
|
APN |
17 |
7,991,479 (GRCm39) |
missense |
unknown |
|
|
pinnacle
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
|
spire
|
UTSW |
17 |
7,990,312 (GRCm39) |
missense |
unknown |
|
|
IGL02988:Fndc1
|
UTSW |
17 |
7,972,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
PIT4466001:Fndc1
|
UTSW |
17 |
7,969,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0336:Fndc1
|
UTSW |
17 |
7,983,939 (GRCm39) |
missense |
unknown |
|
|
R0403:Fndc1
|
UTSW |
17 |
7,994,420 (GRCm39) |
splice site |
probably null |
|
|
R0403:Fndc1
|
UTSW |
17 |
7,972,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0538:Fndc1
|
UTSW |
17 |
8,003,173 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Fndc1
|
UTSW |
17 |
7,960,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1140:Fndc1
|
UTSW |
17 |
7,994,258 (GRCm39) |
missense |
unknown |
|
|
R1523:Fndc1
|
UTSW |
17 |
7,992,041 (GRCm39) |
missense |
unknown |
|
|
R1609:Fndc1
|
UTSW |
17 |
7,991,598 (GRCm39) |
missense |
unknown |
|
|
R1632:Fndc1
|
UTSW |
17 |
7,992,032 (GRCm39) |
missense |
unknown |
|
|
R1888:Fndc1
|
UTSW |
17 |
7,990,621 (GRCm39) |
missense |
unknown |
|
|
R1888:Fndc1
|
UTSW |
17 |
7,990,621 (GRCm39) |
missense |
unknown |
|
|
R2004:Fndc1
|
UTSW |
17 |
8,023,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2007:Fndc1
|
UTSW |
17 |
7,997,580 (GRCm39) |
unclassified |
probably benign |
|
|
R2128:Fndc1
|
UTSW |
17 |
7,997,497 (GRCm39) |
unclassified |
probably benign |
|
|
R2187:Fndc1
|
UTSW |
17 |
7,960,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2251:Fndc1
|
UTSW |
17 |
7,972,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2322:Fndc1
|
UTSW |
17 |
8,007,847 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2425:Fndc1
|
UTSW |
17 |
8,023,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2921:Fndc1
|
UTSW |
17 |
8,023,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2985:Fndc1
|
UTSW |
17 |
7,975,155 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3436:Fndc1
|
UTSW |
17 |
7,969,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3499:Fndc1
|
UTSW |
17 |
7,972,416 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R3508:Fndc1
|
UTSW |
17 |
7,983,940 (GRCm39) |
nonsense |
probably null |
|
|
R3766:Fndc1
|
UTSW |
17 |
8,003,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3813:Fndc1
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
|
R3814:Fndc1
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
|
R4031:Fndc1
|
UTSW |
17 |
7,988,584 (GRCm39) |
nonsense |
probably null |
|
|
R4544:Fndc1
|
UTSW |
17 |
7,992,376 (GRCm39) |
missense |
unknown |
|
|
R4583:Fndc1
|
UTSW |
17 |
7,958,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4619:Fndc1
|
UTSW |
17 |
7,984,036 (GRCm39) |
missense |
unknown |
|
|
R4700:Fndc1
|
UTSW |
17 |
7,990,312 (GRCm39) |
missense |
unknown |
|
|
R4743:Fndc1
|
UTSW |
17 |
7,991,111 (GRCm39) |
nonsense |
probably null |
|
|
R4803:Fndc1
|
UTSW |
17 |
7,972,538 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4862:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
|
R4876:Fndc1
|
UTSW |
17 |
7,990,471 (GRCm39) |
missense |
unknown |
|
|
R5057:Fndc1
|
UTSW |
17 |
7,990,802 (GRCm39) |
nonsense |
probably null |
|
|
R5327:Fndc1
|
UTSW |
17 |
7,991,540 (GRCm39) |
missense |
unknown |
|
|
R5372:Fndc1
|
UTSW |
17 |
7,984,042 (GRCm39) |
missense |
unknown |
|
|
R5533:Fndc1
|
UTSW |
17 |
7,991,608 (GRCm39) |
missense |
unknown |
|
|
R5754:Fndc1
|
UTSW |
17 |
7,988,585 (GRCm39) |
missense |
unknown |
|
|
R5762:Fndc1
|
UTSW |
17 |
7,990,366 (GRCm39) |
missense |
unknown |
|
|
R5830:Fndc1
|
UTSW |
17 |
8,007,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5924:Fndc1
|
UTSW |
17 |
7,992,442 (GRCm39) |
missense |
unknown |
|
|
R6147:Fndc1
|
UTSW |
17 |
7,972,594 (GRCm39) |
splice site |
probably null |
|
|
R6175:Fndc1
|
UTSW |
17 |
7,991,479 (GRCm39) |
missense |
unknown |
|
|
R6303:Fndc1
|
UTSW |
17 |
7,977,317 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6377:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
|
R6704:Fndc1
|
UTSW |
17 |
7,990,642 (GRCm39) |
missense |
unknown |
|
|
R6857:Fndc1
|
UTSW |
17 |
7,991,002 (GRCm39) |
missense |
unknown |
|
|
R6865:Fndc1
|
UTSW |
17 |
7,991,672 (GRCm39) |
missense |
unknown |
|
|
R7069:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
|
R7153:Fndc1
|
UTSW |
17 |
8,020,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Fndc1
|
UTSW |
17 |
8,019,763 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7359:Fndc1
|
UTSW |
17 |
8,032,318 (GRCm39) |
splice site |
probably null |
|
|
R7743:Fndc1
|
UTSW |
17 |
7,983,969 (GRCm39) |
missense |
unknown |
|
|
R7884:Fndc1
|
UTSW |
17 |
7,992,029 (GRCm39) |
missense |
unknown |
|
|
R8071:Fndc1
|
UTSW |
17 |
7,991,362 (GRCm39) |
missense |
unknown |
|
|
R8100:Fndc1
|
UTSW |
17 |
7,990,685 (GRCm39) |
missense |
unknown |
|
|
R8317:Fndc1
|
UTSW |
17 |
8,019,720 (GRCm39) |
nonsense |
probably null |
|
|
R8362:Fndc1
|
UTSW |
17 |
8,001,207 (GRCm39) |
missense |
unknown |
|
|
R8835:Fndc1
|
UTSW |
17 |
7,958,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8841:Fndc1
|
UTSW |
17 |
7,992,181 (GRCm39) |
missense |
unknown |
|
|
R8912:Fndc1
|
UTSW |
17 |
8,019,778 (GRCm39) |
missense |
probably null |
0.26 |
|
R9236:Fndc1
|
UTSW |
17 |
7,992,460 (GRCm39) |
missense |
unknown |
|
|
R9392:Fndc1
|
UTSW |
17 |
7,991,957 (GRCm39) |
missense |
unknown |
|
|
R9412:Fndc1
|
UTSW |
17 |
7,991,198 (GRCm39) |
missense |
unknown |
|
|
R9618:Fndc1
|
UTSW |
17 |
7,990,313 (GRCm39) |
missense |
unknown |
|
|
R9632:Fndc1
|
UTSW |
17 |
7,991,622 (GRCm39) |
missense |
unknown |
|
|
R9748:Fndc1
|
UTSW |
17 |
7,991,929 (GRCm39) |
missense |
unknown |
|
|
Z1088:Fndc1
|
UTSW |
17 |
8,001,311 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1176:Fndc1
|
UTSW |
17 |
8,023,709 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Fndc1
|
UTSW |
17 |
7,992,425 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGACAGCTTTAGGGTCAGGG -3'
(R):5'- CGAACTAATAGTGTGGTACCCG -3'
Sequencing Primer
(F):5'- AGGGGATCCTGCTTGATCATACTC -3'
(R):5'- TGTGGTACCCGGGAAAACC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation