Incidental Mutation 'R0078:Fstl5'
| ID |
44132 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fstl5
|
| Ensembl Gene |
ENSMUSG00000034098 |
| Gene Name |
follistatin-like 5 |
| Synonyms |
9130207J01Rik |
| MMRRC Submission |
038365-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0078 (G1)
|
| Quality Score |
150 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
75981582-76617317 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 76566952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038364]
[ENSMUST00000160261]
[ENSMUST00000162471]
|
| AlphaFold |
Q8BFR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038364
|
| SMART Domains |
Protein: ENSMUSP00000038506
Gene: ENSMUSG00000034098
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
|
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
|
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160261
|
| SMART Domains |
Protein: ENSMUSP00000125393
Gene: ENSMUSG00000034098
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
KAZAL
|
88 |
133 |
2.16e-9 |
SMART |
|
IGc2
|
261 |
328 |
1.11e-5 |
SMART |
|
IGc2
|
353 |
420 |
3.85e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162471
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.1%
- 20x: 89.2%
|
| Validation Efficiency |
81% (203/250) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,891,129 (GRCm39) |
Q456L |
probably benign |
Het |
| Abcf1 |
A |
G |
17: 36,268,954 (GRCm39) |
|
probably benign |
Het |
| Adamts7 |
A |
T |
9: 90,061,464 (GRCm39) |
S357C |
probably damaging |
Het |
| Ankrd26 |
A |
G |
6: 118,512,030 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
T |
A |
3: 153,550,301 (GRCm39) |
V111E |
probably damaging |
Het |
| C1qtnf4 |
C |
A |
2: 90,719,893 (GRCm39) |
N55K |
probably damaging |
Het |
| Cacng5 |
G |
T |
11: 107,768,259 (GRCm39) |
D249E |
probably benign |
Het |
| Camkk2 |
C |
A |
5: 122,895,622 (GRCm39) |
|
probably null |
Het |
| Ccdc27 |
T |
G |
4: 154,120,195 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
G |
A |
5: 123,436,633 (GRCm39) |
R1054H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,173 (GRCm39) |
|
probably null |
Het |
| Col7a1 |
A |
G |
9: 108,803,981 (GRCm39) |
|
probably benign |
Het |
| Corin |
T |
A |
5: 72,611,816 (GRCm39) |
D148V |
possibly damaging |
Het |
| Cstdc1 |
T |
A |
2: 148,627,745 (GRCm39) |
*131K |
probably null |
Het |
| Defb26 |
A |
C |
2: 152,349,988 (GRCm39) |
D97E |
possibly damaging |
Het |
| Dgkb |
A |
G |
12: 38,186,540 (GRCm39) |
N237D |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,379,993 (GRCm39) |
N1647S |
probably benign |
Het |
| Dtna |
G |
A |
18: 23,754,499 (GRCm39) |
A438T |
probably damaging |
Het |
| Erbb3 |
G |
T |
10: 128,419,310 (GRCm39) |
F219L |
probably damaging |
Het |
| EU599041 |
G |
A |
7: 42,875,275 (GRCm39) |
|
noncoding transcript |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,943,080 (GRCm39) |
S658P |
probably benign |
Het |
| Fgfr2 |
C |
T |
7: 129,802,805 (GRCm39) |
D168N |
possibly damaging |
Het |
| Glmn |
C |
T |
5: 107,705,836 (GRCm39) |
V451I |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,988 (GRCm39) |
|
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,270,169 (GRCm39) |
S61P |
probably damaging |
Het |
| Gpr22 |
T |
A |
12: 31,761,640 (GRCm39) |
M6L |
probably benign |
Het |
| Grm5 |
T |
C |
7: 87,724,185 (GRCm39) |
L825P |
probably damaging |
Het |
| Gstz1 |
A |
T |
12: 87,206,477 (GRCm39) |
I66F |
probably benign |
Het |
| H2-T22 |
A |
G |
17: 36,351,501 (GRCm39) |
V243A |
probably damaging |
Het |
| H2-T5 |
A |
T |
17: 36,476,353 (GRCm39) |
S304T |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,309,517 (GRCm39) |
L586F |
probably damaging |
Het |
| Hmcn2 |
T |
G |
2: 31,278,356 (GRCm39) |
L1686R |
probably damaging |
Het |
| Ice1 |
T |
C |
13: 70,751,467 (GRCm39) |
R1540G |
probably damaging |
Het |
| Igha |
T |
A |
12: 113,223,547 (GRCm39) |
|
probably benign |
Het |
| Kif3a |
C |
A |
11: 53,469,812 (GRCm39) |
T141K |
probably benign |
Het |
| Knl1 |
G |
A |
2: 118,900,373 (GRCm39) |
M691I |
probably benign |
Het |
| L3mbtl1 |
T |
C |
2: 162,789,146 (GRCm39) |
V13A |
probably benign |
Het |
| Lamc1 |
T |
A |
1: 153,104,936 (GRCm39) |
N1282I |
probably damaging |
Het |
| Lemd2 |
G |
T |
17: 27,422,702 (GRCm39) |
L231I |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,618,212 (GRCm39) |
V904M |
probably benign |
Het |
| Lyzl6 |
C |
T |
11: 103,524,795 (GRCm39) |
S103N |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,367,661 (GRCm39) |
R2367W |
probably damaging |
Het |
| Mapk3 |
T |
C |
7: 126,358,977 (GRCm39) |
Y54H |
probably damaging |
Het |
| Mlh3 |
A |
T |
12: 85,315,592 (GRCm39) |
V198D |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,078,290 (GRCm39) |
S374G |
possibly damaging |
Het |
| Ngef |
T |
C |
1: 87,468,387 (GRCm39) |
E124G |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,121,516 (GRCm39) |
|
probably null |
Het |
| Nr4a2 |
T |
C |
2: 57,002,240 (GRCm39) |
Y8C |
probably damaging |
Het |
| Nynrin |
T |
A |
14: 56,100,789 (GRCm39) |
V193D |
probably damaging |
Het |
| Or10ak9 |
T |
A |
4: 118,726,424 (GRCm39) |
S148T |
probably benign |
Het |
| Or10w1 |
G |
T |
19: 13,632,179 (GRCm39) |
V129F |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,180,092 (GRCm39) |
I207F |
probably damaging |
Het |
| Or4k36 |
A |
T |
2: 111,146,249 (GRCm39) |
I142F |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,701 (GRCm39) |
S69P |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,710,793 (GRCm39) |
Y174C |
probably damaging |
Het |
| Pcf11 |
T |
C |
7: 92,318,767 (GRCm39) |
D21G |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,775,344 (GRCm39) |
F489V |
possibly damaging |
Het |
| Pitrm1 |
C |
T |
13: 6,625,068 (GRCm39) |
P849S |
probably damaging |
Het |
| Plcz1 |
T |
C |
6: 139,935,510 (GRCm39) |
Y644C |
probably damaging |
Het |
| Ppp5c |
T |
C |
7: 16,761,650 (GRCm39) |
E28G |
probably benign |
Het |
| Prkcb |
A |
G |
7: 122,189,393 (GRCm39) |
Y507C |
probably damaging |
Het |
| Rims2 |
A |
G |
15: 39,398,251 (GRCm39) |
D1072G |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,405,988 (GRCm39) |
|
probably benign |
Het |
| Scoc |
T |
A |
8: 84,184,887 (GRCm39) |
|
probably null |
Het |
| Sh2d4a |
A |
T |
8: 68,734,973 (GRCm39) |
M31L |
probably damaging |
Het |
| Spta1 |
T |
A |
1: 174,034,598 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
A |
G |
2: 127,134,127 (GRCm39) |
Y270C |
probably damaging |
Het |
| Svs3b |
T |
C |
2: 164,097,881 (GRCm39) |
T147A |
probably benign |
Het |
| Tmtc3 |
A |
G |
10: 100,284,823 (GRCm39) |
L604P |
probably damaging |
Het |
| Trim30b |
A |
T |
7: 104,015,102 (GRCm39) |
N95K |
probably benign |
Het |
| Trpm8 |
C |
A |
1: 88,255,870 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
T |
C |
6: 127,943,448 (GRCm39) |
|
probably null |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Tyro3 |
A |
T |
2: 119,647,487 (GRCm39) |
Q872L |
probably damaging |
Het |
| Vmn1r204 |
G |
A |
13: 22,740,379 (GRCm39) |
M3I |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,035,971 (GRCm39) |
I2149T |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,467,210 (GRCm39) |
M122K |
possibly damaging |
Het |
| Zkscan1 |
A |
T |
5: 138,091,363 (GRCm39) |
D32V |
probably damaging |
Het |
|
| Other mutations in Fstl5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01632:Fstl5
|
APN |
3 |
76,615,135 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL01658:Fstl5
|
APN |
3 |
76,389,562 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01917:Fstl5
|
APN |
3 |
76,615,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02073:Fstl5
|
APN |
3 |
76,566,959 (GRCm39) |
splice site |
probably benign |
|
|
IGL02329:Fstl5
|
APN |
3 |
76,496,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02651:Fstl5
|
APN |
3 |
76,500,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Fstl5
|
APN |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03004:Fstl5
|
APN |
3 |
76,555,738 (GRCm39) |
splice site |
probably benign |
|
|
IGL03107:Fstl5
|
APN |
3 |
76,443,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03113:Fstl5
|
APN |
3 |
76,337,099 (GRCm39) |
nonsense |
probably null |
|
|
P0038:Fstl5
|
UTSW |
3 |
76,052,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Fstl5
|
UTSW |
3 |
76,567,006 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0015:Fstl5
|
UTSW |
3 |
76,229,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
|
R0032:Fstl5
|
UTSW |
3 |
76,555,742 (GRCm39) |
splice site |
probably benign |
|
|
R0137:Fstl5
|
UTSW |
3 |
76,614,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0183:Fstl5
|
UTSW |
3 |
76,229,579 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0330:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0427:Fstl5
|
UTSW |
3 |
76,615,034 (GRCm39) |
nonsense |
probably null |
|
|
R0687:Fstl5
|
UTSW |
3 |
76,615,119 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R1642:Fstl5
|
UTSW |
3 |
76,317,929 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1765:Fstl5
|
UTSW |
3 |
76,500,783 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1900:Fstl5
|
UTSW |
3 |
76,615,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1996:Fstl5
|
UTSW |
3 |
76,615,141 (GRCm39) |
missense |
probably benign |
0.19 |
|
R2157:Fstl5
|
UTSW |
3 |
76,615,372 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2228:Fstl5
|
UTSW |
3 |
76,389,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Fstl5
|
UTSW |
3 |
76,337,045 (GRCm39) |
splice site |
probably benign |
|
|
R4021:Fstl5
|
UTSW |
3 |
76,536,282 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4086:Fstl5
|
UTSW |
3 |
76,555,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4777:Fstl5
|
UTSW |
3 |
76,500,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4829:Fstl5
|
UTSW |
3 |
76,229,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Fstl5
|
UTSW |
3 |
76,496,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4955:Fstl5
|
UTSW |
3 |
76,131,183 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4977:Fstl5
|
UTSW |
3 |
76,317,801 (GRCm39) |
nonsense |
probably null |
|
|
R5166:Fstl5
|
UTSW |
3 |
76,536,267 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5232:Fstl5
|
UTSW |
3 |
76,052,284 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5313:Fstl5
|
UTSW |
3 |
76,500,812 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5584:Fstl5
|
UTSW |
3 |
76,229,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5647:Fstl5
|
UTSW |
3 |
76,496,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5842:Fstl5
|
UTSW |
3 |
76,229,590 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5978:Fstl5
|
UTSW |
3 |
76,052,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6007:Fstl5
|
UTSW |
3 |
76,317,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6064:Fstl5
|
UTSW |
3 |
76,229,605 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6327:Fstl5
|
UTSW |
3 |
76,615,108 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6386:Fstl5
|
UTSW |
3 |
76,229,373 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6523:Fstl5
|
UTSW |
3 |
76,443,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6852:Fstl5
|
UTSW |
3 |
76,615,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6861:Fstl5
|
UTSW |
3 |
76,229,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6866:Fstl5
|
UTSW |
3 |
76,229,532 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7100:Fstl5
|
UTSW |
3 |
76,443,600 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7341:Fstl5
|
UTSW |
3 |
76,389,704 (GRCm39) |
splice site |
probably null |
|
|
R7495:Fstl5
|
UTSW |
3 |
76,615,099 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7558:Fstl5
|
UTSW |
3 |
76,337,092 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7731:Fstl5
|
UTSW |
3 |
76,569,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Fstl5
|
UTSW |
3 |
76,337,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7852:Fstl5
|
UTSW |
3 |
76,615,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7874:Fstl5
|
UTSW |
3 |
76,569,093 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7881:Fstl5
|
UTSW |
3 |
76,443,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7986:Fstl5
|
UTSW |
3 |
76,337,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8039:Fstl5
|
UTSW |
3 |
76,555,725 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8050:Fstl5
|
UTSW |
3 |
76,614,810 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8844:Fstl5
|
UTSW |
3 |
76,337,154 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8929:Fstl5
|
UTSW |
3 |
76,615,138 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9012:Fstl5
|
UTSW |
3 |
76,567,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9069:Fstl5
|
UTSW |
3 |
76,615,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9221:Fstl5
|
UTSW |
3 |
76,569,114 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9373:Fstl5
|
UTSW |
3 |
76,555,669 (GRCm39) |
nonsense |
probably null |
|
|
R9427:Fstl5
|
UTSW |
3 |
76,229,583 (GRCm39) |
missense |
|
|
|
R9490:Fstl5
|
UTSW |
3 |
76,615,060 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9603:Fstl5
|
UTSW |
3 |
76,496,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Fstl5
|
UTSW |
3 |
76,615,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGCAGAGATGGCCTTTGGACC -3'
(R):5'- ACAGATGATGACTGAAACCACAGTTCC -3'
Sequencing Primer
(F):5'- GTCATCACTGAACTGCAATGAG -3'
(R):5'- TGAAACCACAGTTCCAAATAGGAAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation