Incidental Mutation 'R0077:Fmnl1'
ID |
19499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
038364-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.139)
|
Stock # |
R0077 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103080795 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 318
(F318S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042286
AA Change: F312S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: F312S
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
low complexity region
|
1074 |
1087 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107027
AA Change: F312S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: F312S
Domain | Start | End | E-Value | Type |
Drf_GBD
|
27 |
280 |
1.04e-87 |
SMART |
Drf_FH3
|
283 |
632 |
2.29e-75 |
SMART |
FH2
|
627 |
1057 |
4.35e-142 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126425
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218163
AA Change: F318S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.9184 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.4%
- 20x: 90.5%
|
Validation Efficiency |
83% (159/192) |
MGI Phenotype |
PHENOTYPE: Constitutive homozygous KO is embryonic lethal. Conditional homozygous KO in myeloid cells leads to reduced macrophage migration and podosome formation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl3 |
T |
C |
5: 81,919,532 (GRCm39) |
|
probably benign |
Het |
Adgrl4 |
A |
G |
3: 151,223,418 (GRCm39) |
I624V |
probably damaging |
Het |
AI661453 |
A |
G |
17: 47,780,287 (GRCm39) |
|
probably benign |
Het |
Alg12 |
C |
T |
15: 88,700,181 (GRCm39) |
E60K |
probably damaging |
Het |
Angel2 |
A |
T |
1: 190,665,284 (GRCm39) |
N72Y |
possibly damaging |
Het |
Ank1 |
C |
A |
8: 23,630,183 (GRCm39) |
P81Q |
probably damaging |
Het |
Atp6v1c2 |
A |
T |
12: 17,371,613 (GRCm39) |
D61E |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,103,254 (GRCm39) |
M83K |
probably damaging |
Het |
Capn7 |
A |
G |
14: 31,090,072 (GRCm39) |
I642V |
probably benign |
Het |
Ccdc134 |
T |
C |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
Ccr3 |
C |
T |
9: 123,829,061 (GRCm39) |
T132I |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,971,077 (GRCm39) |
W80C |
probably damaging |
Het |
Chaf1a |
T |
A |
17: 56,354,384 (GRCm39) |
I218K |
unknown |
Het |
Ddx23 |
A |
G |
15: 98,554,481 (GRCm39) |
|
probably null |
Het |
Dmkn |
A |
G |
7: 30,464,719 (GRCm39) |
S231G |
probably benign |
Het |
Ep300 |
T |
C |
15: 81,525,514 (GRCm39) |
I1446T |
unknown |
Het |
Grik5 |
A |
T |
7: 24,722,805 (GRCm39) |
V497E |
probably damaging |
Het |
Gtf2ird2 |
T |
C |
5: 134,242,925 (GRCm39) |
Y380H |
probably damaging |
Het |
Hecw2 |
C |
T |
1: 53,907,990 (GRCm39) |
|
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,358 (GRCm39) |
I167V |
probably damaging |
Het |
Kcnh2 |
T |
A |
5: 24,527,700 (GRCm39) |
N884I |
probably benign |
Het |
Krba1 |
T |
C |
6: 48,382,159 (GRCm39) |
|
probably benign |
Het |
Krt18 |
G |
T |
15: 101,939,409 (GRCm39) |
R294L |
probably benign |
Het |
Lctl |
T |
A |
9: 64,029,389 (GRCm39) |
M1K |
probably null |
Het |
Lingo2 |
G |
A |
4: 35,708,375 (GRCm39) |
S535F |
possibly damaging |
Het |
Lrba |
A |
C |
3: 86,449,995 (GRCm39) |
N2105H |
probably damaging |
Het |
Lrrc10 |
A |
G |
10: 116,881,419 (GRCm39) |
D31G |
probably damaging |
Het |
Lrrtm1 |
T |
A |
6: 77,220,855 (GRCm39) |
V104E |
probably damaging |
Het |
Mgat3 |
C |
T |
15: 80,096,778 (GRCm39) |
T535I |
probably benign |
Het |
Nav3 |
T |
C |
10: 109,552,503 (GRCm39) |
I1780V |
possibly damaging |
Het |
Nlrc4 |
A |
G |
17: 74,753,826 (GRCm39) |
W186R |
probably damaging |
Het |
Nr2c1 |
T |
A |
10: 94,024,117 (GRCm39) |
F441I |
probably benign |
Het |
Obscn |
A |
G |
11: 58,942,347 (GRCm39) |
|
probably benign |
Het |
Or1p1 |
T |
C |
11: 74,179,501 (GRCm39) |
F10L |
probably benign |
Het |
Or2a56 |
T |
C |
6: 42,932,707 (GRCm39) |
S92P |
probably benign |
Het |
Or56b34 |
T |
C |
7: 104,937,726 (GRCm39) |
V142A |
probably damaging |
Het |
Or5au1 |
T |
C |
14: 52,273,442 (GRCm39) |
N42S |
possibly damaging |
Het |
Osr1 |
A |
T |
12: 9,629,691 (GRCm39) |
Y188F |
probably damaging |
Het |
Pak2 |
A |
T |
16: 31,852,661 (GRCm39) |
N293K |
possibly damaging |
Het |
Pappa |
A |
T |
4: 65,226,049 (GRCm39) |
T1301S |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,660,442 (GRCm39) |
Q679* |
probably null |
Het |
Pik3r5 |
T |
A |
11: 68,377,448 (GRCm39) |
|
probably null |
Het |
Plbd2 |
C |
T |
5: 120,624,104 (GRCm39) |
|
probably null |
Het |
Ppp1r3a |
G |
T |
6: 14,754,516 (GRCm39) |
P244T |
possibly damaging |
Het |
Pum1 |
C |
A |
4: 130,499,985 (GRCm39) |
R960S |
probably benign |
Het |
Ralgapb |
T |
C |
2: 158,315,169 (GRCm39) |
Y845H |
probably damaging |
Het |
Rbms1 |
A |
T |
2: 60,589,179 (GRCm39) |
M287K |
possibly damaging |
Het |
Rdh1 |
A |
T |
10: 127,595,906 (GRCm39) |
I34F |
probably damaging |
Het |
Rgl3 |
T |
A |
9: 21,885,398 (GRCm39) |
Q644L |
probably benign |
Het |
Rpap2 |
T |
C |
5: 107,768,340 (GRCm39) |
S393P |
probably damaging |
Het |
Rsad2 |
T |
C |
12: 26,506,376 (GRCm39) |
S15G |
probably damaging |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
S100a11 |
A |
C |
3: 93,431,509 (GRCm39) |
|
probably null |
Het |
Septin4 |
T |
C |
11: 87,472,022 (GRCm39) |
S11P |
probably benign |
Het |
Serpina1c |
T |
C |
12: 103,862,350 (GRCm39) |
S322G |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,248,762 (GRCm39) |
C385S |
probably damaging |
Het |
Shank2 |
A |
T |
7: 143,746,204 (GRCm39) |
I193F |
possibly damaging |
Het |
Slc4a11 |
G |
T |
2: 130,528,221 (GRCm39) |
|
probably benign |
Het |
Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
Tbcd |
C |
A |
11: 121,485,100 (GRCm39) |
Q761K |
probably benign |
Het |
Tmed6 |
C |
T |
8: 107,792,198 (GRCm39) |
V16M |
probably damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,701 (GRCm39) |
T18A |
probably benign |
Het |
Tsc1 |
T |
A |
2: 28,568,955 (GRCm39) |
|
probably benign |
Het |
Ube2m |
T |
C |
7: 12,769,657 (GRCm39) |
N49D |
probably damaging |
Het |
Ubqlnl |
T |
C |
7: 103,799,254 (GRCm39) |
D81G |
probably damaging |
Het |
Vmn2r56 |
A |
G |
7: 12,449,332 (GRCm39) |
V302A |
probably benign |
Het |
Vmn2r73 |
T |
A |
7: 85,525,075 (GRCm39) |
R24S |
probably benign |
Het |
Wfs1 |
C |
A |
5: 37,130,538 (GRCm39) |
S236I |
probably damaging |
Het |
Xpot |
A |
T |
10: 121,441,544 (GRCm39) |
N560K |
probably benign |
Het |
Yipf3 |
A |
G |
17: 46,562,503 (GRCm39) |
T303A |
probably benign |
Het |
Zfp790 |
T |
C |
7: 29,524,300 (GRCm39) |
W19R |
probably damaging |
Het |
Zfp846 |
T |
C |
9: 20,505,303 (GRCm39) |
C388R |
probably benign |
Het |
Zpr1 |
T |
A |
9: 46,184,634 (GRCm39) |
I47N |
probably damaging |
Het |
|
Other mutations in Fmnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00424:Fmnl1
|
APN |
11 |
103,088,166 (GRCm39) |
nonsense |
probably null |
|
IGL00972:Fmnl1
|
APN |
11 |
103,071,781 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01406:Fmnl1
|
APN |
11 |
103,085,516 (GRCm39) |
unclassified |
probably benign |
|
IGL01417:Fmnl1
|
APN |
11 |
103,087,520 (GRCm39) |
unclassified |
probably benign |
|
IGL01599:Fmnl1
|
APN |
11 |
103,077,482 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02151:Fmnl1
|
APN |
11 |
103,083,598 (GRCm39) |
missense |
probably benign |
0.38 |
IGL02324:Fmnl1
|
APN |
11 |
103,070,364 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02812:Fmnl1
|
APN |
11 |
103,087,592 (GRCm39) |
unclassified |
probably benign |
|
IGL03369:Fmnl1
|
APN |
11 |
103,088,008 (GRCm39) |
splice site |
probably null |
|
archetypal
|
UTSW |
11 |
103,077,453 (GRCm39) |
missense |
probably damaging |
1.00 |
contractual
|
UTSW |
11 |
103,071,741 (GRCm39) |
missense |
probably damaging |
1.00 |
stylistic
|
UTSW |
11 |
103,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
R0241:Fmnl1
|
UTSW |
11 |
103,072,996 (GRCm39) |
critical splice donor site |
probably null |
|
R0241:Fmnl1
|
UTSW |
11 |
103,072,996 (GRCm39) |
critical splice donor site |
probably null |
|
R0413:Fmnl1
|
UTSW |
11 |
103,084,889 (GRCm39) |
splice site |
probably benign |
|
R1170:Fmnl1
|
UTSW |
11 |
103,088,196 (GRCm39) |
missense |
probably benign |
0.02 |
R1389:Fmnl1
|
UTSW |
11 |
103,077,535 (GRCm39) |
splice site |
probably null |
|
R1794:Fmnl1
|
UTSW |
11 |
103,087,973 (GRCm39) |
missense |
probably benign |
0.00 |
R2082:Fmnl1
|
UTSW |
11 |
103,082,851 (GRCm39) |
missense |
probably damaging |
1.00 |
R2105:Fmnl1
|
UTSW |
11 |
103,085,518 (GRCm39) |
missense |
probably benign |
0.39 |
R3611:Fmnl1
|
UTSW |
11 |
103,085,591 (GRCm39) |
unclassified |
probably benign |
|
R3883:Fmnl1
|
UTSW |
11 |
103,072,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R3893:Fmnl1
|
UTSW |
11 |
103,087,583 (GRCm39) |
unclassified |
probably benign |
|
R4658:Fmnl1
|
UTSW |
11 |
103,088,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4689:Fmnl1
|
UTSW |
11 |
103,084,562 (GRCm39) |
critical splice donor site |
probably null |
|
R4812:Fmnl1
|
UTSW |
11 |
103,089,390 (GRCm39) |
unclassified |
probably benign |
|
R4996:Fmnl1
|
UTSW |
11 |
103,073,482 (GRCm39) |
missense |
possibly damaging |
0.58 |
R5646:Fmnl1
|
UTSW |
11 |
103,087,338 (GRCm39) |
unclassified |
probably benign |
|
R5702:Fmnl1
|
UTSW |
11 |
103,076,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R5850:Fmnl1
|
UTSW |
11 |
103,086,111 (GRCm39) |
unclassified |
probably benign |
|
R5903:Fmnl1
|
UTSW |
11 |
103,062,270 (GRCm39) |
splice site |
probably null |
|
R6254:Fmnl1
|
UTSW |
11 |
103,087,141 (GRCm39) |
unclassified |
probably benign |
|
R6958:Fmnl1
|
UTSW |
11 |
103,062,140 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R7030:Fmnl1
|
UTSW |
11 |
103,085,600 (GRCm39) |
unclassified |
probably benign |
|
R7133:Fmnl1
|
UTSW |
11 |
103,072,610 (GRCm39) |
critical splice donor site |
probably null |
|
R7171:Fmnl1
|
UTSW |
11 |
103,081,224 (GRCm39) |
missense |
probably damaging |
1.00 |
R7224:Fmnl1
|
UTSW |
11 |
103,073,595 (GRCm39) |
critical splice donor site |
probably null |
|
R7282:Fmnl1
|
UTSW |
11 |
103,087,091 (GRCm39) |
missense |
unknown |
|
R7448:Fmnl1
|
UTSW |
11 |
103,077,453 (GRCm39) |
missense |
probably damaging |
1.00 |
R7463:Fmnl1
|
UTSW |
11 |
103,083,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R7831:Fmnl1
|
UTSW |
11 |
103,088,999 (GRCm39) |
missense |
unknown |
|
R7862:Fmnl1
|
UTSW |
11 |
103,071,756 (GRCm39) |
missense |
probably damaging |
1.00 |
R7973:Fmnl1
|
UTSW |
11 |
103,061,984 (GRCm39) |
start gained |
probably benign |
|
R8177:Fmnl1
|
UTSW |
11 |
103,080,785 (GRCm39) |
missense |
probably damaging |
0.98 |
R8273:Fmnl1
|
UTSW |
11 |
103,077,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R8345:Fmnl1
|
UTSW |
11 |
103,077,440 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8507:Fmnl1
|
UTSW |
11 |
103,084,859 (GRCm39) |
missense |
unknown |
|
R8921:Fmnl1
|
UTSW |
11 |
103,087,967 (GRCm39) |
missense |
unknown |
|
R8946:Fmnl1
|
UTSW |
11 |
103,071,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R8968:Fmnl1
|
UTSW |
11 |
103,077,444 (GRCm39) |
small deletion |
probably benign |
|
R9114:Fmnl1
|
UTSW |
11 |
103,087,327 (GRCm39) |
missense |
unknown |
|
R9696:Fmnl1
|
UTSW |
11 |
103,086,297 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCACCCAAATGCTAGTGCAGCC -3'
(R):5'- TGTAACATCCAGATCCCCTTGGACC -3'
Sequencing Primer
(F):5'- TGCTAGTGCAGCCAGAGTAG -3'
(R):5'- ATCCCCTTGGACCAGTCCC -3'
|
Posted On |
2013-04-11 |