Incidental Mutation 'R4689:Fmnl1'
| ID |
386455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fmnl1
|
| Ensembl Gene |
ENSMUSG00000055805 |
| Gene Name |
formin-like 1 |
| Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
| MMRRC Submission |
041940-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.139)
|
| Stock # |
R4689 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 103084562 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
|
| AlphaFold |
Q9JL26 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000042286
|
| SMART Domains |
Protein: ENSMUSP00000046296
Gene: ENSMUSG00000055805
| 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 null
Transcript: ENSMUST00000107027
|
| SMART Domains |
Protein: ENSMUSP00000102642
Gene: ENSMUSG00000055805
| 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 |
probably benign
Transcript: ENSMUST00000129726
|
| SMART Domains |
Protein: ENSMUSP00000133299
Gene: ENSMUSG00000055805
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FH2
|
1 |
50 |
8.2e-10 |
PFAM |
|
low complexity region
|
124 |
139 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154871
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218163
|
| Meta Mutation Damage Score |
0.9595 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
97% (72/74) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,996 (GRCm39) |
V336L |
probably benign |
Het |
| Acbd4 |
T |
C |
11: 102,996,194 (GRCm39) |
L165P |
possibly damaging |
Het |
| Adam10 |
T |
C |
9: 70,673,236 (GRCm39) |
S456P |
possibly damaging |
Het |
| Adgre4 |
T |
C |
17: 56,109,096 (GRCm39) |
F368L |
probably damaging |
Het |
| Ahcyl1 |
G |
T |
3: 107,572,834 (GRCm39) |
Y528* |
probably null |
Het |
| Aldh3b3 |
G |
A |
19: 4,014,516 (GRCm39) |
V84M |
probably damaging |
Het |
| Cdca8 |
C |
T |
4: 124,824,896 (GRCm39) |
G78E |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,254,899 (GRCm39) |
D152G |
probably benign |
Het |
| Cyp2c67 |
T |
C |
19: 39,627,032 (GRCm39) |
Y266C |
probably benign |
Het |
| Dkk4 |
T |
C |
8: 23,115,336 (GRCm39) |
F62S |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,427,994 (GRCm39) |
V207I |
probably benign |
Het |
| Dthd1 |
T |
C |
5: 63,000,255 (GRCm39) |
C526R |
probably damaging |
Het |
| Dubr |
A |
T |
16: 50,552,866 (GRCm39) |
|
noncoding transcript |
Het |
| F5 |
T |
C |
1: 163,979,542 (GRCm39) |
|
probably benign |
Het |
| Flcn |
A |
C |
11: 59,691,870 (GRCm39) |
W260G |
possibly damaging |
Het |
| Frem2 |
A |
T |
3: 53,455,056 (GRCm39) |
D2173E |
probably benign |
Het |
| Fstl4 |
C |
T |
11: 52,959,477 (GRCm39) |
Q173* |
probably null |
Het |
| Gfra3 |
G |
A |
18: 34,823,640 (GRCm39) |
P381S |
unknown |
Het |
| Gm28308 |
C |
A |
6: 52,190,291 (GRCm39) |
|
probably benign |
Het |
| Gm8730 |
T |
A |
8: 103,592,379 (GRCm39) |
|
noncoding transcript |
Het |
| Gzmd |
T |
C |
14: 56,368,683 (GRCm39) |
|
probably null |
Het |
| Hexb |
A |
G |
13: 97,317,600 (GRCm39) |
Y366H |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,322,046 (GRCm39) |
H4566L |
probably benign |
Het |
| Ifi213 |
G |
A |
1: 173,417,986 (GRCm39) |
T142I |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 65,010,513 (GRCm39) |
C1271S |
probably damaging |
Het |
| Krtap9-5 |
G |
T |
11: 99,840,286 (GRCm39) |
C329F |
unknown |
Het |
| Larp1 |
G |
T |
11: 57,932,439 (GRCm39) |
G207W |
probably damaging |
Het |
| Lfng |
A |
G |
5: 140,600,194 (GRCm39) |
D368G |
probably damaging |
Het |
| Mbd5 |
G |
A |
2: 49,148,291 (GRCm39) |
V834I |
possibly damaging |
Het |
| Mterf1b |
T |
A |
5: 4,247,263 (GRCm39) |
Y301* |
probably null |
Het |
| Myh7b |
T |
C |
2: 155,472,434 (GRCm39) |
I1305T |
possibly damaging |
Het |
| Myo16 |
T |
C |
8: 10,488,890 (GRCm39) |
V687A |
probably damaging |
Het |
| Naip2 |
A |
T |
13: 100,285,320 (GRCm39) |
I1292N |
probably damaging |
Het |
| Nmral1 |
A |
G |
16: 4,532,422 (GRCm39) |
F130L |
probably damaging |
Het |
| Nos1 |
A |
G |
5: 118,017,450 (GRCm39) |
N271S |
probably benign |
Het |
| Nrap |
A |
G |
19: 56,374,458 (GRCm39) |
S23P |
probably damaging |
Het |
| Or12d16-ps1 |
A |
T |
17: 37,705,662 (GRCm39) |
N77I |
probably damaging |
Het |
| Or2aj4 |
A |
T |
16: 19,385,263 (GRCm39) |
Y123* |
probably null |
Het |
| Or4e2 |
T |
C |
14: 52,688,671 (GRCm39) |
I267T |
probably benign |
Het |
| Or6c210 |
T |
C |
10: 129,496,185 (GRCm39) |
V170A |
probably benign |
Het |
| Pkdcc |
C |
G |
17: 83,523,290 (GRCm39) |
C132W |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,350,144 (GRCm39) |
L265F |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,208,177 (GRCm39) |
T473A |
probably benign |
Het |
| Prpf3 |
G |
A |
3: 95,743,801 (GRCm39) |
Q451* |
probably null |
Het |
| Psma5-ps |
T |
A |
10: 85,150,065 (GRCm39) |
|
noncoding transcript |
Het |
| Ptprh |
T |
A |
7: 4,600,996 (GRCm39) |
D127V |
possibly damaging |
Het |
| Rab36 |
T |
C |
10: 74,877,765 (GRCm39) |
|
probably null |
Het |
| Rasa1 |
A |
T |
13: 85,386,282 (GRCm39) |
Y427* |
probably null |
Het |
| Rgs11 |
T |
C |
17: 26,423,521 (GRCm39) |
|
probably null |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,974,342 (GRCm39) |
V1087I |
probably benign |
Het |
| Slc39a10 |
A |
C |
1: 46,875,173 (GRCm39) |
M43R |
probably benign |
Het |
| Slc40a1 |
T |
A |
1: 45,951,473 (GRCm39) |
Q228L |
probably benign |
Het |
| Slc45a1 |
A |
T |
4: 150,722,996 (GRCm39) |
L296Q |
probably benign |
Het |
| Stambpl1 |
A |
G |
19: 34,213,691 (GRCm39) |
T307A |
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,644,225 (GRCm39) |
T705A |
possibly damaging |
Het |
| Tec |
G |
A |
5: 72,980,980 (GRCm39) |
|
probably benign |
Het |
| Trp63 |
A |
T |
16: 25,684,012 (GRCm39) |
T300S |
possibly damaging |
Het |
| Vmn1r235 |
A |
G |
17: 21,482,623 (GRCm39) |
H316R |
probably benign |
Het |
| Vmn2r1 |
A |
G |
3: 64,012,074 (GRCm39) |
H645R |
possibly damaging |
Het |
| Wdfy4 |
A |
G |
14: 32,831,505 (GRCm39) |
I907T |
possibly damaging |
Het |
| Zcchc10 |
A |
G |
11: 53,218,151 (GRCm39) |
T33A |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,710,560 (GRCm39) |
V761D |
probably damaging |
Het |
| Zfp358 |
T |
C |
8: 3,546,146 (GRCm39) |
|
probably null |
Het |
| Zfp661 |
G |
A |
2: 127,419,468 (GRCm39) |
P224L |
probably damaging |
Het |
| Zfp937 |
T |
C |
2: 150,078,706 (GRCm39) |
M33T |
probably damaging |
Het |
| Zfp955a |
T |
C |
17: 33,461,040 (GRCm39) |
H364R |
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 |
|
|
R0077:Fmnl1
|
UTSW |
11 |
103,080,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAGCAGAGTCAATTCCCGAAG -3'
(R):5'- TCCGGAACTTGGTCTGGATG -3'
Sequencing Primer
(F):5'- GAGTCAATTCCCGAAGCAGCATC -3'
(R):5'- TTTCACCCCTGGGAGCAAGAAAG -3'
|
| Posted On |
2016-06-03 |
Incidental Mutation