Incidental Mutation 'R6958:Fmnl1'
ID |
541596 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
045009-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6958 (G1)
|
Quality Score |
119.008 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
start codon destroyed |
DNA Base Change (assembly) |
T to A
at 103062140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151439
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042286]
[ENSMUST00000107027]
[ENSMUST00000218163]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042286
AA Change: M1K
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: M1K
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
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: M1K
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 |
probably null
Transcript: ENSMUST00000218163
AA Change: M1K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
|
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410004B18Rik |
A |
G |
3: 145,649,558 (GRCm39) |
D159G |
probably benign |
Het |
Ahnak |
A |
G |
19: 8,992,579 (GRCm39) |
N4621S |
possibly damaging |
Het |
Ankrd16 |
C |
T |
2: 11,784,604 (GRCm39) |
A144V |
probably damaging |
Het |
Bhmt1b |
G |
A |
18: 87,775,046 (GRCm39) |
E190K |
probably benign |
Het |
Ccdc14 |
T |
C |
16: 34,511,176 (GRCm39) |
V2A |
probably damaging |
Het |
Ccdc187 |
C |
T |
2: 26,179,731 (GRCm39) |
V243I |
probably benign |
Het |
Cdk12 |
A |
T |
11: 98,132,525 (GRCm39) |
I985F |
unknown |
Het |
Cfap65 |
T |
C |
1: 74,971,058 (GRCm39) |
T87A |
possibly damaging |
Het |
Cilp2 |
G |
A |
8: 70,335,190 (GRCm39) |
P603S |
probably benign |
Het |
Cntnap5b |
A |
G |
1: 100,202,197 (GRCm39) |
E348G |
probably benign |
Het |
Cpa6 |
C |
T |
1: 10,665,913 (GRCm39) |
V42M |
probably damaging |
Het |
Cpsf4 |
A |
G |
5: 145,112,402 (GRCm39) |
I115V |
probably benign |
Het |
Dnah11 |
G |
T |
12: 117,897,544 (GRCm39) |
P3562Q |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,967,167 (GRCm39) |
F1664L |
probably damaging |
Het |
Dpysl3 |
T |
C |
18: 43,571,067 (GRCm39) |
Q69R |
probably benign |
Het |
Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
Eif2ak3 |
T |
A |
6: 70,869,667 (GRCm39) |
C785S |
probably benign |
Het |
Elk4 |
T |
A |
1: 131,945,570 (GRCm39) |
F149L |
probably damaging |
Het |
Fgf14 |
A |
G |
14: 124,914,009 (GRCm39) |
W41R |
probably benign |
Het |
Foxk2 |
A |
T |
11: 121,190,563 (GRCm39) |
Q568L |
probably benign |
Het |
Fryl |
T |
G |
5: 73,231,272 (GRCm39) |
I1602L |
possibly damaging |
Het |
Gfm2 |
A |
G |
13: 97,282,744 (GRCm39) |
I75V |
probably damaging |
Het |
Gm3233 |
T |
A |
10: 77,595,369 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
G |
T |
4: 155,627,651 (GRCm39) |
|
probably null |
Het |
Gphn |
G |
T |
12: 78,727,073 (GRCm39) |
V662L |
possibly damaging |
Het |
Il3 |
A |
C |
11: 54,157,937 (GRCm39) |
V47G |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,020,673 (GRCm39) |
D401G |
possibly damaging |
Het |
Kdm3b |
T |
A |
18: 34,941,336 (GRCm39) |
S276T |
probably benign |
Het |
Krtap6-2 |
A |
G |
16: 89,216,698 (GRCm39) |
S90P |
unknown |
Het |
Lars1 |
C |
T |
18: 42,369,704 (GRCm39) |
V394I |
probably damaging |
Het |
Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
Lrp10 |
A |
G |
14: 54,707,278 (GRCm39) |
|
probably benign |
Het |
Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
Lzts2 |
G |
T |
19: 45,012,582 (GRCm39) |
|
probably benign |
Het |
Msantd2 |
A |
G |
9: 37,434,753 (GRCm39) |
E331G |
probably damaging |
Het |
Myo15a |
G |
A |
11: 60,394,451 (GRCm39) |
G1218S |
probably benign |
Het |
Myom2 |
G |
A |
8: 15,167,741 (GRCm39) |
A1109T |
probably null |
Het |
Nhp2 |
A |
G |
11: 51,513,934 (GRCm39) |
T118A |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,176,638 (GRCm39) |
Y972C |
probably damaging |
Het |
Nxpe2 |
A |
T |
9: 48,237,566 (GRCm39) |
C230S |
probably damaging |
Het |
Or12d13 |
T |
C |
17: 37,647,308 (GRCm39) |
I272V |
probably benign |
Het |
Or51g2 |
A |
G |
7: 102,623,091 (GRCm39) |
L36P |
possibly damaging |
Het |
Or5w8 |
T |
C |
2: 87,688,295 (GRCm39) |
Y259H |
probably damaging |
Het |
Pfkfb4 |
A |
T |
9: 108,839,615 (GRCm39) |
N244I |
probably damaging |
Het |
Pi4ka |
C |
T |
16: 17,143,091 (GRCm39) |
R24Q |
probably damaging |
Het |
Pkd2l2 |
C |
A |
18: 34,542,543 (GRCm39) |
Y8* |
probably null |
Het |
Pramel20 |
A |
T |
4: 143,297,829 (GRCm39) |
D83V |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,113,153 (GRCm39) |
N44K |
probably benign |
Het |
Sds |
G |
A |
5: 120,619,537 (GRCm39) |
V149M |
probably damaging |
Het |
Slc22a30 |
A |
G |
19: 8,364,065 (GRCm39) |
F204L |
probably damaging |
Het |
Slc26a7 |
C |
T |
4: 14,506,442 (GRCm39) |
A636T |
probably benign |
Het |
Slc27a1 |
C |
T |
8: 72,038,083 (GRCm39) |
A577V |
possibly damaging |
Het |
Spata13 |
A |
T |
14: 60,989,300 (GRCm39) |
T319S |
possibly damaging |
Het |
Styxl2 |
T |
A |
1: 165,935,565 (GRCm39) |
D211V |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,694,532 (GRCm39) |
D29G |
probably damaging |
Het |
Tex15 |
A |
T |
8: 34,060,899 (GRCm39) |
I110L |
probably benign |
Het |
Treml2 |
A |
G |
17: 48,615,180 (GRCm39) |
T222A |
probably damaging |
Het |
Trpd52l3 |
A |
T |
19: 29,981,546 (GRCm39) |
L100F |
probably damaging |
Het |
Ttf2 |
C |
T |
3: 100,853,248 (GRCm39) |
E975K |
probably benign |
Het |
Vmn1r193 |
T |
A |
13: 22,404,144 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
A |
G |
11: 23,235,855 (GRCm39) |
T648A |
probably benign |
Het |
Zfp641 |
C |
T |
15: 98,190,832 (GRCm39) |
V71I |
possibly 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 |
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 |
|
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'- AGTTCGAAAATCGCCGAGG -3'
(R):5'- AAGATGACAGTGTTACTCCTACCC -3'
Sequencing Primer
(F):5'- AACCCTACTTCCTCCCCGAG -3'
(R):5'- TGGACCAGGGATCTCCAAG -3'
|
Posted On |
2018-11-28 |