Incidental Mutation 'R1794:Fmnl1'
ID |
202066 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl1
|
Ensembl Gene |
ENSMUSG00000055805 |
Gene Name |
formin-like 1 |
Synonyms |
formin-related gene in leukocytes, 8030453N10Rik |
MMRRC Submission |
039824-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R1794 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
103061933-103089727 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103087973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 40
(S40P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133299
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021323]
[ENSMUST00000042286]
[ENSMUST00000107026]
[ENSMUST00000107027]
[ENSMUST00000129726]
[ENSMUST00000218163]
[ENSMUST00000172850]
[ENSMUST00000174567]
|
AlphaFold |
Q9JL26 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000021322
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000021323
|
SMART Domains |
Protein: ENSMUSP00000021323 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
7.23e1 |
SMART |
EFh
|
145 |
173 |
6.68e-1 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000042286
AA Change: S983P
|
SMART Domains |
Protein: ENSMUSP00000046296 Gene: ENSMUSG00000055805 AA Change: S983P
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 benign
Transcript: ENSMUST00000107026
|
SMART Domains |
Protein: ENSMUSP00000102641 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
40 |
68 |
7.23e1 |
SMART |
EFh
|
76 |
104 |
6.68e-1 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000107027
AA Change: S983P
|
SMART Domains |
Protein: ENSMUSP00000102642 Gene: ENSMUSG00000055805 AA Change: S983P
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 benign
Transcript: ENSMUST00000129726
AA Change: S40P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133299 Gene: ENSMUSG00000055805 AA Change: S40P
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: ENSMUST00000140559
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174079
|
Predicted Effect |
unknown
Transcript: ENSMUST00000218163
AA Change: S989P
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172850
|
SMART Domains |
Protein: ENSMUSP00000139837 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
EFh
|
109 |
137 |
3.5e-1 |
SMART |
EFh
|
145 |
173 |
3.2e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174567
|
SMART Domains |
Protein: ENSMUSP00000134292 Gene: ENSMUSG00000020940
Domain | Start | End | E-Value | Type |
SCOP:d1mr8a_
|
153 |
209 |
5e-8 |
SMART |
Blast:EFh
|
159 |
187 |
4e-12 |
BLAST |
|
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.8%
- 20x: 91.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa7 |
A |
G |
14: 20,521,535 (GRCm39) |
Y54H |
unknown |
Het |
Arhgef3 |
A |
G |
14: 27,119,562 (GRCm39) |
T331A |
probably benign |
Het |
Arhgef40 |
G |
T |
14: 52,227,387 (GRCm39) |
C477F |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp13a5 |
C |
A |
16: 29,140,527 (GRCm39) |
R343L |
probably damaging |
Het |
Brdt |
ACAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGC |
5: 107,507,719 (GRCm39) |
|
probably benign |
Het |
Btbd2 |
G |
T |
10: 80,479,747 (GRCm39) |
D426E |
probably damaging |
Het |
Cabin1 |
A |
C |
10: 75,561,579 (GRCm39) |
I974R |
possibly damaging |
Het |
Cacna1i |
G |
A |
15: 80,273,323 (GRCm39) |
V1670M |
probably damaging |
Het |
Cc2d2a |
C |
A |
5: 43,845,594 (GRCm39) |
Q288K |
probably damaging |
Het |
Ccl20 |
T |
A |
1: 83,095,550 (GRCm39) |
I37K |
possibly damaging |
Het |
Cdcp1 |
A |
G |
9: 123,019,159 (GRCm39) |
V40A |
probably benign |
Het |
Cdcp1 |
T |
C |
9: 123,044,896 (GRCm39) |
T27A |
probably benign |
Het |
Cdh4 |
C |
T |
2: 179,528,635 (GRCm39) |
T581I |
probably damaging |
Het |
Cgn |
A |
G |
3: 94,669,864 (GRCm39) |
|
probably null |
Het |
Col7a1 |
G |
A |
9: 108,794,996 (GRCm39) |
G1493D |
unknown |
Het |
Creb3 |
A |
G |
4: 43,563,302 (GRCm39) |
E133G |
probably benign |
Het |
Dchs1 |
T |
C |
7: 105,420,927 (GRCm39) |
T498A |
probably benign |
Het |
Dis3l |
A |
C |
9: 64,225,058 (GRCm39) |
V413G |
possibly damaging |
Het |
Dnah6 |
T |
C |
6: 73,001,941 (GRCm39) |
E3865G |
probably damaging |
Het |
Fam219b |
A |
G |
9: 57,446,564 (GRCm39) |
Y139C |
probably damaging |
Het |
Fat3 |
A |
T |
9: 15,908,432 (GRCm39) |
Y2523* |
probably null |
Het |
Fat3 |
A |
T |
9: 15,908,434 (GRCm39) |
Y2523N |
probably benign |
Het |
Gm4792 |
T |
C |
10: 94,134,352 (GRCm39) |
D6G |
unknown |
Het |
Hhat |
G |
T |
1: 192,376,214 (GRCm39) |
Y306* |
probably null |
Het |
Hmcn1 |
A |
G |
1: 150,474,036 (GRCm39) |
I4802T |
probably benign |
Het |
Hmcn1 |
G |
A |
1: 150,502,903 (GRCm39) |
T3908I |
probably damaging |
Het |
Hsph1 |
A |
T |
5: 149,554,238 (GRCm39) |
N79K |
probably damaging |
Het |
Ikbke |
T |
A |
1: 131,186,955 (GRCm39) |
Y579F |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,276,957 (GRCm39) |
D838G |
probably benign |
Het |
Klhdc7b |
T |
C |
15: 89,271,223 (GRCm39) |
S702P |
probably benign |
Het |
Lingo3 |
C |
A |
10: 80,671,432 (GRCm39) |
R166L |
probably benign |
Het |
Lins1 |
T |
C |
7: 66,361,657 (GRCm39) |
F436S |
probably damaging |
Het |
Lman1 |
T |
C |
18: 66,124,755 (GRCm39) |
D328G |
probably benign |
Het |
Lox |
A |
G |
18: 52,661,379 (GRCm39) |
C232R |
probably damaging |
Het |
Lrrc59 |
T |
C |
11: 94,529,421 (GRCm39) |
V165A |
probably benign |
Het |
Map9 |
A |
G |
3: 82,287,528 (GRCm39) |
D50G |
probably damaging |
Het |
Marchf1 |
T |
A |
8: 66,839,594 (GRCm39) |
Y126N |
possibly damaging |
Het |
Mcf2l |
T |
C |
8: 12,965,982 (GRCm39) |
F3L |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Nin |
G |
A |
12: 70,090,569 (GRCm39) |
Q949* |
probably null |
Het |
Nlgn3 |
A |
G |
X: 100,363,639 (GRCm39) |
H636R |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,006,863 (GRCm39) |
D411G |
possibly damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,364 (GRCm39) |
Y30C |
probably damaging |
Het |
Or5b24 |
G |
C |
19: 12,912,332 (GRCm39) |
A77P |
probably damaging |
Het |
Pate7 |
T |
A |
9: 35,688,418 (GRCm39) |
I56F |
probably benign |
Het |
Plekha7 |
A |
G |
7: 115,739,916 (GRCm39) |
V579A |
probably damaging |
Het |
Prrc2c |
T |
C |
1: 162,533,528 (GRCm39) |
|
probably benign |
Het |
Rab7b |
T |
C |
1: 131,624,806 (GRCm39) |
|
probably null |
Het |
Reg3b |
G |
T |
6: 78,349,197 (GRCm39) |
|
probably null |
Het |
Rgs20 |
A |
G |
1: 4,980,795 (GRCm39) |
Y177H |
probably damaging |
Het |
Ripk3 |
G |
T |
14: 56,022,786 (GRCm39) |
N379K |
probably benign |
Het |
Rnf220 |
G |
T |
4: 117,164,765 (GRCm39) |
Q7K |
probably benign |
Het |
Ros1 |
T |
A |
10: 52,000,199 (GRCm39) |
K1109* |
probably null |
Het |
Slc22a7 |
T |
G |
17: 46,744,079 (GRCm39) |
R460S |
probably damaging |
Het |
Slc4a2 |
A |
G |
5: 24,644,326 (GRCm39) |
M975V |
probably damaging |
Het |
Slc4a3 |
A |
T |
1: 75,533,952 (GRCm39) |
I1100F |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,950 (GRCm39) |
E207G |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,058,656 (GRCm39) |
E369G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,890,434 (GRCm39) |
E44G |
probably benign |
Het |
Tcf4 |
T |
A |
18: 69,790,924 (GRCm39) |
M178K |
probably benign |
Het |
Tex2 |
T |
C |
11: 106,458,728 (GRCm39) |
|
probably benign |
Het |
Tjp1 |
A |
T |
7: 64,972,877 (GRCm39) |
I521N |
probably damaging |
Het |
Tmem203 |
A |
G |
2: 25,146,006 (GRCm39) |
T109A |
probably benign |
Het |
Tmem50b |
T |
C |
16: 91,374,917 (GRCm39) |
I126V |
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,595,006 (GRCm39) |
F3813L |
probably benign |
Het |
Vmn1r203 |
C |
T |
13: 22,708,521 (GRCm39) |
R101W |
probably damaging |
Het |
Vmn2r79 |
G |
A |
7: 86,650,621 (GRCm39) |
V136I |
probably benign |
Het |
Wdr38 |
A |
G |
2: 38,890,741 (GRCm39) |
Y205C |
probably damaging |
Het |
Zfp248 |
A |
G |
6: 118,406,264 (GRCm39) |
F442L |
probably damaging |
Het |
Znrf4 |
A |
G |
17: 56,818,599 (GRCm39) |
I236T |
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 |
|
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'- ATCCTGTGTGGGAGAACAGG -3'
(R):5'- AATCCCATTCCTGAGCCTGG -3'
Sequencing Primer
(F):5'- TGGGAGAACAGGGATGTGGTATC -3'
(R):5'- CTGAGGTATCAGCAGCTGC -3'
|
Posted On |
2014-06-23 |