Incidental Mutation 'R7006:Fmnl2'
ID |
544702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fmnl2
|
Ensembl Gene |
ENSMUSG00000036053 |
Gene Name |
formin-like 2 |
Synonyms |
man, 5430425K04Rik |
MMRRC Submission |
045011-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7006 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
52747872-53023816 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 52998266 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 544
(Q544K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049483]
[ENSMUST00000050719]
[ENSMUST00000090952]
[ENSMUST00000127122]
[ENSMUST00000155586]
|
AlphaFold |
A2APV2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049483
AA Change: Q544K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000047260 Gene: ENSMUSG00000036053 AA Change: Q544K
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
8e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000050719
AA Change: Q544K
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000057084 Gene: ENSMUSG00000036053 AA Change: Q544K
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
low complexity region
|
549 |
568 |
N/A |
INTRINSIC |
FH2
|
581 |
1018 |
1.66e-124 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000090952
AA Change: Q544K
PolyPhen 2
Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000088472 Gene: ENSMUSG00000036053 AA Change: Q544K
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
6e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
low complexity region
|
1063 |
1075 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127122
AA Change: Q544K
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118658 Gene: ENSMUSG00000036053 AA Change: Q544K
Domain | Start | End | E-Value | Type |
Drf_GBD
|
23 |
275 |
1.19e-96 |
SMART |
Drf_FH3
|
278 |
482 |
8.68e-76 |
SMART |
low complexity region
|
518 |
540 |
N/A |
INTRINSIC |
SCOP:d1jvr__
|
549 |
588 |
7e-3 |
SMART |
FH2
|
615 |
1052 |
1.66e-124 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000155586
AA Change: Q544K
|
SMART Domains |
Protein: ENSMUSP00000117822 Gene: ENSMUSG00000036053 AA Change: Q544K
Domain | Start | End | E-Value | Type |
Pfam:FH2
|
1 |
131 |
2e-33 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
G |
4: 144,447,853 (GRCm39) |
V41A |
probably benign |
Het |
Adcy2 |
G |
A |
13: 69,036,139 (GRCm39) |
T174M |
probably damaging |
Het |
Ankfy1 |
T |
A |
11: 72,631,290 (GRCm39) |
I412N |
probably benign |
Het |
AW146154 |
T |
C |
7: 41,130,648 (GRCm39) |
E156G |
possibly damaging |
Het |
B4galnt1 |
T |
C |
10: 127,005,700 (GRCm39) |
L267P |
probably benign |
Het |
Bod1l |
T |
C |
5: 41,989,895 (GRCm39) |
E276G |
probably damaging |
Het |
Ccdc187 |
T |
C |
2: 26,171,102 (GRCm39) |
T459A |
probably benign |
Het |
Ccdc196 |
T |
A |
12: 78,255,702 (GRCm39) |
*177R |
probably null |
Het |
Cep72 |
G |
A |
13: 74,198,427 (GRCm39) |
Q311* |
probably null |
Het |
Cir1 |
T |
C |
2: 73,140,834 (GRCm39) |
Q45R |
probably damaging |
Het |
Ciz1 |
T |
C |
2: 32,261,127 (GRCm39) |
|
probably null |
Het |
Crtap |
G |
T |
9: 114,215,391 (GRCm39) |
A166E |
probably damaging |
Het |
Dipk1a |
A |
G |
5: 108,058,027 (GRCm39) |
V132A |
probably benign |
Het |
Dmp1 |
A |
G |
5: 104,360,188 (GRCm39) |
D288G |
probably benign |
Het |
Fhad1 |
CGG |
CG |
4: 141,645,602 (GRCm39) |
|
probably null |
Het |
Gpsm1 |
T |
C |
2: 26,212,572 (GRCm39) |
L72P |
probably damaging |
Het |
Gys1 |
G |
A |
7: 45,089,437 (GRCm39) |
A199T |
probably damaging |
Het |
Kcnq3 |
A |
C |
15: 65,892,165 (GRCm39) |
Y403* |
probably null |
Het |
Kcp |
A |
C |
6: 29,499,169 (GRCm39) |
Y298D |
probably damaging |
Het |
Kif5c |
T |
C |
2: 49,625,526 (GRCm39) |
S599P |
probably damaging |
Het |
Krt20 |
A |
T |
11: 99,328,587 (GRCm39) |
Y113N |
probably benign |
Het |
Mcm8 |
T |
G |
2: 132,665,181 (GRCm39) |
V191G |
probably damaging |
Het |
Msr1 |
T |
A |
8: 40,042,423 (GRCm39) |
D384V |
probably damaging |
Het |
Mtpap |
A |
C |
18: 4,380,873 (GRCm39) |
S184R |
possibly damaging |
Het |
Npc1l1 |
G |
A |
11: 6,167,731 (GRCm39) |
T1020M |
probably benign |
Het |
Nphp4 |
A |
G |
4: 152,573,259 (GRCm39) |
T66A |
probably benign |
Het |
Or1o3 |
T |
A |
17: 37,573,625 (GRCm39) |
*310L |
probably null |
Het |
Or4f14 |
C |
A |
2: 111,742,601 (GRCm39) |
V225L |
probably benign |
Het |
Or8h10 |
G |
A |
2: 86,808,303 (GRCm39) |
T279I |
probably damaging |
Het |
Or8k18 |
T |
A |
2: 86,085,572 (GRCm39) |
Q155L |
probably benign |
Het |
Phf11d |
G |
T |
14: 59,590,823 (GRCm39) |
T178K |
probably benign |
Het |
Ppm1d |
A |
G |
11: 85,227,977 (GRCm39) |
K298E |
possibly damaging |
Het |
Rab2b |
A |
T |
14: 52,503,690 (GRCm39) |
I144K |
probably benign |
Het |
Stoml1 |
A |
G |
9: 58,167,523 (GRCm39) |
D5G |
probably damaging |
Het |
Styxl2 |
T |
C |
1: 165,926,663 (GRCm39) |
N983S |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,626,188 (GRCm39) |
V515A |
probably damaging |
Het |
Tas1r3 |
A |
G |
4: 155,947,361 (GRCm39) |
V108A |
possibly damaging |
Het |
Tifab |
T |
C |
13: 56,324,059 (GRCm39) |
Y128C |
probably benign |
Het |
Tmc6 |
G |
T |
11: 117,665,083 (GRCm39) |
R397S |
probably damaging |
Het |
Tnpo3 |
C |
T |
6: 29,589,162 (GRCm39) |
A63T |
probably damaging |
Het |
Trgc4 |
T |
A |
13: 19,528,995 (GRCm39) |
|
probably benign |
Het |
Usp16 |
G |
T |
16: 87,268,724 (GRCm39) |
C284F |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,267,441 (GRCm39) |
D319G |
probably damaging |
Het |
Xpnpep3 |
T |
A |
15: 81,326,649 (GRCm39) |
W347R |
probably damaging |
Het |
Zfp180 |
G |
T |
7: 23,804,537 (GRCm39) |
E319* |
probably null |
Het |
|
Other mutations in Fmnl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00401:Fmnl2
|
APN |
2 |
53,004,929 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00960:Fmnl2
|
APN |
2 |
53,013,494 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01343:Fmnl2
|
APN |
2 |
53,013,557 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01790:Fmnl2
|
APN |
2 |
53,008,380 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:Fmnl2
|
APN |
2 |
53,016,863 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02613:Fmnl2
|
APN |
2 |
52,963,747 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02712:Fmnl2
|
APN |
2 |
52,926,510 (GRCm39) |
splice site |
probably benign |
|
IGL02715:Fmnl2
|
APN |
2 |
52,962,222 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02750:Fmnl2
|
APN |
2 |
52,993,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL02832:Fmnl2
|
APN |
2 |
52,748,261 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL02975:Fmnl2
|
APN |
2 |
52,991,494 (GRCm39) |
missense |
probably benign |
0.45 |
Beefeater
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
waterloo
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4280001:Fmnl2
|
UTSW |
2 |
53,008,208 (GRCm39) |
missense |
unknown |
|
R0529:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R0571:Fmnl2
|
UTSW |
2 |
52,944,503 (GRCm39) |
missense |
probably benign |
0.01 |
R0707:Fmnl2
|
UTSW |
2 |
52,944,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1172:Fmnl2
|
UTSW |
2 |
52,962,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R1473:Fmnl2
|
UTSW |
2 |
52,748,219 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1533:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1536:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1537:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1547:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1548:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1549:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1604:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1608:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R1615:Fmnl2
|
UTSW |
2 |
53,008,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R1792:Fmnl2
|
UTSW |
2 |
52,932,329 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1965:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R1970:Fmnl2
|
UTSW |
2 |
52,995,588 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2012:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2112:Fmnl2
|
UTSW |
2 |
52,995,549 (GRCm39) |
missense |
probably damaging |
1.00 |
R2427:Fmnl2
|
UTSW |
2 |
53,006,991 (GRCm39) |
missense |
probably damaging |
0.96 |
R4084:Fmnl2
|
UTSW |
2 |
52,997,507 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4095:Fmnl2
|
UTSW |
2 |
52,991,535 (GRCm39) |
missense |
probably damaging |
0.99 |
R4607:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4608:Fmnl2
|
UTSW |
2 |
52,993,728 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4720:Fmnl2
|
UTSW |
2 |
52,997,552 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4731:Fmnl2
|
UTSW |
2 |
53,007,081 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4947:Fmnl2
|
UTSW |
2 |
52,963,722 (GRCm39) |
missense |
probably benign |
0.32 |
R5015:Fmnl2
|
UTSW |
2 |
52,993,773 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5402:Fmnl2
|
UTSW |
2 |
53,018,794 (GRCm39) |
missense |
probably damaging |
0.97 |
R5731:Fmnl2
|
UTSW |
2 |
53,008,149 (GRCm39) |
splice site |
probably null |
|
R5766:Fmnl2
|
UTSW |
2 |
52,991,466 (GRCm39) |
missense |
probably damaging |
1.00 |
R5945:Fmnl2
|
UTSW |
2 |
53,004,211 (GRCm39) |
missense |
probably damaging |
0.99 |
R6093:Fmnl2
|
UTSW |
2 |
53,004,880 (GRCm39) |
missense |
probably damaging |
1.00 |
R6210:Fmnl2
|
UTSW |
2 |
53,020,457 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6287:Fmnl2
|
UTSW |
2 |
52,904,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R6661:Fmnl2
|
UTSW |
2 |
52,998,297 (GRCm39) |
missense |
probably damaging |
0.98 |
R6967:Fmnl2
|
UTSW |
2 |
52,987,344 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7146:Fmnl2
|
UTSW |
2 |
52,958,552 (GRCm39) |
missense |
|
|
R7173:Fmnl2
|
UTSW |
2 |
53,004,202 (GRCm39) |
missense |
unknown |
|
R7176:Fmnl2
|
UTSW |
2 |
53,004,162 (GRCm39) |
missense |
unknown |
|
R7182:Fmnl2
|
UTSW |
2 |
52,997,453 (GRCm39) |
missense |
unknown |
|
R7201:Fmnl2
|
UTSW |
2 |
52,963,666 (GRCm39) |
missense |
unknown |
|
R7470:Fmnl2
|
UTSW |
2 |
52,932,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R7481:Fmnl2
|
UTSW |
2 |
52,998,443 (GRCm39) |
missense |
unknown |
|
R7691:Fmnl2
|
UTSW |
2 |
52,991,510 (GRCm39) |
missense |
unknown |
|
R7699:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7700:Fmnl2
|
UTSW |
2 |
52,926,520 (GRCm39) |
missense |
|
|
R7722:Fmnl2
|
UTSW |
2 |
52,944,479 (GRCm39) |
missense |
|
|
R7775:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R7824:Fmnl2
|
UTSW |
2 |
52,963,692 (GRCm39) |
missense |
unknown |
|
R8282:Fmnl2
|
UTSW |
2 |
52,997,678 (GRCm39) |
critical splice donor site |
probably null |
|
R8774:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8774-TAIL:Fmnl2
|
UTSW |
2 |
52,932,321 (GRCm39) |
missense |
|
|
R8816:Fmnl2
|
UTSW |
2 |
53,004,214 (GRCm39) |
missense |
unknown |
|
R8832:Fmnl2
|
UTSW |
2 |
52,944,584 (GRCm39) |
missense |
|
|
R8868:Fmnl2
|
UTSW |
2 |
53,016,077 (GRCm39) |
missense |
unknown |
|
R8990:Fmnl2
|
UTSW |
2 |
53,016,971 (GRCm39) |
missense |
unknown |
|
R9412:Fmnl2
|
UTSW |
2 |
53,007,016 (GRCm39) |
missense |
unknown |
|
R9502:Fmnl2
|
UTSW |
2 |
52,998,312 (GRCm39) |
missense |
unknown |
|
R9532:Fmnl2
|
UTSW |
2 |
53,006,941 (GRCm39) |
missense |
unknown |
|
R9602:Fmnl2
|
UTSW |
2 |
53,013,587 (GRCm39) |
critical splice donor site |
probably null |
|
R9760:Fmnl2
|
UTSW |
2 |
52,944,527 (GRCm39) |
missense |
|
|
Z1188:Fmnl2
|
UTSW |
2 |
53,004,883 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTAAGGAAATGCTACCCTTGTG -3'
(R):5'- TGTAGGTGAAGAAGTCCCAGGC -3'
Sequencing Primer
(F):5'- AGGAAATGCTACCCTTGTGATTTTG -3'
(R):5'- AGAAGTCCCAGGCAGCGG -3'
|
Posted On |
2019-05-13 |