Incidental Mutation 'R5383:Inf2'
| ID |
424862 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inf2
|
| Ensembl Gene |
ENSMUSG00000037679 |
| Gene Name |
inverted formin, FH2 and WH2 domain containing |
| Synonyms |
2610204M08Rik, EG629699 |
| MMRRC Submission |
042958-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5383 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
112555218-112581991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112566579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 48
(V48D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098591
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101029]
[ENSMUST00000220786]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101029
AA Change: V48D
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098591
Gene: ENSMUSG00000037679
AA Change: V48D
| Domain | Start | End | E-Value | Type |
|---|
|
Drf_GBD
|
1 |
152 |
3.47e-34 |
SMART |
|
Drf_FH3
|
156 |
343 |
2.18e-58 |
SMART |
|
low complexity region
|
359 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
557 |
N/A |
INTRINSIC |
|
FH2
|
587 |
1030 |
1.96e-53 |
SMART |
|
WH2
|
1005 |
1020 |
1.68e-2 |
SMART |
|
Blast:FH2
|
1049 |
1179 |
3e-28 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220786
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222275
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
PHENOTYPE: Mice homozygous for a null allele display placental vasculopathy, restricted fetal growth, increased gestational length and transient increase in maternal blood pressure in the late stages of pregnancy. [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 |
|---|
| 1700010I14Rik |
A |
T |
17: 9,211,532 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Aadac |
T |
C |
3: 59,943,496 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,469,802 (GRCm39) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,373 (GRCm39) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,813,918 (GRCm39) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,501,994 (GRCm39) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,511,360 (GRCm39) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,767,236 (GRCm39) |
D1910V |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,864,479 (GRCm39) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 36,810,964 (GRCm39) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,192,755 (GRCm39) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,875,222 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,168,918 (GRCm39) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,041,397 (GRCm39) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,163 (GRCm39) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,095,409 (GRCm39) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,862,196 (GRCm39) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,775,342 (GRCm39) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,049,432 (GRCm39) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,103 (GRCm39) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,576 (GRCm39) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,609,017 (GRCm39) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,063,989 (GRCm39) |
D298G |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,955,275 (GRCm39) |
L961H |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,187,999 (GRCm39) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,088,789 (GRCm39) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,307,456 (GRCm39) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,335 (GRCm39) |
V25M |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,509 (GRCm39) |
L198* |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,421,457 (GRCm39) |
M1V |
probably null |
Het |
| Or5b122 |
T |
A |
19: 13,563,439 (GRCm39) |
M257K |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,231 (GRCm39) |
D857G |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,627,468 (GRCm39) |
H856Q |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,793,349 (GRCm39) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,140,617 (GRCm39) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,427 (GRCm39) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,539,969 (GRCm39) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 155,945,285 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,225,146 (GRCm39) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,203,597 (GRCm39) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,698 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,519,290 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,082,539 (GRCm39) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,901,340 (GRCm39) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,609,319 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
G |
15: 54,912,815 (GRCm39) |
I515T |
possibly damaging |
Het |
| Tdrd3 |
C |
T |
14: 87,718,227 (GRCm39) |
Q203* |
probably null |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,450,872 (GRCm39) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,725,833 (GRCm39) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,335,205 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,778,342 (GRCm39) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,070,886 (GRCm39) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,852,887 (GRCm39) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,323,681 (GRCm39) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,013,729 (GRCm39) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,820,270 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Inf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Inf2
|
APN |
12 |
112,578,290 (GRCm39) |
nonsense |
probably null |
|
|
IGL01582:Inf2
|
APN |
12 |
112,576,993 (GRCm39) |
missense |
unknown |
|
|
IGL02078:Inf2
|
APN |
12 |
112,568,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02534:Inf2
|
APN |
12 |
112,576,930 (GRCm39) |
missense |
unknown |
|
|
IGL03122:Inf2
|
APN |
12 |
112,570,663 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03296:Inf2
|
APN |
12 |
112,570,642 (GRCm39) |
nonsense |
probably null |
|
|
Talon
|
UTSW |
12 |
112,576,721 (GRCm39) |
splice site |
probably benign |
|
|
R0413:Inf2
|
UTSW |
12 |
112,568,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0552:Inf2
|
UTSW |
12 |
112,579,008 (GRCm39) |
intron |
probably benign |
|
|
R0920:Inf2
|
UTSW |
12 |
112,576,721 (GRCm39) |
splice site |
probably benign |
|
|
R1240:Inf2
|
UTSW |
12 |
112,577,210 (GRCm39) |
missense |
unknown |
|
|
R1452:Inf2
|
UTSW |
12 |
112,567,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1974:Inf2
|
UTSW |
12 |
112,574,771 (GRCm39) |
missense |
unknown |
|
|
R2422:Inf2
|
UTSW |
12 |
112,577,258 (GRCm39) |
missense |
unknown |
|
|
R3877:Inf2
|
UTSW |
12 |
112,577,264 (GRCm39) |
missense |
unknown |
|
|
R4108:Inf2
|
UTSW |
12 |
112,574,015 (GRCm39) |
missense |
unknown |
|
|
R4490:Inf2
|
UTSW |
12 |
112,566,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Inf2
|
UTSW |
12 |
112,578,473 (GRCm39) |
splice site |
probably null |
|
|
R5074:Inf2
|
UTSW |
12 |
112,578,473 (GRCm39) |
splice site |
probably null |
|
|
R5306:Inf2
|
UTSW |
12 |
112,567,987 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5569:Inf2
|
UTSW |
12 |
112,568,113 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5664:Inf2
|
UTSW |
12 |
112,578,162 (GRCm39) |
missense |
unknown |
|
|
R6157:Inf2
|
UTSW |
12 |
112,571,222 (GRCm39) |
unclassified |
probably benign |
|
|
R6221:Inf2
|
UTSW |
12 |
112,570,179 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6429:Inf2
|
UTSW |
12 |
112,570,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6955:Inf2
|
UTSW |
12 |
112,577,165 (GRCm39) |
missense |
unknown |
|
|
R7423:Inf2
|
UTSW |
12 |
112,576,172 (GRCm39) |
missense |
unknown |
|
|
R7444:Inf2
|
UTSW |
12 |
112,571,821 (GRCm39) |
missense |
unknown |
|
|
R7496:Inf2
|
UTSW |
12 |
112,566,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7605:Inf2
|
UTSW |
12 |
112,567,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7678:Inf2
|
UTSW |
12 |
112,573,428 (GRCm39) |
missense |
unknown |
|
|
R7708:Inf2
|
UTSW |
12 |
112,573,991 (GRCm39) |
missense |
unknown |
|
|
R7752:Inf2
|
UTSW |
12 |
112,576,118 (GRCm39) |
missense |
unknown |
|
|
R7903:Inf2
|
UTSW |
12 |
112,578,988 (GRCm39) |
missense |
unknown |
|
|
R8024:Inf2
|
UTSW |
12 |
112,575,336 (GRCm39) |
missense |
unknown |
|
|
R8118:Inf2
|
UTSW |
12 |
112,567,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8139:Inf2
|
UTSW |
12 |
112,568,074 (GRCm39) |
nonsense |
probably null |
|
|
R8229:Inf2
|
UTSW |
12 |
112,578,030 (GRCm39) |
missense |
unknown |
|
|
R8299:Inf2
|
UTSW |
12 |
112,570,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Inf2
|
UTSW |
12 |
112,572,703 (GRCm39) |
missense |
unknown |
|
|
R8955:Inf2
|
UTSW |
12 |
112,576,998 (GRCm39) |
missense |
unknown |
|
|
R8973:Inf2
|
UTSW |
12 |
112,573,949 (GRCm39) |
missense |
unknown |
|
|
R9171:Inf2
|
UTSW |
12 |
112,567,965 (GRCm39) |
nonsense |
probably null |
|
|
R9218:Inf2
|
UTSW |
12 |
112,567,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9779:Inf2
|
UTSW |
12 |
112,574,786 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTCGATCAGGCTGATG -3'
(R):5'- TGAGGATGTATTCGATGCCC -3'
Sequencing Primer
(F):5'- GCTGATGGCCCTGTCCCTC -3'
(R):5'- CTGCTGTGAATTCATGACAGCACG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation