Incidental Mutation 'IGL03337:Firrm'
ID |
417073 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Firrm
|
Ensembl Gene |
ENSMUSG00000041406 |
Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
Synonyms |
BC055324 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03337
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 163818328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 38
(S38P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045694]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000111490]
[ENSMUST00000160926]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045694
|
SMART Domains |
Protein: ENSMUSP00000048636 Gene: ENSMUSG00000041396
Domain | Start | End | E-Value | Type |
Pfam:Methyltransf_16
|
150 |
233 |
7.3e-7 |
PFAM |
Pfam:PrmA
|
166 |
240 |
2.1e-7 |
PFAM |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045876
AA Change: S38P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000043143 Gene: ENSMUSG00000041406 AA Change: S38P
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DUF4487
|
233 |
779 |
2.3e-209 |
PFAM |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097493
AA Change: S38P
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000095101 Gene: ENSMUSG00000041406 AA Change: S38P
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
Pfam:DUF4487
|
233 |
779 |
1.3e-186 |
PFAM |
low complexity region
|
877 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111490
|
SMART Domains |
Protein: ENSMUSP00000107116 Gene: ENSMUSG00000041396
Domain | Start | End | E-Value | Type |
Pfam:MTS
|
147 |
232 |
4.5e-6 |
PFAM |
Pfam:Methyltransf_16
|
149 |
233 |
3.6e-7 |
PFAM |
Pfam:PrmA
|
166 |
238 |
2.7e-7 |
PFAM |
low complexity region
|
300 |
313 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000160926
AA Change: S38P
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000124826 Gene: ENSMUSG00000041406 AA Change: S38P
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
23 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162949
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 119,995,930 (GRCm39) |
I1356V |
probably benign |
Het |
Akr1b8 |
T |
C |
6: 34,331,209 (GRCm39) |
I15T |
probably benign |
Het |
Arrdc3 |
G |
A |
13: 81,038,766 (GRCm39) |
V23I |
probably benign |
Het |
Bmp6 |
G |
A |
13: 38,682,919 (GRCm39) |
V470I |
probably damaging |
Het |
Cltc |
A |
T |
11: 86,594,509 (GRCm39) |
I1476N |
possibly damaging |
Het |
Dclk2 |
A |
C |
3: 86,813,366 (GRCm39) |
I193M |
probably damaging |
Het |
Dnah5 |
A |
G |
15: 28,290,287 (GRCm39) |
M1226V |
probably benign |
Het |
Gm6455 |
A |
G |
5: 10,917,251 (GRCm39) |
|
noncoding transcript |
Het |
Igkv4-62 |
A |
T |
6: 69,376,946 (GRCm39) |
W68R |
probably damaging |
Het |
Lbr |
C |
T |
1: 181,659,788 (GRCm39) |
G136R |
possibly damaging |
Het |
Ldhb |
C |
T |
6: 142,439,882 (GRCm39) |
M219I |
probably benign |
Het |
Lysmd2 |
A |
G |
9: 75,542,945 (GRCm39) |
D184G |
probably damaging |
Het |
Nrxn3 |
T |
A |
12: 89,221,790 (GRCm39) |
M150K |
probably damaging |
Het |
Pdss2 |
T |
C |
10: 43,221,589 (GRCm39) |
V167A |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,506,304 (GRCm39) |
D1528E |
probably benign |
Het |
Thsd7a |
C |
T |
6: 12,405,173 (GRCm39) |
C757Y |
probably damaging |
Het |
Tmem213 |
T |
C |
6: 38,086,478 (GRCm39) |
|
probably null |
Het |
Trip11 |
A |
G |
12: 101,851,278 (GRCm39) |
S929P |
probably damaging |
Het |
Utp20 |
T |
A |
10: 88,590,428 (GRCm39) |
M2349L |
probably benign |
Het |
Vmn2r58 |
T |
A |
7: 41,513,810 (GRCm39) |
I278F |
possibly damaging |
Het |
Vmn2r61 |
A |
G |
7: 41,916,509 (GRCm39) |
N374S |
possibly damaging |
Het |
Vps8 |
A |
G |
16: 21,381,918 (GRCm39) |
T1089A |
probably benign |
Het |
|
Other mutations in Firrm |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02051:Firrm
|
APN |
1 |
163,785,091 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02638:Firrm
|
APN |
1 |
163,786,868 (GRCm39) |
nonsense |
probably null |
|
IGL03048:Firrm
|
UTSW |
1 |
163,792,094 (GRCm39) |
missense |
probably benign |
0.04 |
R0106:Firrm
|
UTSW |
1 |
163,810,380 (GRCm39) |
unclassified |
probably benign |
|
R0106:Firrm
|
UTSW |
1 |
163,810,380 (GRCm39) |
unclassified |
probably benign |
|
R0414:Firrm
|
UTSW |
1 |
163,795,890 (GRCm39) |
missense |
probably benign |
0.02 |
R0511:Firrm
|
UTSW |
1 |
163,799,412 (GRCm39) |
splice site |
probably null |
|
R1323:Firrm
|
UTSW |
1 |
163,783,030 (GRCm39) |
unclassified |
probably benign |
|
R1870:Firrm
|
UTSW |
1 |
163,792,363 (GRCm39) |
missense |
probably damaging |
1.00 |
R2129:Firrm
|
UTSW |
1 |
163,794,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Firrm
|
UTSW |
1 |
163,784,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R3783:Firrm
|
UTSW |
1 |
163,815,252 (GRCm39) |
missense |
probably benign |
0.27 |
R3872:Firrm
|
UTSW |
1 |
163,814,533 (GRCm39) |
missense |
probably damaging |
0.99 |
R4427:Firrm
|
UTSW |
1 |
163,781,853 (GRCm39) |
missense |
probably benign |
|
R5069:Firrm
|
UTSW |
1 |
163,815,243 (GRCm39) |
missense |
possibly damaging |
0.59 |
R5620:Firrm
|
UTSW |
1 |
163,789,613 (GRCm39) |
nonsense |
probably null |
|
R5681:Firrm
|
UTSW |
1 |
163,789,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R5699:Firrm
|
UTSW |
1 |
163,785,120 (GRCm39) |
missense |
probably benign |
0.26 |
R5936:Firrm
|
UTSW |
1 |
163,814,581 (GRCm39) |
missense |
probably benign |
0.00 |
R6065:Firrm
|
UTSW |
1 |
163,815,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6065:Firrm
|
UTSW |
1 |
163,786,957 (GRCm39) |
missense |
probably benign |
0.08 |
R6075:Firrm
|
UTSW |
1 |
163,805,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R6466:Firrm
|
UTSW |
1 |
163,781,734 (GRCm39) |
missense |
probably benign |
0.01 |
R6701:Firrm
|
UTSW |
1 |
163,799,412 (GRCm39) |
splice site |
probably null |
|
R6776:Firrm
|
UTSW |
1 |
163,804,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R6851:Firrm
|
UTSW |
1 |
163,792,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R6923:Firrm
|
UTSW |
1 |
163,814,454 (GRCm39) |
critical splice donor site |
probably null |
|
R7125:Firrm
|
UTSW |
1 |
163,789,631 (GRCm39) |
missense |
probably benign |
0.00 |
R7361:Firrm
|
UTSW |
1 |
163,813,602 (GRCm39) |
missense |
possibly damaging |
0.54 |
R7492:Firrm
|
UTSW |
1 |
163,786,897 (GRCm39) |
missense |
probably benign |
0.35 |
R8528:Firrm
|
UTSW |
1 |
163,813,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R8755:Firrm
|
UTSW |
1 |
163,786,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Firrm
|
UTSW |
1 |
163,792,040 (GRCm39) |
missense |
probably damaging |
1.00 |
R8938:Firrm
|
UTSW |
1 |
163,789,541 (GRCm39) |
missense |
probably benign |
0.01 |
R8957:Firrm
|
UTSW |
1 |
163,792,335 (GRCm39) |
missense |
probably damaging |
1.00 |
R9023:Firrm
|
UTSW |
1 |
163,818,300 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9132:Firrm
|
UTSW |
1 |
163,814,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9159:Firrm
|
UTSW |
1 |
163,814,514 (GRCm39) |
missense |
probably damaging |
0.99 |
R9229:Firrm
|
UTSW |
1 |
163,794,659 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Firrm
|
UTSW |
1 |
163,792,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R9455:Firrm
|
UTSW |
1 |
163,781,721 (GRCm39) |
missense |
probably benign |
0.05 |
R9463:Firrm
|
UTSW |
1 |
163,795,907 (GRCm39) |
missense |
probably benign |
0.00 |
R9597:Firrm
|
UTSW |
1 |
163,804,340 (GRCm39) |
missense |
probably null |
1.00 |
R9646:Firrm
|
UTSW |
1 |
163,822,195 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1177:Firrm
|
UTSW |
1 |
163,792,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |