Incidental Mutation 'IGL02051:Firrm'
| ID |
186114 |
| 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 # |
IGL02051
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 163785091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 763
(T763A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095101
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027876]
[ENSMUST00000045876]
[ENSMUST00000097493]
[ENSMUST00000159516]
[ENSMUST00000159617]
[ENSMUST00000161908]
[ENSMUST00000162234]
[ENSMUST00000170359]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027876
|
| SMART Domains |
Protein: ENSMUSP00000027876
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
32 |
245 |
1.9e-7 |
PFAM |
|
low complexity region
|
525 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
711 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045876
AA Change: T763A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: T763A
| 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 benign
Transcript: ENSMUST00000097493
AA Change: T763A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: T763A
| 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: ENSMUST00000159516
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161908
|
| SMART Domains |
Protein: ENSMUSP00000125735
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162920
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170359
|
| SMART Domains |
Protein: ENSMUSP00000132109
Gene: ENSMUSG00000026584
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
25 |
274 |
1.5e-8 |
PFAM |
|
low complexity region
|
512 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
718 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacul1 |
T |
C |
19: 60,531,504 (GRCm39) |
D255G |
probably damaging |
Het |
| Chi3l1 |
T |
C |
1: 134,111,887 (GRCm39) |
S94P |
probably damaging |
Het |
| Defa38 |
A |
G |
8: 21,585,275 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,792,617 (GRCm39) |
T223A |
probably benign |
Het |
| Gfra3 |
T |
C |
18: 34,828,894 (GRCm39) |
T167A |
possibly damaging |
Het |
| Glb1l3 |
T |
C |
9: 26,736,464 (GRCm39) |
I533V |
probably benign |
Het |
| Gm11437 |
T |
A |
11: 84,043,592 (GRCm39) |
Q233L |
probably benign |
Het |
| Hif1an |
A |
G |
19: 44,551,829 (GRCm39) |
Y93C |
probably damaging |
Het |
| Hspg2 |
A |
G |
4: 137,295,700 (GRCm39) |
|
probably benign |
Het |
| Ints15 |
A |
G |
5: 143,293,737 (GRCm39) |
C247R |
probably damaging |
Het |
| Mak |
G |
A |
13: 41,195,558 (GRCm39) |
A385V |
probably benign |
Het |
| Mical2 |
G |
T |
7: 111,980,597 (GRCm39) |
K190N |
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,128,916 (GRCm39) |
|
probably null |
Het |
| Ptpn5 |
A |
G |
7: 46,732,507 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
G |
7: 28,771,083 (GRCm39) |
Y2614H |
probably benign |
Het |
| Sema3e |
T |
A |
5: 14,274,324 (GRCm39) |
Y192N |
possibly damaging |
Het |
| Smpd4 |
T |
C |
16: 17,444,382 (GRCm39) |
L145P |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,608,381 (GRCm39) |
E101G |
probably damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,948 (GRCm39) |
V50E |
probably benign |
Het |
| Vpreb3 |
G |
A |
10: 75,784,244 (GRCm39) |
|
probably null |
Het |
| Vps72 |
T |
C |
3: 95,030,040 (GRCm39) |
L353P |
possibly damaging |
Het |
|
| Other mutations in Firrm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02638:Firrm
|
APN |
1 |
163,786,868 (GRCm39) |
nonsense |
probably null |
|
|
IGL03337:Firrm
|
APN |
1 |
163,818,328 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
2014-05-07 |
Incidental Mutation