Incidental Mutation 'IGL02638:Firrm'
ID |
301601 |
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 # |
IGL02638
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 163786868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 734
(Q734*)
|
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 null
Transcript: ENSMUST00000045876
AA Change: Q734*
|
SMART Domains |
Protein: ENSMUSP00000043143 Gene: ENSMUSG00000041406 AA Change: Q734*
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 null
Transcript: ENSMUST00000097493
AA Change: Q734*
|
SMART Domains |
Protein: ENSMUSP00000095101 Gene: ENSMUSG00000041406 AA Change: Q734*
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 |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkbh3 |
T |
A |
2: 93,838,458 (GRCm39) |
T38S |
probably benign |
Het |
Btbd8 |
T |
C |
5: 107,656,422 (GRCm39) |
V895A |
possibly damaging |
Het |
Cdkn2c |
A |
G |
4: 109,522,209 (GRCm39) |
|
probably benign |
Het |
Clca4b |
A |
C |
3: 144,631,939 (GRCm39) |
C189G |
probably damaging |
Het |
Clec4f |
T |
A |
6: 83,629,682 (GRCm39) |
N292I |
possibly damaging |
Het |
Dkk3 |
A |
C |
7: 111,748,234 (GRCm39) |
S123R |
probably benign |
Het |
Dock1 |
C |
T |
7: 134,748,209 (GRCm39) |
A1557V |
probably benign |
Het |
E130308A19Rik |
C |
T |
4: 59,719,676 (GRCm39) |
Q403* |
probably null |
Het |
F5 |
G |
A |
1: 164,012,177 (GRCm39) |
|
probably null |
Het |
Fam98c |
T |
A |
7: 28,852,187 (GRCm39) |
D326V |
probably damaging |
Het |
Frem2 |
A |
C |
3: 53,458,767 (GRCm39) |
V2034G |
possibly damaging |
Het |
Galnt2 |
G |
A |
8: 124,958,318 (GRCm39) |
G18D |
probably damaging |
Het |
Grhl3 |
T |
C |
4: 135,284,176 (GRCm39) |
E222G |
probably benign |
Het |
Hif3a |
A |
C |
7: 16,778,293 (GRCm39) |
|
probably benign |
Het |
Ibtk |
C |
T |
9: 85,601,946 (GRCm39) |
G755D |
probably damaging |
Het |
Laptm4b |
A |
G |
15: 34,277,630 (GRCm39) |
N187S |
probably benign |
Het |
Lrba |
A |
G |
3: 86,232,380 (GRCm39) |
T776A |
probably damaging |
Het |
Matcap2 |
A |
T |
9: 22,341,775 (GRCm39) |
K149* |
probably null |
Het |
Mfhas1 |
T |
A |
8: 36,058,104 (GRCm39) |
W860R |
possibly damaging |
Het |
Mon2 |
A |
C |
10: 122,859,844 (GRCm39) |
W811G |
probably damaging |
Het |
Nup42 |
A |
G |
5: 24,380,505 (GRCm39) |
T167A |
probably benign |
Het |
Or10j2 |
A |
G |
1: 173,097,898 (GRCm39) |
D52G |
probably benign |
Het |
Or2z2 |
C |
A |
11: 58,345,873 (GRCm39) |
A301S |
probably damaging |
Het |
Or4k45 |
T |
C |
2: 111,395,249 (GRCm39) |
D180G |
probably damaging |
Het |
Or5w10 |
T |
C |
2: 87,375,093 (GRCm39) |
Y265C |
probably damaging |
Het |
Or8j3c |
T |
C |
2: 86,254,021 (GRCm39) |
|
probably null |
Het |
Pgap2 |
T |
C |
7: 101,886,629 (GRCm39) |
L217P |
probably damaging |
Het |
Pik3c2b |
T |
G |
1: 133,005,056 (GRCm39) |
|
probably benign |
Het |
Ppfia3 |
T |
A |
7: 45,006,092 (GRCm39) |
D149V |
probably damaging |
Het |
Prkcb |
C |
T |
7: 122,200,063 (GRCm39) |
|
probably benign |
Het |
Prl |
A |
G |
13: 27,245,562 (GRCm39) |
D97G |
probably benign |
Het |
Psma5-ps |
T |
C |
10: 85,149,698 (GRCm39) |
|
noncoding transcript |
Het |
Rnf112 |
T |
C |
11: 61,340,231 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
C |
A |
10: 89,412,465 (GRCm39) |
G323* |
probably null |
Het |
Snx19 |
T |
C |
9: 30,343,660 (GRCm39) |
F607L |
possibly damaging |
Het |
Suco |
A |
G |
1: 161,655,256 (GRCm39) |
S1079P |
probably damaging |
Het |
Taf5 |
T |
C |
19: 47,056,649 (GRCm39) |
L149P |
probably benign |
Het |
Taf6l |
T |
C |
19: 8,752,630 (GRCm39) |
M379V |
probably benign |
Het |
Tcf25 |
T |
C |
8: 124,126,031 (GRCm39) |
F558L |
probably damaging |
Het |
Tlcd1 |
T |
C |
11: 78,070,444 (GRCm39) |
V102A |
probably benign |
Het |
Tmc5 |
G |
T |
7: 118,226,456 (GRCm39) |
A274S |
probably benign |
Het |
Toporsl |
C |
T |
4: 52,611,624 (GRCm39) |
H506Y |
probably benign |
Het |
Ubtd1 |
T |
C |
19: 42,022,109 (GRCm39) |
L127P |
possibly damaging |
Het |
Usp24 |
A |
C |
4: 106,295,967 (GRCm39) |
|
probably benign |
Het |
Usp24 |
C |
A |
4: 106,295,969 (GRCm39) |
|
probably benign |
Het |
Usp43 |
T |
G |
11: 67,746,581 (GRCm39) |
D1042A |
probably benign |
Het |
Whrn |
T |
C |
4: 63,337,709 (GRCm39) |
T48A |
possibly damaging |
Het |
Wnt2b |
A |
G |
3: 104,862,032 (GRCm39) |
I102T |
probably benign |
Het |
Zfp763 |
T |
C |
17: 33,238,908 (GRCm39) |
D79G |
probably benign |
Het |
Zmat4 |
A |
G |
8: 24,287,389 (GRCm39) |
Y45C |
probably damaging |
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 |
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 |
2015-04-16 |