Incidental Mutation 'R1323:Firrm'
| ID |
172444 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Firrm
|
| Ensembl Gene |
ENSMUSG00000041406 |
| Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
| Synonyms |
BC055324 |
| MMRRC Submission |
039389-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1323 (G1)
|
| Quality Score |
181 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 163783030 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132109
(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
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
| 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
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
| 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 |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
A |
11: 9,240,937 (GRCm39) |
F933L |
possibly damaging |
Het |
| Abcc8 |
T |
G |
7: 45,766,786 (GRCm39) |
Q998P |
probably benign |
Het |
| Akr1e1 |
C |
T |
13: 4,657,547 (GRCm39) |
G17E |
probably damaging |
Het |
| Ankrd44 |
A |
G |
1: 54,805,609 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,125,443 (GRCm39) |
I1524V |
probably damaging |
Het |
| Elovl1 |
T |
C |
4: 118,288,851 (GRCm39) |
L103P |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,259,864 (GRCm39) |
|
probably benign |
Het |
| Fam171a2 |
T |
G |
11: 102,334,951 (GRCm39) |
D62A |
probably damaging |
Het |
| Frzb |
G |
A |
2: 80,243,720 (GRCm39) |
P320S |
probably benign |
Het |
| Fsip2 |
G |
T |
2: 82,816,096 (GRCm39) |
G3943V |
probably damaging |
Het |
| Ftdc1 |
G |
A |
16: 58,437,278 (GRCm39) |
P10L |
possibly damaging |
Het |
| Grm8 |
A |
G |
6: 28,125,973 (GRCm39) |
L51P |
probably damaging |
Het |
| H2af-ps2 |
T |
G |
13: 51,357,100 (GRCm39) |
|
noncoding transcript |
Het |
| Hnf4g |
T |
C |
3: 3,699,281 (GRCm39) |
S4P |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,059,527 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
A |
G |
9: 15,774,432 (GRCm39) |
F209S |
probably damaging |
Het |
| Nckipsd |
G |
A |
9: 108,689,778 (GRCm39) |
R313Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Paqr5 |
C |
T |
9: 61,868,810 (GRCm39) |
|
probably null |
Het |
| S100a14 |
T |
C |
3: 90,435,043 (GRCm39) |
V18A |
probably damaging |
Het |
| Sycp2 |
A |
T |
2: 177,989,414 (GRCm39) |
S1441R |
possibly damaging |
Het |
| Vmn2r101 |
G |
A |
17: 19,832,313 (GRCm39) |
D770N |
probably damaging |
Het |
| Zfp600 |
A |
G |
4: 146,133,261 (GRCm39) |
Y643C |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGCAGATTCCCTTGTTTGACCAG -3'
(R):5'- TTTGACAGCATCACACCCTGTACTG -3'
Sequencing Primer
(F):5'- TGACCAGTACATGCTTAAAAGCAG -3'
(R):5'- acagtagcagaattacagttatgaag -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation