Incidental Mutation 'R4427:Firrm'
| ID |
328216 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Firrm
|
| Ensembl Gene |
ENSMUSG00000041406 |
| Gene Name |
FIGNL1 interacting regulator of recombination and mitosis |
| Synonyms |
BC055324 |
| MMRRC Submission |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
163773562-163822365 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 163781853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 858
(V858A)
|
| 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: V858A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000043143
Gene: ENSMUSG00000041406
AA Change: V858A
| 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: V858A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095101
Gene: ENSMUSG00000041406
AA Change: V858A
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Cfap119 |
A |
G |
7: 127,187,288 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
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 |
|
|
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 |
|
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'- CCCAGTTCTGTCGATACACAGG -3'
(R):5'- ACTTCTTGTCTGCCACATACAAG -3'
Sequencing Primer
(F):5'- TGTCGATACACAGGCCATTC -3'
(R):5'- TGTCTGCCACATACAAGTTAGGACG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation