Incidental Mutation 'R6172:Frk'
| ID |
488257 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Frk
|
| Ensembl Gene |
ENSMUSG00000019779 |
| Gene Name |
fyn-related kinase |
| Synonyms |
BSK/IYK, GTK |
| MMRRC Submission |
044315-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.190)
|
| Stock # |
R6172 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
34359395-34487274 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34467961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 325
(L325P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019913]
[ENSMUST00000170771]
|
| AlphaFold |
Q922K9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019913
AA Change: L325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019913
Gene: ENSMUSG00000019779
AA Change: L325P
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
52 |
116 |
2.76e-19 |
SMART |
|
SH2
|
121 |
206 |
4.97e-37 |
SMART |
|
TyrKc
|
241 |
494 |
8.58e-137 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170771
AA Change: L325P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130289
Gene: ENSMUSG00000019779
AA Change: L325P
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
52 |
116 |
2.76e-19 |
SMART |
|
SH2
|
121 |
206 |
4.97e-37 |
SMART |
|
TyrKc
|
241 |
494 |
8.58e-137 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215594
|
| Meta Mutation Damage Score |
0.9321 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the TYR family of protein kinases. This tyrosine kinase is a nuclear protein and may function during G1 and S phase of the cell cycle and suppress growth. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation do not exhibit increased susceptibility to spontaneous tumors nor increased sensitivity to inoizing radiation. Epithelial tissues appear similar to controls, but circulating levels of T3 were significantly reduced. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
A |
T |
9: 9,148,246 (GRCm39) |
C108S |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
| Bpifb2 |
C |
A |
2: 153,732,332 (GRCm39) |
H310Q |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
| Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
| Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
| Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
| Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
| Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
| Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
| Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
| Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,554,753 (GRCm39) |
I78T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
| Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
| Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
| Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
| Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,486 (GRCm39) |
N51S |
probably damaging |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
| Stag3 |
A |
G |
5: 138,298,105 (GRCm39) |
D699G |
probably benign |
Het |
| Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
| Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
probably damaging |
Het |
|
| Other mutations in Frk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00337:Frk
|
APN |
10 |
34,360,239 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01402:Frk
|
APN |
10 |
34,423,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02197:Frk
|
APN |
10 |
34,360,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02289:Frk
|
APN |
10 |
34,360,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02618:Frk
|
APN |
10 |
34,459,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02885:Frk
|
APN |
10 |
34,360,067 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03256:Frk
|
APN |
10 |
34,483,838 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0299:Frk
|
UTSW |
10 |
34,360,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0697:Frk
|
UTSW |
10 |
34,483,833 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1033:Frk
|
UTSW |
10 |
34,484,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1583:Frk
|
UTSW |
10 |
34,467,806 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1793:Frk
|
UTSW |
10 |
34,483,878 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2248:Frk
|
UTSW |
10 |
34,484,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3084:Frk
|
UTSW |
10 |
34,483,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3086:Frk
|
UTSW |
10 |
34,483,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Frk
|
UTSW |
10 |
34,360,001 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3766:Frk
|
UTSW |
10 |
34,360,001 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R3906:Frk
|
UTSW |
10 |
34,460,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4163:Frk
|
UTSW |
10 |
34,467,868 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4486:Frk
|
UTSW |
10 |
34,484,377 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4591:Frk
|
UTSW |
10 |
34,481,829 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4821:Frk
|
UTSW |
10 |
34,360,233 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5070:Frk
|
UTSW |
10 |
34,360,280 (GRCm39) |
nonsense |
probably null |
|
|
R6572:Frk
|
UTSW |
10 |
34,459,963 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6619:Frk
|
UTSW |
10 |
34,481,835 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7307:Frk
|
UTSW |
10 |
34,467,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Frk
|
UTSW |
10 |
34,423,292 (GRCm39) |
nonsense |
probably null |
|
|
R7916:Frk
|
UTSW |
10 |
34,360,021 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R8341:Frk
|
UTSW |
10 |
34,462,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8675:Frk
|
UTSW |
10 |
34,484,493 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8801:Frk
|
UTSW |
10 |
34,423,402 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9608:Frk
|
UTSW |
10 |
34,481,873 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Frk
|
UTSW |
10 |
34,460,001 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCAGTGACATAAAGTGATTTCC -3'
(R):5'- GTGCTCCAATGCGTCTATTGTG -3'
Sequencing Primer
(F):5'- CAGTGACATAAAGTGATTTCCTCCTC -3'
(R):5'- CCAATGCGTCTATTGTGTACAATTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation