Incidental Mutation 'R6126:Alk'
| ID |
487423 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Alk
|
| Ensembl Gene |
ENSMUSG00000055471 |
| Gene Name |
anaplastic lymphoma kinase |
| Synonyms |
CD246, Tcrz |
| MMRRC Submission |
044273-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.138)
|
| Stock # |
R6126 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
72175967-72911622 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72182037 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 1329
(L1329F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086639]
|
| AlphaFold |
P97793 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086639
AA Change: L1329F
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000083840
Gene: ENSMUSG00000055471
AA Change: L1329F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
109 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
242 |
N/A |
INTRINSIC |
|
Pfam:MAM
|
270 |
431 |
5.6e-10 |
PFAM |
|
LDLa
|
441 |
477 |
5.59e-3 |
SMART |
|
Pfam:MAM
|
484 |
640 |
5.6e-22 |
PFAM |
|
Pfam:Gly_rich
|
730 |
996 |
8.6e-19 |
PFAM |
|
low complexity region
|
1037 |
1057 |
N/A |
INTRINSIC |
|
TyrKc
|
1120 |
1387 |
2.76e-140 |
SMART |
|
low complexity region
|
1440 |
1480 |
N/A |
INTRINSIC |
|
low complexity region
|
1551 |
1570 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2563 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
93% (51/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a null allele show increased ethanol consumption and increased sedation in response to ethanol. Male mice homozygous for a different null allele show delayed puberty, hypogonadotropic hypogonadism, reduced serum testosterone levels, and altered seminiferous tubule morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
G |
A |
3: 89,963,881 (GRCm39) |
R111H |
probably damaging |
Het |
| Apoh |
A |
T |
11: 108,288,199 (GRCm39) |
I106F |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,281,775 (GRCm39) |
M126I |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
| Chd7 |
T |
C |
4: 8,826,482 (GRCm39) |
S949P |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,345 (GRCm39) |
A203T |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,267,264 (GRCm39) |
I5080K |
probably damaging |
Het |
| Ecd |
T |
C |
14: 20,388,493 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,014,318 (GRCm39) |
K638* |
probably null |
Het |
| Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,141,443 (GRCm39) |
I272T |
probably damaging |
Het |
| Foxd2 |
C |
A |
4: 114,765,702 (GRCm39) |
G106V |
unknown |
Het |
| Ggcx |
A |
T |
6: 72,394,966 (GRCm39) |
M115L |
possibly damaging |
Het |
| Gm21976 |
G |
A |
13: 98,423,821 (GRCm39) |
R72H |
unknown |
Het |
| Hsf2 |
T |
C |
10: 57,372,013 (GRCm39) |
V38A |
probably damaging |
Het |
| Ifi208 |
A |
G |
1: 173,505,274 (GRCm39) |
Y8C |
possibly damaging |
Het |
| Il31ra |
A |
C |
13: 112,666,908 (GRCm39) |
L390R |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,947,621 (GRCm39) |
Y1614N |
probably damaging |
Het |
| Mef2b |
C |
A |
8: 70,619,526 (GRCm39) |
T267K |
probably benign |
Het |
| Mfsd8 |
A |
G |
3: 40,786,446 (GRCm39) |
|
probably null |
Het |
| Mnx1 |
G |
T |
5: 29,683,110 (GRCm39) |
A55E |
possibly damaging |
Het |
| Muc5ac |
A |
T |
7: 141,354,969 (GRCm39) |
I949F |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ntpcr |
G |
A |
8: 126,462,626 (GRCm39) |
|
probably null |
Het |
| Or12j3 |
T |
G |
7: 139,953,166 (GRCm39) |
Y119S |
probably damaging |
Het |
| Otx1 |
T |
C |
11: 21,946,457 (GRCm39) |
|
probably benign |
Het |
| Panx1 |
T |
A |
9: 14,919,086 (GRCm39) |
I258F |
probably benign |
Het |
| Pask |
T |
C |
1: 93,242,081 (GRCm39) |
Y1212C |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,331,190 (GRCm39) |
K265R |
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,508,673 (GRCm39) |
H844R |
probably benign |
Het |
| Ppp6r1 |
T |
C |
7: 4,646,376 (GRCm39) |
T136A |
possibly damaging |
Het |
| Rab35 |
A |
G |
5: 115,783,767 (GRCm39) |
N185D |
probably benign |
Het |
| Rdh1 |
A |
T |
10: 127,599,083 (GRCm39) |
D188V |
probably damaging |
Het |
| Rimbp3 |
A |
T |
16: 17,030,140 (GRCm39) |
D1188V |
probably benign |
Het |
| Robo2 |
C |
T |
16: 73,717,570 (GRCm39) |
G100S |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
A |
C |
7: 28,775,664 (GRCm39) |
D2282E |
probably null |
Het |
| Ryr3 |
A |
G |
2: 112,588,015 (GRCm39) |
L2642P |
probably damaging |
Het |
| Sez6 |
A |
T |
11: 77,864,630 (GRCm39) |
Y530F |
probably damaging |
Het |
| Slc12a2 |
A |
G |
18: 58,077,116 (GRCm39) |
Y1205C |
possibly damaging |
Het |
| Slc4a5 |
A |
T |
6: 83,203,247 (GRCm39) |
H49L |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,677,280 (GRCm39) |
V1503D |
probably damaging |
Het |
| Spata31e3 |
G |
T |
13: 50,400,326 (GRCm39) |
Q667K |
probably benign |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,063,591 (GRCm39) |
N1007S |
probably benign |
Het |
| Tpk1 |
A |
T |
6: 43,400,594 (GRCm39) |
C143S |
probably damaging |
Het |
| Wdr20 |
A |
T |
12: 110,760,536 (GRCm39) |
H474L |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,167,174 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,808,497 (GRCm39) |
T1516A |
probably benign |
Het |
| Zfp462 |
G |
A |
4: 55,023,573 (GRCm39) |
A2121T |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Alk |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Alk
|
APN |
17 |
72,202,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00796:Alk
|
APN |
17 |
72,212,137 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01096:Alk
|
APN |
17 |
72,228,891 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01367:Alk
|
APN |
17 |
72,207,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01402:Alk
|
APN |
17 |
72,181,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01652:Alk
|
APN |
17 |
72,910,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01717:Alk
|
APN |
17 |
72,910,377 (GRCm39) |
missense |
probably benign |
|
|
IGL02301:Alk
|
APN |
17 |
72,181,171 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02403:Alk
|
APN |
17 |
72,208,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Alk
|
APN |
17 |
72,209,620 (GRCm39) |
nonsense |
probably null |
|
|
IGL02724:Alk
|
APN |
17 |
72,292,455 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02826:Alk
|
APN |
17 |
72,176,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Alk
|
APN |
17 |
72,204,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02994:Alk
|
APN |
17 |
72,256,815 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03329:Alk
|
APN |
17 |
72,206,159 (GRCm39) |
splice site |
probably benign |
|
|
PIT4382001:Alk
|
UTSW |
17 |
72,256,916 (GRCm39) |
missense |
probably benign |
|
|
R0157:Alk
|
UTSW |
17 |
72,256,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0211:Alk
|
UTSW |
17 |
72,910,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0257:Alk
|
UTSW |
17 |
72,910,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Alk
|
UTSW |
17 |
72,910,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0395:Alk
|
UTSW |
17 |
72,910,526 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0414:Alk
|
UTSW |
17 |
72,206,281 (GRCm39) |
splice site |
probably benign |
|
|
R0466:Alk
|
UTSW |
17 |
72,212,152 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0526:Alk
|
UTSW |
17 |
72,176,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Alk
|
UTSW |
17 |
72,910,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Alk
|
UTSW |
17 |
72,291,740 (GRCm39) |
splice site |
probably benign |
|
|
R0830:Alk
|
UTSW |
17 |
72,910,195 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0835:Alk
|
UTSW |
17 |
72,176,837 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0894:Alk
|
UTSW |
17 |
72,202,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1110:Alk
|
UTSW |
17 |
72,291,740 (GRCm39) |
splice site |
probably benign |
|
|
R1170:Alk
|
UTSW |
17 |
72,207,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1573:Alk
|
UTSW |
17 |
72,910,113 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1667:Alk
|
UTSW |
17 |
72,218,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Alk
|
UTSW |
17 |
72,910,416 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1767:Alk
|
UTSW |
17 |
72,207,693 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1836:Alk
|
UTSW |
17 |
72,198,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Alk
|
UTSW |
17 |
72,181,933 (GRCm39) |
splice site |
probably benign |
|
|
R2905:Alk
|
UTSW |
17 |
72,292,489 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2925:Alk
|
UTSW |
17 |
72,910,202 (GRCm39) |
missense |
probably benign |
|
|
R3727:Alk
|
UTSW |
17 |
72,208,395 (GRCm39) |
splice site |
probably benign |
|
|
R3747:Alk
|
UTSW |
17 |
72,218,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3790:Alk
|
UTSW |
17 |
72,910,427 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3909:Alk
|
UTSW |
17 |
72,204,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3934:Alk
|
UTSW |
17 |
72,512,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3936:Alk
|
UTSW |
17 |
72,512,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3972:Alk
|
UTSW |
17 |
72,292,442 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4433:Alk
|
UTSW |
17 |
72,206,236 (GRCm39) |
nonsense |
probably null |
|
|
R4716:Alk
|
UTSW |
17 |
72,512,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Alk
|
UTSW |
17 |
72,176,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4921:Alk
|
UTSW |
17 |
72,211,310 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4954:Alk
|
UTSW |
17 |
72,209,687 (GRCm39) |
nonsense |
probably null |
|
|
R5377:Alk
|
UTSW |
17 |
72,202,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5386:Alk
|
UTSW |
17 |
72,182,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5551:Alk
|
UTSW |
17 |
72,182,028 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5704:Alk
|
UTSW |
17 |
72,910,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Alk
|
UTSW |
17 |
72,274,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5888:Alk
|
UTSW |
17 |
72,181,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6013:Alk
|
UTSW |
17 |
72,207,732 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6044:Alk
|
UTSW |
17 |
72,299,095 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6058:Alk
|
UTSW |
17 |
72,176,742 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6286:Alk
|
UTSW |
17 |
72,187,842 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6744:Alk
|
UTSW |
17 |
72,910,077 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6989:Alk
|
UTSW |
17 |
72,204,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7487:Alk
|
UTSW |
17 |
72,256,893 (GRCm39) |
missense |
probably benign |
|
|
R7573:Alk
|
UTSW |
17 |
72,207,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7838:Alk
|
UTSW |
17 |
72,274,549 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8055:Alk
|
UTSW |
17 |
72,206,252 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8211:Alk
|
UTSW |
17 |
72,176,702 (GRCm39) |
missense |
probably benign |
|
|
R8555:Alk
|
UTSW |
17 |
72,228,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8676:Alk
|
UTSW |
17 |
72,204,936 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8847:Alk
|
UTSW |
17 |
72,256,820 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8885:Alk
|
UTSW |
17 |
72,202,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Alk
|
UTSW |
17 |
72,181,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9239:Alk
|
UTSW |
17 |
72,256,864 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9268:Alk
|
UTSW |
17 |
72,181,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9682:Alk
|
UTSW |
17 |
72,182,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
RF013:Alk
|
UTSW |
17 |
72,202,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Alk
|
UTSW |
17 |
72,256,808 (GRCm39) |
missense |
probably benign |
0.09 |
|
Z1088:Alk
|
UTSW |
17 |
72,512,802 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Alk
|
UTSW |
17 |
72,910,058 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCTCGGGACATCTGAAAAGAAGG -3'
(R):5'- TGACCTCCATGTATATGTGTGC -3'
Sequencing Primer
(F):5'- TCTGAAAAGAAGGCTACCAACTTC -3'
(R):5'- GACCTCCATGTATATGTGTGCAAATG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation