Incidental Mutation 'R7718:Atrnl1'
ID |
595080 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atrnl1
|
Ensembl Gene |
ENSMUSG00000054843 |
Gene Name |
attractin like 1 |
Synonyms |
Alp |
MMRRC Submission |
045775-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.182)
|
Stock # |
R7718 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 57728615 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 1090
(C1090*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
AlphaFold |
Q6A051 |
Predicted Effect |
probably null
Transcript: ENSMUST00000077282
AA Change: C1090*
|
SMART Domains |
Protein: ENSMUSP00000076514 Gene: ENSMUSG00000054843 AA Change: C1090*
Domain | Start | End | E-Value | Type |
low complexity region
|
25 |
32 |
N/A |
INTRINSIC |
EGF
|
61 |
90 |
5.71e-1 |
SMART |
CUB
|
92 |
208 |
1.43e-11 |
SMART |
EGF
|
209 |
244 |
1.95e1 |
SMART |
Pfam:EGF_2
|
248 |
279 |
5.8e-7 |
PFAM |
Pfam:Kelch_5
|
350 |
391 |
2.1e-9 |
PFAM |
Pfam:Kelch_6
|
354 |
401 |
5.8e-8 |
PFAM |
Pfam:Kelch_4
|
465 |
517 |
4.3e-7 |
PFAM |
Pfam:Kelch_1
|
519 |
573 |
2.7e-6 |
PFAM |
PSI
|
613 |
656 |
3.38e-1 |
SMART |
PSI
|
665 |
708 |
2e-3 |
SMART |
PSI
|
714 |
759 |
1.72e-2 |
SMART |
CLECT
|
747 |
872 |
2.86e-20 |
SMART |
PSI
|
888 |
938 |
6.26e-5 |
SMART |
PSI
|
941 |
1011 |
1.73e-7 |
SMART |
EGF_Lam
|
1013 |
1056 |
1.07e-5 |
SMART |
low complexity region
|
1157 |
1173 |
N/A |
INTRINSIC |
transmembrane domain
|
1229 |
1251 |
N/A |
INTRINSIC |
low complexity region
|
1261 |
1272 |
N/A |
INTRINSIC |
low complexity region
|
1326 |
1339 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (77/78) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit normal coat coloring and normal brain morphology. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
A |
T |
5: 138,646,122 (GRCm39) |
H669L |
possibly damaging |
Het |
Abcb1a |
A |
T |
5: 8,765,788 (GRCm39) |
N700I |
probably damaging |
Het |
Abcc6 |
T |
C |
7: 45,626,816 (GRCm39) |
K1414E |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,100,785 (GRCm39) |
V779A |
probably benign |
Het |
Agap2 |
A |
G |
10: 126,915,734 (GRCm39) |
S82G |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,575,305 (GRCm39) |
N864S |
probably damaging |
Het |
Ang2 |
A |
T |
14: 51,433,217 (GRCm39) |
V55E |
probably benign |
Het |
Ank2 |
A |
G |
3: 126,758,662 (GRCm39) |
M179T |
possibly damaging |
Het |
Atxn1l |
A |
G |
8: 110,459,866 (GRCm39) |
L132P |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,972,282 (GRCm39) |
V862A |
possibly damaging |
Het |
Capn11 |
C |
A |
17: 45,954,707 (GRCm39) |
K143N |
probably damaging |
Het |
Card6 |
A |
G |
15: 5,129,269 (GRCm39) |
V709A |
possibly damaging |
Het |
Cavin4 |
C |
T |
4: 48,671,984 (GRCm39) |
A143V |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,984,133 (GRCm39) |
I160T |
probably benign |
Het |
Cyp2c40 |
T |
A |
19: 39,755,782 (GRCm39) |
N511Y |
probably benign |
Het |
Dsc2 |
A |
T |
18: 20,174,835 (GRCm39) |
I480N |
probably damaging |
Het |
Elf2 |
G |
T |
3: 51,173,385 (GRCm39) |
|
probably benign |
Het |
Enoph1 |
T |
C |
5: 100,210,019 (GRCm39) |
V133A |
possibly damaging |
Het |
Ezh2 |
A |
T |
6: 47,531,125 (GRCm39) |
D186E |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,846,626 (GRCm39) |
F1106S |
probably damaging |
Het |
Gfra1 |
T |
C |
19: 58,441,889 (GRCm39) |
D14G |
possibly damaging |
Het |
Gmip |
C |
T |
8: 70,270,383 (GRCm39) |
R698W |
probably damaging |
Het |
Grk4 |
A |
G |
5: 34,852,160 (GRCm39) |
N135D |
probably benign |
Het |
Hspb6 |
A |
G |
7: 30,253,772 (GRCm39) |
D95G |
probably benign |
Het |
Htatip2 |
T |
G |
7: 49,420,632 (GRCm39) |
H159Q |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,896,774 (GRCm39) |
E1264G |
probably benign |
Het |
Insyn2b |
T |
C |
11: 34,352,539 (GRCm39) |
S194P |
probably benign |
Het |
Katnb1 |
T |
A |
8: 95,821,836 (GRCm39) |
V223E |
possibly damaging |
Het |
Klra6 |
AGG |
AG |
6: 129,990,315 (GRCm39) |
|
probably null |
Het |
Masp2 |
C |
T |
4: 148,687,204 (GRCm39) |
R29C |
probably damaging |
Het |
Mcm3 |
A |
T |
1: 20,887,498 (GRCm39) |
C123* |
probably null |
Het |
Mdn1 |
T |
C |
4: 32,718,420 (GRCm39) |
V2225A |
probably damaging |
Het |
Me1 |
A |
G |
9: 86,561,953 (GRCm39) |
L44S |
probably damaging |
Het |
Mlxip |
A |
G |
5: 123,583,577 (GRCm39) |
N380S |
probably benign |
Het |
Muc21 |
T |
C |
17: 35,933,728 (GRCm39) |
T153A |
unknown |
Het |
Myh14 |
C |
T |
7: 44,310,464 (GRCm39) |
V140I |
probably damaging |
Het |
Myocd |
A |
T |
11: 65,109,452 (GRCm39) |
D106E |
probably damaging |
Het |
Oat |
T |
C |
7: 132,159,988 (GRCm39) |
I411V |
probably benign |
Het |
Or2d2 |
A |
T |
7: 106,727,925 (GRCm39) |
V225D |
probably damaging |
Het |
Or5p59 |
T |
C |
7: 107,702,855 (GRCm39) |
V113A |
probably benign |
Het |
Or8k38 |
A |
G |
2: 86,488,373 (GRCm39) |
V143A |
probably benign |
Het |
Orc2 |
A |
T |
1: 58,519,476 (GRCm39) |
H246Q |
possibly damaging |
Het |
Pank4 |
A |
G |
4: 155,059,100 (GRCm39) |
E411G |
probably damaging |
Het |
Patl2 |
A |
T |
2: 121,957,255 (GRCm39) |
|
probably null |
Het |
Pcdhb15 |
A |
G |
18: 37,608,216 (GRCm39) |
N483D |
probably damaging |
Het |
Pcdhb20 |
A |
G |
18: 37,638,704 (GRCm39) |
D410G |
probably damaging |
Het |
Pdcl2 |
A |
G |
5: 76,465,846 (GRCm39) |
C125R |
probably damaging |
Het |
Peli3 |
C |
G |
19: 4,984,584 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,805,474 (GRCm39) |
D3313G |
probably benign |
Het |
Plec |
A |
C |
15: 76,061,639 (GRCm39) |
M2766R |
probably damaging |
Het |
Ppargc1a |
C |
T |
5: 51,655,504 (GRCm39) |
V99M |
probably damaging |
Het |
Prr35 |
T |
A |
17: 26,165,998 (GRCm39) |
R430* |
probably null |
Het |
Psg19 |
G |
A |
7: 18,526,368 (GRCm39) |
A374V |
probably benign |
Het |
Psmd7 |
A |
T |
8: 108,313,261 (GRCm39) |
F54L |
possibly damaging |
Het |
Ptbp2 |
C |
T |
3: 119,514,637 (GRCm39) |
G397R |
probably null |
Het |
Ranbp3 |
A |
G |
17: 57,003,718 (GRCm39) |
D39G |
probably damaging |
Het |
Rcor3 |
T |
C |
1: 191,786,021 (GRCm39) |
T406A |
probably benign |
Het |
Rhbdl2 |
T |
A |
4: 123,718,712 (GRCm39) |
I222K |
probably damaging |
Het |
Ripk2 |
T |
C |
4: 16,151,968 (GRCm39) |
N197S |
possibly damaging |
Het |
Rpia |
A |
T |
6: 70,743,602 (GRCm39) |
M283K |
probably damaging |
Het |
Rps6kc1 |
T |
C |
1: 190,604,022 (GRCm39) |
D200G |
probably benign |
Het |
Sipa1l1 |
A |
T |
12: 82,389,271 (GRCm39) |
K499M |
probably damaging |
Het |
Slc5a4b |
A |
G |
10: 75,906,407 (GRCm39) |
L404P |
probably damaging |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
Spmip4 |
G |
A |
6: 50,566,078 (GRCm39) |
|
probably null |
Het |
St7 |
A |
C |
6: 17,854,998 (GRCm39) |
T312P |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,515,294 (GRCm39) |
E244G |
probably damaging |
Het |
Tbc1d8 |
T |
G |
1: 39,416,061 (GRCm39) |
T871P |
probably benign |
Het |
Tcp1 |
T |
A |
17: 13,141,049 (GRCm39) |
I286N |
probably damaging |
Het |
Tead3 |
C |
A |
17: 28,552,491 (GRCm39) |
V327F |
probably damaging |
Het |
Tmem132c |
A |
T |
5: 127,640,504 (GRCm39) |
T892S |
probably benign |
Het |
Trmt2a |
T |
C |
16: 18,068,487 (GRCm39) |
S65P |
probably benign |
Het |
Ubp1 |
A |
G |
9: 113,802,597 (GRCm39) |
N479S |
possibly damaging |
Het |
Ubtfl1 |
A |
T |
9: 18,320,527 (GRCm39) |
L18F |
possibly damaging |
Het |
Uevld |
T |
G |
7: 46,587,804 (GRCm39) |
M299L |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,173,854 (GRCm39) |
Y1561N |
unknown |
Het |
Ylpm1 |
A |
G |
12: 85,075,896 (GRCm39) |
K874E |
probably damaging |
Het |
Zbtb37 |
G |
A |
1: 160,859,802 (GRCm39) |
R168W |
possibly damaging |
Het |
|
Other mutations in Atrnl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00323:Atrnl1
|
APN |
19 |
57,680,249 (GRCm39) |
missense |
probably benign |
0.02 |
IGL00707:Atrnl1
|
APN |
19 |
57,661,697 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL00921:Atrnl1
|
APN |
19 |
57,690,585 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01410:Atrnl1
|
APN |
19 |
58,119,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Atrnl1
|
APN |
19 |
57,688,144 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01756:Atrnl1
|
APN |
19 |
57,641,380 (GRCm39) |
missense |
probably benign |
|
IGL01971:Atrnl1
|
APN |
19 |
57,741,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02019:Atrnl1
|
APN |
19 |
57,680,195 (GRCm39) |
splice site |
probably benign |
|
IGL02580:Atrnl1
|
APN |
19 |
57,703,008 (GRCm39) |
splice site |
probably benign |
|
IGL02649:Atrnl1
|
APN |
19 |
57,638,873 (GRCm39) |
splice site |
probably benign |
|
IGL02676:Atrnl1
|
APN |
19 |
57,680,316 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03276:Atrnl1
|
APN |
19 |
57,641,359 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03379:Atrnl1
|
APN |
19 |
57,630,973 (GRCm39) |
missense |
probably benign |
0.02 |
Magnetogorsk
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
polar
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4812001:Atrnl1
|
UTSW |
19 |
57,720,055 (GRCm39) |
missense |
probably benign |
0.08 |
R0109:Atrnl1
|
UTSW |
19 |
57,743,949 (GRCm39) |
missense |
possibly damaging |
0.78 |
R0308:Atrnl1
|
UTSW |
19 |
57,741,720 (GRCm39) |
missense |
probably benign |
0.04 |
R0394:Atrnl1
|
UTSW |
19 |
57,661,608 (GRCm39) |
missense |
probably benign |
0.10 |
R0734:Atrnl1
|
UTSW |
19 |
57,643,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0811:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
R0812:Atrnl1
|
UTSW |
19 |
57,661,573 (GRCm39) |
missense |
probably benign |
0.07 |
R1183:Atrnl1
|
UTSW |
19 |
57,638,725 (GRCm39) |
missense |
probably damaging |
0.97 |
R1213:Atrnl1
|
UTSW |
19 |
57,626,894 (GRCm39) |
missense |
probably benign |
0.25 |
R1344:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
R1418:Atrnl1
|
UTSW |
19 |
57,924,137 (GRCm39) |
critical splice donor site |
probably null |
|
R1707:Atrnl1
|
UTSW |
19 |
57,675,169 (GRCm39) |
missense |
probably benign |
0.00 |
R1748:Atrnl1
|
UTSW |
19 |
57,703,134 (GRCm39) |
missense |
probably damaging |
0.99 |
R2051:Atrnl1
|
UTSW |
19 |
57,680,281 (GRCm39) |
missense |
probably benign |
0.01 |
R2113:Atrnl1
|
UTSW |
19 |
57,744,048 (GRCm39) |
nonsense |
probably null |
|
R2130:Atrnl1
|
UTSW |
19 |
57,643,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R3710:Atrnl1
|
UTSW |
19 |
57,645,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R3916:Atrnl1
|
UTSW |
19 |
57,924,084 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4524:Atrnl1
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
R4712:Atrnl1
|
UTSW |
19 |
57,641,382 (GRCm39) |
missense |
probably benign |
0.00 |
R4784:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
R4785:Atrnl1
|
UTSW |
19 |
57,617,590 (GRCm39) |
missense |
probably damaging |
0.97 |
R4798:Atrnl1
|
UTSW |
19 |
58,030,793 (GRCm39) |
missense |
probably benign |
|
R5172:Atrnl1
|
UTSW |
19 |
57,673,945 (GRCm39) |
nonsense |
probably null |
|
R5226:Atrnl1
|
UTSW |
19 |
57,638,767 (GRCm39) |
missense |
probably benign |
|
R5289:Atrnl1
|
UTSW |
19 |
57,645,514 (GRCm39) |
missense |
probably damaging |
1.00 |
R5372:Atrnl1
|
UTSW |
19 |
57,743,968 (GRCm39) |
missense |
probably benign |
|
R5737:Atrnl1
|
UTSW |
19 |
57,766,320 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5782:Atrnl1
|
UTSW |
19 |
57,741,718 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5826:Atrnl1
|
UTSW |
19 |
57,618,724 (GRCm39) |
nonsense |
probably null |
|
R6169:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
R6242:Atrnl1
|
UTSW |
19 |
57,630,910 (GRCm39) |
missense |
probably benign |
0.02 |
R6342:Atrnl1
|
UTSW |
19 |
57,626,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R6372:Atrnl1
|
UTSW |
19 |
57,638,764 (GRCm39) |
missense |
probably benign |
0.01 |
R6811:Atrnl1
|
UTSW |
19 |
57,643,393 (GRCm39) |
missense |
probably damaging |
0.98 |
R6897:Atrnl1
|
UTSW |
19 |
58,030,800 (GRCm39) |
missense |
probably benign |
0.01 |
R7024:Atrnl1
|
UTSW |
19 |
57,626,882 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7085:Atrnl1
|
UTSW |
19 |
57,680,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R7144:Atrnl1
|
UTSW |
19 |
58,030,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R7259:Atrnl1
|
UTSW |
19 |
57,924,038 (GRCm39) |
nonsense |
probably null |
|
R7289:Atrnl1
|
UTSW |
19 |
57,638,846 (GRCm39) |
missense |
probably benign |
0.13 |
R7310:Atrnl1
|
UTSW |
19 |
57,630,856 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7372:Atrnl1
|
UTSW |
19 |
57,924,078 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7432:Atrnl1
|
UTSW |
19 |
57,743,956 (GRCm39) |
missense |
probably damaging |
1.00 |
R7478:Atrnl1
|
UTSW |
19 |
57,684,744 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7556:Atrnl1
|
UTSW |
19 |
57,643,278 (GRCm39) |
missense |
probably benign |
|
R7567:Atrnl1
|
UTSW |
19 |
57,687,955 (GRCm39) |
missense |
probably damaging |
0.98 |
R7608:Atrnl1
|
UTSW |
19 |
57,703,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R7632:Atrnl1
|
UTSW |
19 |
57,618,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R7655:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
R7656:Atrnl1
|
UTSW |
19 |
57,599,811 (GRCm39) |
nonsense |
probably null |
|
R7721:Atrnl1
|
UTSW |
19 |
57,684,763 (GRCm39) |
missense |
probably benign |
0.00 |
R7726:Atrnl1
|
UTSW |
19 |
57,690,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R7733:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
probably benign |
0.00 |
R7774:Atrnl1
|
UTSW |
19 |
57,688,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Atrnl1
|
UTSW |
19 |
57,670,878 (GRCm39) |
missense |
probably benign |
0.14 |
R8119:Atrnl1
|
UTSW |
19 |
57,630,895 (GRCm39) |
missense |
probably benign |
0.00 |
R9242:Atrnl1
|
UTSW |
19 |
57,645,660 (GRCm39) |
missense |
probably benign |
0.07 |
R9265:Atrnl1
|
UTSW |
19 |
57,766,359 (GRCm39) |
missense |
probably benign |
0.11 |
R9272:Atrnl1
|
UTSW |
19 |
57,643,420 (GRCm39) |
missense |
probably benign |
0.00 |
R9480:Atrnl1
|
UTSW |
19 |
57,690,420 (GRCm39) |
missense |
possibly damaging |
0.61 |
R9526:Atrnl1
|
UTSW |
19 |
57,617,551 (GRCm39) |
missense |
probably damaging |
0.99 |
R9672:Atrnl1
|
UTSW |
19 |
57,618,695 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9673:Atrnl1
|
UTSW |
19 |
57,599,786 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
RF021:Atrnl1
|
UTSW |
19 |
57,630,905 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCCTGGATACGGCCTTTTCAC -3'
(R):5'- CTTAGCAACAGATGTGGAAGTG -3'
Sequencing Primer
(F):5'- GGGTTTCTGCAGTCAGTTA -3'
(R):5'- GGCTGGCCTTGAACTCAGAAATC -3'
|
Posted On |
2019-11-12 |