Incidental Mutation 'R0734:Atrnl1'
| ID |
68193 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atrnl1
|
| Ensembl Gene |
ENSMUSG00000054843 |
| Gene Name |
attractin like 1 |
| Synonyms |
Alp |
| MMRRC Submission |
038915-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.182)
|
| Stock # |
R0734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
57599466-58121775 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 57643293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 394
(W394R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076514
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077282]
|
| AlphaFold |
Q6A051 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077282
AA Change: W394R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076514
Gene: ENSMUSG00000054843
AA Change: W394R
| 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 |
|
| Meta Mutation Damage Score |
0.8930 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
99% (80/81) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
A |
16: 4,668,198 (GRCm39) |
S530T |
probably benign |
Het |
| Acer2 |
G |
T |
4: 86,835,796 (GRCm39) |
K223N |
probably benign |
Het |
| Adam19 |
T |
G |
11: 46,018,230 (GRCm39) |
C431G |
probably damaging |
Het |
| Adamts16 |
T |
G |
13: 70,886,600 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,344,500 (GRCm39) |
E531V |
probably benign |
Het |
| Apaf1 |
A |
T |
10: 90,872,883 (GRCm39) |
N720K |
probably benign |
Het |
| Bcl6 |
T |
C |
16: 23,786,889 (GRCm39) |
E634G |
probably damaging |
Het |
| Cfap65 |
T |
A |
1: 74,958,046 (GRCm39) |
Y954F |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,325,971 (GRCm39) |
V168A |
probably damaging |
Het |
| Cped1 |
C |
T |
6: 22,085,040 (GRCm39) |
P210S |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,264,822 (GRCm39) |
V199M |
probably benign |
Het |
| Cyp2j6 |
A |
T |
4: 96,412,081 (GRCm39) |
|
probably benign |
Het |
| Dhrs3 |
C |
G |
4: 144,653,746 (GRCm39) |
S289W |
probably damaging |
Het |
| Dido1 |
T |
G |
2: 180,301,835 (GRCm39) |
Q2023P |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,933,531 (GRCm39) |
G550R |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,521,970 (GRCm39) |
H1928N |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,996,753 (GRCm39) |
|
probably benign |
Het |
| Erg |
C |
A |
16: 95,170,884 (GRCm39) |
G269C |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,536,809 (GRCm39) |
|
probably benign |
Het |
| F5 |
G |
C |
1: 164,026,486 (GRCm39) |
R1686P |
probably damaging |
Het |
| Fancc |
T |
C |
13: 63,479,656 (GRCm39) |
R300G |
probably damaging |
Het |
| Fcer1g |
T |
A |
1: 171,058,748 (GRCm39) |
K47* |
probably null |
Het |
| Flt4 |
A |
G |
11: 49,517,544 (GRCm39) |
T289A |
possibly damaging |
Het |
| Gcnt2 |
T |
A |
13: 41,013,997 (GRCm39) |
F56Y |
probably benign |
Het |
| Gpatch8 |
G |
T |
11: 102,372,226 (GRCm39) |
S437R |
unknown |
Het |
| Grin2a |
T |
A |
16: 9,397,475 (GRCm39) |
I871F |
possibly damaging |
Het |
| Hsd17b4 |
T |
C |
18: 50,303,844 (GRCm39) |
V439A |
possibly damaging |
Het |
| Hykk |
A |
T |
9: 54,853,716 (GRCm39) |
K346M |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,901 (GRCm39) |
L352S |
probably damaging |
Het |
| Ikzf1 |
T |
C |
11: 11,708,195 (GRCm39) |
V110A |
probably damaging |
Het |
| Irak3 |
A |
T |
10: 119,981,542 (GRCm39) |
|
probably benign |
Het |
| Lamp5 |
T |
A |
2: 135,900,950 (GRCm39) |
V50E |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrch3 |
C |
T |
16: 32,817,853 (GRCm39) |
R570* |
probably null |
Het |
| Map1lc3a |
T |
C |
2: 155,118,896 (GRCm39) |
V20A |
possibly damaging |
Het |
| Map3k14 |
C |
A |
11: 103,117,826 (GRCm39) |
K655N |
probably benign |
Het |
| Mark2 |
A |
G |
19: 7,263,346 (GRCm39) |
|
probably benign |
Het |
| Mbtd1 |
G |
A |
11: 93,813,972 (GRCm39) |
G205D |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,192,063 (GRCm39) |
T861A |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,700,776 (GRCm39) |
Y99N |
probably damaging |
Het |
| Mex3d |
G |
A |
10: 80,217,366 (GRCm39) |
T617I |
possibly damaging |
Het |
| Muc13 |
G |
A |
16: 33,623,452 (GRCm39) |
V249I |
probably damaging |
Het |
| Myo18a |
C |
A |
11: 77,738,230 (GRCm39) |
P1688Q |
probably damaging |
Het |
| Naaladl1 |
A |
T |
19: 6,162,904 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
T |
A |
2: 165,911,111 (GRCm39) |
|
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,770,409 (GRCm39) |
T67A |
probably benign |
Het |
| Nin |
A |
G |
12: 70,076,887 (GRCm39) |
V1056A |
probably benign |
Het |
| Or1p1 |
A |
T |
11: 74,179,772 (GRCm39) |
Q100L |
probably damaging |
Het |
| Or4d10c |
T |
A |
19: 12,065,483 (GRCm39) |
R224S |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| P3h1 |
T |
C |
4: 119,095,885 (GRCm39) |
L331P |
probably damaging |
Het |
| Pabpc4l |
T |
C |
3: 46,401,408 (GRCm39) |
K79E |
possibly damaging |
Het |
| Pam |
T |
A |
1: 97,792,087 (GRCm39) |
R445* |
probably null |
Het |
| Pcdhb6 |
T |
C |
18: 37,468,387 (GRCm39) |
I436T |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,174,794 (GRCm39) |
Y1987H |
probably damaging |
Het |
| Plch2 |
G |
A |
4: 155,080,740 (GRCm39) |
T477I |
probably damaging |
Het |
| Postn |
G |
A |
3: 54,270,136 (GRCm39) |
G72R |
probably damaging |
Het |
| Proca1 |
G |
A |
11: 78,092,628 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
A |
4: 83,381,825 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
G |
A |
4: 76,058,834 (GRCm39) |
P153L |
probably damaging |
Het |
| Rgl1 |
T |
C |
1: 152,430,051 (GRCm39) |
D242G |
probably damaging |
Het |
| Ric1 |
T |
A |
19: 29,572,218 (GRCm39) |
I671K |
possibly damaging |
Het |
| Rxrg |
T |
A |
1: 167,455,013 (GRCm39) |
C199S |
probably damaging |
Het |
| Sec24c |
A |
C |
14: 20,743,813 (GRCm39) |
D1006A |
probably damaging |
Het |
| Sec63 |
A |
G |
10: 42,672,204 (GRCm39) |
T173A |
probably benign |
Het |
| Sfxn5 |
T |
C |
6: 85,244,847 (GRCm39) |
|
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,948 (GRCm39) |
I300V |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,712,097 (GRCm39) |
L189P |
probably damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,798,151 (GRCm39) |
R1959* |
probably null |
Het |
| Timeless |
C |
T |
10: 128,085,929 (GRCm39) |
R935W |
probably damaging |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,896,400 (GRCm39) |
Y286H |
possibly damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,601,019 (GRCm39) |
|
probably benign |
Het |
| Zbtb21 |
C |
T |
16: 97,753,827 (GRCm39) |
C180Y |
probably damaging |
Het |
| Zfp746 |
T |
C |
6: 48,041,833 (GRCm39) |
T298A |
probably 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 |
|
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 |
|
|
R7718:Atrnl1
|
UTSW |
19 |
57,728,615 (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'- GCGGTGAGCAGTTTCCAAAATGTAG -3'
(R):5'- TCATAGGCAGAATCCAAGGCAACAG -3'
Sequencing Primer
(F):5'- AGCAGTTTCCAAAATGTAGTGTGTG -3'
(R):5'- CCTCATCTGGCTGAGAGATGATAC -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation