Incidental Mutation 'R9360:Nhsl1'
| ID |
708636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9360 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 18194898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 56
(G56R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207038
AA Change: G56R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
G |
12: 81,468,261 (GRCm39) |
L120P |
probably damaging |
Het |
| Asb6 |
A |
G |
2: 30,714,334 (GRCm39) |
S259P |
probably damaging |
Het |
| Atp6v0a2 |
C |
A |
5: 124,767,259 (GRCm39) |
S7R |
possibly damaging |
Het |
| Btbd16 |
C |
T |
7: 130,417,516 (GRCm39) |
R344C |
probably damaging |
Het |
| Cacna1h |
G |
A |
17: 25,594,336 (GRCm39) |
A2274V |
probably benign |
Het |
| Caml |
A |
C |
13: 55,771,030 (GRCm39) |
N43H |
probably damaging |
Het |
| Ccar2 |
A |
G |
14: 70,379,445 (GRCm39) |
S518P |
probably damaging |
Het |
| Cdkl3 |
A |
G |
11: 51,924,349 (GRCm39) |
I546V |
probably null |
Het |
| Chac1 |
C |
T |
2: 119,182,854 (GRCm39) |
T84I |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,644,686 (GRCm39) |
T1201A |
probably benign |
Het |
| Csf1 |
T |
C |
3: 107,661,158 (GRCm39) |
T120A |
possibly damaging |
Het |
| Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
| Cyp4f17 |
C |
T |
17: 32,743,880 (GRCm39) |
R353C |
probably benign |
Het |
| Depdc1a |
A |
G |
3: 159,232,168 (GRCm39) |
M640V |
possibly damaging |
Het |
| Dgkq |
A |
G |
5: 108,798,469 (GRCm39) |
V633A |
probably damaging |
Het |
| Fdft1 |
A |
T |
14: 63,415,189 (GRCm39) |
Y14* |
probably null |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Ftdc1 |
T |
C |
16: 58,434,234 (GRCm39) |
D161G |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,289,752 (GRCm39) |
V179E |
probably damaging |
Het |
| Gpr12 |
A |
G |
5: 146,520,299 (GRCm39) |
F208L |
probably benign |
Het |
| Greb1 |
A |
G |
12: 16,790,037 (GRCm39) |
S4P |
probably damaging |
Het |
| Hlcs |
A |
T |
16: 93,932,672 (GRCm39) |
I717N |
probably damaging |
Het |
| Hormad1 |
G |
A |
3: 95,483,622 (GRCm39) |
A145T |
probably benign |
Het |
| Kcmf1 |
A |
T |
6: 72,838,826 (GRCm39) |
C33* |
probably null |
Het |
| Kif13a |
A |
T |
13: 46,962,472 (GRCm39) |
S561T |
probably benign |
Het |
| Klhl20 |
G |
T |
1: 160,921,269 (GRCm39) |
P571Q |
probably benign |
Het |
| Kpna6 |
A |
T |
4: 129,547,635 (GRCm39) |
M304K |
probably benign |
Het |
| Krt75 |
T |
C |
15: 101,476,729 (GRCm39) |
K387E |
probably damaging |
Het |
| Lum |
A |
T |
10: 97,404,752 (GRCm39) |
K216* |
probably null |
Het |
| Meioc |
A |
G |
11: 102,565,779 (GRCm39) |
N409S |
probably benign |
Het |
| Mrpl20 |
T |
C |
4: 155,888,402 (GRCm39) |
|
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,943 (GRCm39) |
I374N |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,943,319 (GRCm39) |
I652T |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,973,650 (GRCm39) |
I1894V |
probably benign |
Het |
| Olig2 |
A |
C |
16: 91,023,774 (GRCm39) |
T163P |
probably damaging |
Het |
| Or13c7c |
A |
G |
4: 43,835,765 (GRCm39) |
S242P |
probably benign |
Het |
| Or4g7 |
T |
C |
2: 111,309,684 (GRCm39) |
I185T |
probably benign |
Het |
| Or5p81 |
T |
A |
7: 108,266,977 (GRCm39) |
L118Q |
probably damaging |
Het |
| Or7e168 |
T |
A |
9: 19,720,529 (GRCm39) |
V305D |
possibly damaging |
Het |
| Parp4 |
G |
A |
14: 56,878,775 (GRCm39) |
|
probably null |
Het |
| Pcdhb2 |
T |
C |
18: 37,429,551 (GRCm39) |
I508T |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,859,787 (GRCm39) |
F281S |
probably damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,516 (GRCm39) |
M74K |
possibly damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prpf8 |
T |
C |
11: 75,381,156 (GRCm39) |
Y219H |
possibly damaging |
Het |
| Rhag |
T |
C |
17: 41,142,548 (GRCm39) |
V251A |
possibly damaging |
Het |
| Rrs1 |
A |
G |
1: 9,616,845 (GRCm39) |
*366W |
probably null |
Het |
| Sgpp2 |
A |
G |
1: 78,367,143 (GRCm39) |
D92G |
probably damaging |
Het |
| Slc44a3 |
C |
A |
3: 121,325,908 (GRCm39) |
|
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,968,956 (GRCm39) |
M257V |
probably benign |
Het |
| Taar7e |
T |
A |
10: 23,913,949 (GRCm39) |
Y146* |
probably null |
Het |
| Tet2 |
G |
T |
3: 133,192,903 (GRCm39) |
N510K |
possibly damaging |
Het |
| Tgfbr3 |
T |
C |
5: 107,257,550 (GRCm39) |
I836M |
unknown |
Het |
| Thada |
A |
G |
17: 84,499,410 (GRCm39) |
V1929A |
probably benign |
Het |
| Tram1l1 |
A |
T |
3: 124,115,899 (GRCm39) |
D353V |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,094,734 (GRCm39) |
|
probably null |
Het |
| Trim15 |
A |
T |
17: 37,177,942 (GRCm39) |
C18S |
probably damaging |
Het |
| Vmn1r62 |
T |
C |
7: 5,678,952 (GRCm39) |
I211T |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,783,165 (GRCm39) |
V501A |
probably benign |
Het |
| Zfp563 |
A |
G |
17: 33,324,428 (GRCm39) |
E341G |
probably benign |
Het |
|
| Other mutations in Nhsl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Nhsl1
|
APN |
10 |
18,403,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01121:Nhsl1
|
APN |
10 |
18,387,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01775:Nhsl1
|
APN |
10 |
18,400,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02143:Nhsl1
|
APN |
10 |
18,387,383 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL02606:Nhsl1
|
APN |
10 |
18,387,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Nhsl1
|
APN |
10 |
18,284,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL02866:Nhsl1
|
APN |
10 |
18,403,355 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03263:Nhsl1
|
APN |
10 |
18,373,827 (GRCm39) |
nonsense |
probably null |
|
|
IGL03380:Nhsl1
|
APN |
10 |
18,399,627 (GRCm39) |
nonsense |
probably null |
|
|
PIT4651001:Nhsl1
|
UTSW |
10 |
18,284,183 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,401,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Nhsl1
|
UTSW |
10 |
18,401,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0116:Nhsl1
|
UTSW |
10 |
18,400,990 (GRCm39) |
nonsense |
probably null |
|
|
R0245:Nhsl1
|
UTSW |
10 |
18,400,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Nhsl1
|
UTSW |
10 |
18,348,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0288:Nhsl1
|
UTSW |
10 |
18,399,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0648:Nhsl1
|
UTSW |
10 |
18,407,474 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1055:Nhsl1
|
UTSW |
10 |
18,401,223 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1300:Nhsl1
|
UTSW |
10 |
18,284,209 (GRCm39) |
missense |
probably benign |
|
|
R1384:Nhsl1
|
UTSW |
10 |
18,284,261 (GRCm39) |
missense |
probably null |
0.96 |
|
R1453:Nhsl1
|
UTSW |
10 |
18,407,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1523:Nhsl1
|
UTSW |
10 |
18,284,103 (GRCm39) |
missense |
probably benign |
|
|
R1595:Nhsl1
|
UTSW |
10 |
18,402,096 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1786:Nhsl1
|
UTSW |
10 |
18,400,412 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1836:Nhsl1
|
UTSW |
10 |
18,400,653 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1878:Nhsl1
|
UTSW |
10 |
18,400,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2013:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2015:Nhsl1
|
UTSW |
10 |
18,387,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3115:Nhsl1
|
UTSW |
10 |
18,400,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Nhsl1
|
UTSW |
10 |
18,400,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3754:Nhsl1
|
UTSW |
10 |
18,391,782 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4342:Nhsl1
|
UTSW |
10 |
18,402,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4595:Nhsl1
|
UTSW |
10 |
18,403,357 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4604:Nhsl1
|
UTSW |
10 |
18,407,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4666:Nhsl1
|
UTSW |
10 |
18,407,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5223:Nhsl1
|
UTSW |
10 |
18,402,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5258:Nhsl1
|
UTSW |
10 |
18,400,070 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Nhsl1
|
UTSW |
10 |
18,402,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5796:Nhsl1
|
UTSW |
10 |
18,399,998 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5960:Nhsl1
|
UTSW |
10 |
18,402,724 (GRCm39) |
missense |
probably benign |
|
|
R6190:Nhsl1
|
UTSW |
10 |
18,345,789 (GRCm39) |
intron |
probably benign |
|
|
R6272:Nhsl1
|
UTSW |
10 |
18,400,253 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6677:Nhsl1
|
UTSW |
10 |
18,401,610 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6714:Nhsl1
|
UTSW |
10 |
18,400,459 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6765:Nhsl1
|
UTSW |
10 |
18,407,062 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6892:Nhsl1
|
UTSW |
10 |
18,400,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7049:Nhsl1
|
UTSW |
10 |
18,407,386 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7060:Nhsl1
|
UTSW |
10 |
18,402,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Nhsl1
|
UTSW |
10 |
18,401,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7299:Nhsl1
|
UTSW |
10 |
18,403,419 (GRCm39) |
splice site |
probably null |
|
|
R7305:Nhsl1
|
UTSW |
10 |
18,407,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7513:Nhsl1
|
UTSW |
10 |
18,399,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7566:Nhsl1
|
UTSW |
10 |
18,391,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8008:Nhsl1
|
UTSW |
10 |
18,284,186 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8135:Nhsl1
|
UTSW |
10 |
18,407,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8240:Nhsl1
|
UTSW |
10 |
18,402,487 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8391:Nhsl1
|
UTSW |
10 |
18,400,691 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8396:Nhsl1
|
UTSW |
10 |
18,400,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8752:Nhsl1
|
UTSW |
10 |
18,407,113 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9022:Nhsl1
|
UTSW |
10 |
18,403,409 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9087:Nhsl1
|
UTSW |
10 |
18,407,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9396:Nhsl1
|
UTSW |
10 |
18,399,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9665:Nhsl1
|
UTSW |
10 |
18,401,599 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9673:Nhsl1
|
UTSW |
10 |
18,402,665 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1177:Nhsl1
|
UTSW |
10 |
18,402,337 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTCCTTTGTGTTGGATG -3'
(R):5'- ATTGCTACCTGGACTGCCTC -3'
Sequencing Primer
(F):5'- TGAACTCCGTGATCGCCG -3'
(R):5'- TCAGAAAGCTGAGCCTGGGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation