Incidental Mutation 'PIT4651001:Nhsl1'
ID |
556680 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4651001 (G1)
|
Quality Score |
168.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 18284183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 41
(S41R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040799
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000207038]
|
AlphaFold |
Q8CAF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037341
AA Change: S41R
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: S41R
Domain | Start | End | E-Value | Type |
Pfam:NHS
|
258 |
906 |
1.6e-246 |
PFAM |
low complexity region
|
918 |
938 |
N/A |
INTRINSIC |
low complexity region
|
942 |
950 |
N/A |
INTRINSIC |
low complexity region
|
958 |
970 |
N/A |
INTRINSIC |
low complexity region
|
992 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1171 |
1197 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1385 |
N/A |
INTRINSIC |
low complexity region
|
1442 |
1460 |
N/A |
INTRINSIC |
low complexity region
|
1484 |
1503 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000207038
|
Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.7%
- 10x: 84.4%
- 20x: 70.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,408,014 (GRCm39) |
I428L |
probably benign |
Het |
Aass |
T |
C |
6: 23,118,750 (GRCm39) |
I131V |
probably benign |
Het |
Alcam |
T |
A |
16: 52,115,550 (GRCm39) |
K189N |
probably benign |
Het |
Ankrd50 |
C |
A |
3: 38,509,959 (GRCm39) |
E803* |
probably null |
Het |
Ankrd53 |
A |
G |
6: 83,742,715 (GRCm39) |
D236G |
probably damaging |
Het |
Bard1 |
A |
G |
1: 71,114,087 (GRCm39) |
V298A |
probably benign |
Het |
Cacna1d |
C |
T |
14: 29,900,602 (GRCm39) |
G361D |
probably damaging |
Het |
Camkk1 |
A |
G |
11: 72,916,647 (GRCm39) |
S82G |
probably benign |
Het |
Ccr4 |
A |
T |
9: 114,321,261 (GRCm39) |
V268E |
probably benign |
Het |
Cdh6 |
G |
A |
15: 13,044,805 (GRCm39) |
S439L |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,941,711 (GRCm39) |
A254E |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,225,467 (GRCm39) |
T1078A |
|
Het |
Cyp46a1 |
A |
G |
12: 108,319,367 (GRCm39) |
D288G |
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,037,243 (GRCm39) |
N3333S |
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,765,241 (GRCm39) |
V491A |
probably benign |
Het |
Egr1 |
G |
T |
18: 34,996,240 (GRCm39) |
E341* |
probably null |
Het |
Enpp1 |
G |
A |
10: 24,529,848 (GRCm39) |
P597S |
probably benign |
Het |
Ercc3 |
A |
T |
18: 32,373,365 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,205,909 (GRCm39) |
|
probably null |
Het |
Fbxw11 |
T |
C |
11: 32,661,999 (GRCm39) |
|
probably null |
Het |
Fhip1a |
C |
T |
3: 85,590,948 (GRCm39) |
A389T |
probably damaging |
Het |
Gbf1 |
A |
G |
19: 46,151,982 (GRCm39) |
N5S |
probably benign |
Het |
Gbp4 |
T |
A |
5: 105,266,289 (GRCm39) |
H584L |
probably benign |
Het |
Gcgr |
G |
T |
11: 120,428,968 (GRCm39) |
C402F |
probably damaging |
Het |
Grm7 |
T |
A |
6: 110,623,050 (GRCm39) |
N74K |
probably benign |
Het |
H1f9 |
A |
G |
11: 94,859,142 (GRCm39) |
S146G |
probably benign |
Het |
Hoxa10 |
T |
G |
6: 52,211,877 (GRCm39) |
N13T |
possibly damaging |
Het |
Ice1 |
A |
T |
13: 70,772,040 (GRCm39) |
|
probably null |
Het |
Il22 |
C |
A |
10: 118,041,495 (GRCm39) |
N69K |
probably damaging |
Het |
Il9r |
A |
T |
11: 32,141,798 (GRCm39) |
H319Q |
probably benign |
Het |
Itgax |
A |
G |
7: 127,748,282 (GRCm39) |
T1104A |
probably benign |
Het |
Jag1 |
C |
T |
2: 136,943,617 (GRCm39) |
G193D |
probably damaging |
Het |
Krt13 |
T |
A |
11: 100,010,862 (GRCm39) |
D164V |
probably damaging |
Het |
Lepr |
T |
C |
4: 101,649,194 (GRCm39) |
M865T |
probably damaging |
Het |
Lmf2 |
G |
A |
15: 89,236,272 (GRCm39) |
H576Y |
possibly damaging |
Het |
Lrrc8c |
C |
T |
5: 105,756,189 (GRCm39) |
H655Y |
probably benign |
Het |
Mapk6 |
A |
T |
9: 75,304,869 (GRCm39) |
S183T |
possibly damaging |
Het |
Mcrs1 |
A |
T |
15: 99,144,832 (GRCm39) |
Y261N |
probably damaging |
Het |
Mon1b |
G |
A |
8: 114,365,254 (GRCm39) |
G194D |
probably benign |
Het |
Myo18b |
C |
T |
5: 112,982,301 (GRCm39) |
R1144Q |
probably benign |
Het |
Myo9b |
T |
A |
8: 71,795,456 (GRCm39) |
H808Q |
possibly damaging |
Het |
Ngdn |
T |
C |
14: 55,253,657 (GRCm39) |
I15T |
probably benign |
Het |
Numa1 |
A |
T |
7: 101,663,141 (GRCm39) |
K2089M |
probably damaging |
Het |
Obi1 |
T |
A |
14: 104,743,692 (GRCm39) |
D129V |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,932,507 (GRCm39) |
L4900P |
probably damaging |
Het |
Olfm4 |
T |
A |
14: 80,258,925 (GRCm39) |
L391Q |
probably benign |
Het |
Or10g9b |
A |
T |
9: 39,917,526 (GRCm39) |
C240S |
probably damaging |
Het |
Or2ag1 |
A |
G |
7: 106,472,730 (GRCm39) |
C241R |
probably damaging |
Het |
Or5b106 |
T |
A |
19: 13,123,991 (GRCm39) |
I11F |
probably benign |
Het |
Or5b111 |
A |
G |
19: 13,291,556 (GRCm39) |
I31T |
probably benign |
Het |
Or5m9 |
T |
C |
2: 85,876,862 (GRCm39) |
L12P |
probably damaging |
Het |
Parn |
T |
A |
16: 13,449,431 (GRCm39) |
N302Y |
probably benign |
Het |
Pi4k2b |
T |
G |
5: 52,905,812 (GRCm39) |
S118A |
possibly damaging |
Het |
Piwil4 |
C |
T |
9: 14,620,195 (GRCm39) |
V704I |
possibly damaging |
Het |
Pm20d2 |
G |
A |
4: 33,181,715 (GRCm39) |
T296M |
probably damaging |
Het |
Pmpcb |
C |
T |
5: 21,951,048 (GRCm39) |
A270V |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,106,945 (GRCm39) |
|
probably null |
Het |
Prkn |
T |
A |
17: 11,286,130 (GRCm39) |
L41Q |
probably damaging |
Het |
Rc3h1 |
C |
A |
1: 160,791,110 (GRCm39) |
N931K |
probably benign |
Het |
Rlf |
A |
G |
4: 121,007,510 (GRCm39) |
V600A |
probably damaging |
Het |
Rpl27rt |
A |
T |
18: 34,870,892 (GRCm39) |
Q142L |
unknown |
Het |
Sall1 |
T |
G |
8: 89,757,731 (GRCm39) |
Q791P |
probably damaging |
Het |
Sema3c |
T |
A |
5: 17,899,731 (GRCm39) |
Y408N |
probably benign |
Het |
Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
Tmem181a |
A |
T |
17: 6,351,170 (GRCm39) |
M319L |
probably benign |
Het |
Trim24 |
T |
C |
6: 37,877,667 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,719,278 (GRCm39) |
T7234S |
unknown |
Het |
Unc13c |
T |
A |
9: 73,391,021 (GRCm39) |
M2076L |
possibly damaging |
Het |
Uroc1 |
C |
T |
6: 90,340,095 (GRCm39) |
R667* |
probably null |
Het |
Uvrag |
A |
G |
7: 98,555,727 (GRCm39) |
F456L |
probably benign |
Het |
Vmn1r215 |
T |
C |
13: 23,260,530 (GRCm39) |
V190A |
probably damaging |
Het |
Vmn2r50 |
T |
A |
7: 9,771,659 (GRCm39) |
T681S |
probably benign |
Het |
Vmn2r65 |
T |
A |
7: 84,595,461 (GRCm39) |
T408S |
probably benign |
Het |
Vps33b |
A |
G |
7: 79,939,755 (GRCm39) |
D502G |
probably damaging |
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 |
|
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 |
R9360:Nhsl1
|
UTSW |
10 |
18,194,898 (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'- TCAAGGATCCCGGCCAATTC -3'
(R):5'- GAATGGTACTTAGCTCCAGCAC -3'
Sequencing Primer
(F):5'- GGATCCCGGCCAATTCTAAAAAG -3'
(R):5'- CTGATGGAGCAGGAGAGGAC -3'
|
Posted On |
2019-06-07 |