Incidental Mutation 'R7566:Nhsl1'
| ID |
585461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl1
|
| Ensembl Gene |
ENSMUSG00000039835 |
| Gene Name |
NHS like 1 |
| Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
| MMRRC Submission |
045628-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7566 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18391867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 207
(K207R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124072
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037341
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
| 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 damaging
Transcript: ENSMUST00000100054
AA Change: K207R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097631
Gene: ENSMUSG00000039835
AA Change: K207R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
253 |
902 |
7.3e-250 |
PFAM |
|
low complexity region
|
914 |
934 |
N/A |
INTRINSIC |
|
low complexity region
|
938 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
966 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1167 |
1193 |
N/A |
INTRINSIC |
|
low complexity region
|
1369 |
1381 |
N/A |
INTRINSIC |
|
low complexity region
|
1438 |
1456 |
N/A |
INTRINSIC |
|
low complexity region
|
1480 |
1499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162891
AA Change: K207R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124072
Gene: ENSMUSG00000039835
AA Change: K207R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
207 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
253 |
902 |
2.1e-250 |
PFAM |
|
low complexity region
|
914 |
934 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207038
|
| Meta Mutation Damage Score |
0.1398 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
G |
1: 12,021,252 (GRCm39) |
S420R |
probably damaging |
Het |
| Acat2 |
C |
T |
17: 13,166,346 (GRCm39) |
D219N |
probably damaging |
Het |
| Anapc10 |
G |
A |
8: 80,446,308 (GRCm39) |
R46Q |
possibly damaging |
Het |
| Ankub1 |
G |
A |
3: 57,573,039 (GRCm39) |
R228* |
probably null |
Het |
| Arhgap21 |
T |
C |
2: 20,917,102 (GRCm39) |
N91S |
probably benign |
Het |
| Arhgap32 |
T |
A |
9: 32,162,018 (GRCm39) |
V323D |
probably benign |
Het |
| Bcas1 |
C |
T |
2: 170,212,369 (GRCm39) |
|
probably null |
Het |
| Cd109 |
C |
T |
9: 78,588,119 (GRCm39) |
P716S |
probably damaging |
Het |
| Chd4 |
C |
T |
6: 125,078,866 (GRCm39) |
P267L |
possibly damaging |
Het |
| Cpne7 |
G |
T |
8: 123,860,552 (GRCm39) |
V502F |
probably damaging |
Het |
| Cracd |
G |
A |
5: 77,014,122 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
C |
T |
2: 156,604,657 (GRCm39) |
A921V |
probably benign |
Het |
| Faap24 |
G |
T |
7: 35,092,465 (GRCm39) |
R151S |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,854,657 (GRCm39) |
S51P |
probably damaging |
Het |
| Fbxl8 |
A |
G |
8: 105,994,938 (GRCm39) |
D150G |
possibly damaging |
Het |
| Fut10 |
A |
G |
8: 31,749,950 (GRCm39) |
K412R |
probably benign |
Het |
| G0s2 |
T |
C |
1: 192,955,076 (GRCm39) |
S3G |
probably benign |
Het |
| Gm1527 |
T |
C |
3: 28,974,767 (GRCm39) |
Y527H |
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,733,510 (GRCm39) |
K227R |
possibly damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,242,848 (GRCm39) |
Y354C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,344,869 (GRCm39) |
N4685K |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,791,279 (GRCm39) |
Y717F |
probably benign |
Het |
| Kcnh5 |
C |
T |
12: 75,161,166 (GRCm39) |
W247* |
probably null |
Het |
| Kcnt1 |
C |
A |
2: 25,806,048 (GRCm39) |
S1212R |
probably benign |
Het |
| Kirrel1 |
A |
G |
3: 86,995,791 (GRCm39) |
V381A |
probably damaging |
Het |
| Loxl1 |
T |
A |
9: 58,219,481 (GRCm39) |
Q230L |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,655,308 (GRCm39) |
E1446G |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,330 (GRCm39) |
V550A |
possibly damaging |
Het |
| Mgat4d |
T |
C |
8: 84,084,652 (GRCm39) |
S132P |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,549,925 (GRCm39) |
H5456L |
probably benign |
Het |
| Nlrp4a |
A |
C |
7: 26,148,670 (GRCm39) |
|
probably null |
Het |
| Nr6a1 |
T |
C |
2: 38,621,085 (GRCm39) |
M407V |
possibly damaging |
Het |
| Or13c7b |
A |
G |
4: 43,820,711 (GRCm39) |
S217P |
probably damaging |
Het |
| Or2b2b |
T |
G |
13: 21,858,737 (GRCm39) |
I126L |
possibly damaging |
Het |
| Or2z2 |
G |
T |
11: 58,346,489 (GRCm39) |
F95L |
probably benign |
Het |
| Or6c206 |
T |
C |
10: 129,097,469 (GRCm39) |
I213T |
probably damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,881,626 (GRCm39) |
|
probably benign |
Het |
| Ovol3 |
G |
T |
7: 29,933,791 (GRCm39) |
F110L |
probably damaging |
Het |
| Pcsk5 |
T |
C |
19: 17,549,821 (GRCm39) |
T724A |
probably benign |
Het |
| Phtf2 |
G |
T |
5: 20,970,799 (GRCm39) |
T653N |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,688,663 (GRCm39) |
|
probably null |
Het |
| Prkce |
A |
T |
17: 86,800,757 (GRCm39) |
E391V |
probably benign |
Het |
| Prob1 |
A |
G |
18: 35,788,038 (GRCm39) |
V72A |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,084,402 (GRCm39) |
P289Q |
probably benign |
Het |
| Ptbp3 |
A |
T |
4: 59,514,280 (GRCm39) |
N114K |
probably benign |
Het |
| Rho |
T |
A |
6: 115,909,135 (GRCm39) |
L57H |
probably damaging |
Het |
| Slc44a5 |
A |
C |
3: 153,975,626 (GRCm39) |
D679A |
probably damaging |
Het |
| Slit2 |
A |
T |
5: 48,407,239 (GRCm39) |
D898V |
probably damaging |
Het |
| Spag16 |
C |
T |
1: 69,909,487 (GRCm39) |
R195C |
probably damaging |
Het |
| Tmprss11a |
T |
G |
5: 86,591,993 (GRCm39) |
D60A |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,565,293 (GRCm39) |
R28311S |
probably damaging |
Het |
| Wfikkn1 |
T |
C |
17: 26,097,352 (GRCm39) |
D324G |
probably damaging |
Het |
| Zan |
A |
C |
5: 137,410,845 (GRCm39) |
|
probably null |
Het |
| Zfp945 |
A |
T |
17: 23,070,727 (GRCm39) |
C412S |
possibly 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 |
|
|
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 |
|
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'- CAGCCTCCATCATCCATGTG -3'
(R):5'- CGTAACAATCACCTTAGACCTCTTC -3'
Sequencing Primer
(F):5'- ATCCATGTGACCTGGCTAAC -3'
(R):5'- ACCTTAGACCTCTTCCAGAAGCTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation