Incidental Mutation 'R6892:Nhsl1'
ID |
538114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
044986-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6892 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18400091 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 439
(T439I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147021
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000100054]
[ENSMUST00000162891]
[ENSMUST00000207038]
|
AlphaFold |
Q8CAF4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037341
AA Change: T409I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: T409I
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: T405I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: T405I
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: T405I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124072 Gene: ENSMUSG00000039835 AA Change: T405I
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 damaging
Transcript: ENSMUST00000207038
AA Change: T439I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1682 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.6%
|
Validation Efficiency |
96% (54/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930442H23Rik |
C |
A |
10: 81,018,978 (GRCm39) |
|
probably benign |
Het |
4933421I07Rik |
T |
C |
7: 42,095,831 (GRCm39) |
Q139R |
probably benign |
Het |
A930002H24Rik |
C |
T |
17: 64,170,759 (GRCm39) |
V10M |
unknown |
Het |
Acvr2a |
T |
A |
2: 48,787,087 (GRCm39) |
L394Q |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,865,505 (GRCm39) |
Y830H |
probably damaging |
Het |
Atp8b4 |
T |
A |
2: 126,184,922 (GRCm39) |
I914F |
possibly damaging |
Het |
Bltp3b |
G |
A |
10: 89,640,985 (GRCm39) |
V719I |
probably benign |
Het |
Cab39 |
A |
G |
1: 85,776,098 (GRCm39) |
D265G |
probably damaging |
Het |
Capn5 |
A |
T |
7: 97,785,148 (GRCm39) |
W109R |
probably damaging |
Het |
Cdk18 |
G |
T |
1: 132,049,848 (GRCm39) |
T44K |
probably benign |
Het |
Cdt1 |
T |
A |
8: 123,296,951 (GRCm39) |
N248K |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,583,628 (GRCm39) |
R248L |
probably benign |
Het |
Cpt1a |
G |
A |
19: 3,421,660 (GRCm39) |
V481M |
probably benign |
Het |
Cyp3a11 |
G |
A |
5: 145,797,258 (GRCm39) |
L374F |
probably damaging |
Het |
Dcdc2a |
A |
G |
13: 25,240,443 (GRCm39) |
N64D |
probably damaging |
Het |
Dmxl1 |
G |
A |
18: 50,053,969 (GRCm39) |
R2525Q |
probably damaging |
Het |
Dscaml1 |
G |
A |
9: 45,595,128 (GRCm39) |
V744M |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,605,335 (GRCm39) |
E2391K |
probably benign |
Het |
Ezh1 |
A |
T |
11: 101,090,187 (GRCm39) |
Y522* |
probably null |
Het |
Fzd3 |
G |
C |
14: 65,447,330 (GRCm39) |
A533G |
possibly damaging |
Het |
Gm14403 |
T |
G |
2: 177,201,040 (GRCm39) |
C329G |
probably damaging |
Het |
Gm17067 |
A |
C |
7: 42,360,099 (GRCm39) |
|
probably null |
Het |
Gm38119 |
A |
G |
3: 92,645,529 (GRCm39) |
C22R |
unknown |
Het |
Grep1 |
A |
G |
17: 23,931,328 (GRCm39) |
L193P |
probably damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,455,100 (GRCm39) |
S588P |
probably benign |
Het |
Ift140 |
A |
G |
17: 25,239,520 (GRCm39) |
E59G |
possibly damaging |
Het |
Ints1 |
A |
T |
5: 139,753,583 (GRCm39) |
M683K |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,219,327 (GRCm39) |
M470V |
probably damaging |
Het |
Mptx1 |
A |
G |
1: 174,159,831 (GRCm39) |
R46G |
probably benign |
Het |
Or10a49 |
A |
G |
7: 108,467,722 (GRCm39) |
L213P |
probably damaging |
Het |
Peg3 |
C |
T |
7: 6,711,898 (GRCm39) |
S1108N |
possibly damaging |
Het |
Pgm1 |
A |
G |
4: 99,786,905 (GRCm39) |
E48G |
probably benign |
Het |
Pkhd1 |
G |
A |
1: 20,593,739 (GRCm39) |
T1458I |
probably damaging |
Het |
Polr1a |
A |
T |
6: 71,941,696 (GRCm39) |
D1068V |
possibly damaging |
Het |
Ptprq |
T |
C |
10: 107,411,865 (GRCm39) |
T1834A |
probably benign |
Het |
Rapgef1 |
T |
C |
2: 29,589,852 (GRCm39) |
|
probably null |
Het |
Rgl1 |
A |
T |
1: 152,415,691 (GRCm39) |
D409E |
probably benign |
Het |
Rgsl1 |
G |
T |
1: 153,697,245 (GRCm39) |
Y558* |
probably null |
Het |
Rock1 |
C |
T |
18: 10,122,612 (GRCm39) |
R403H |
probably benign |
Het |
Scn11a |
T |
A |
9: 119,636,035 (GRCm39) |
D304V |
possibly damaging |
Het |
Sdk1 |
A |
T |
5: 142,032,053 (GRCm39) |
I1043F |
probably benign |
Het |
Sgms2 |
A |
G |
3: 131,135,803 (GRCm39) |
Y24H |
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,755,495 (GRCm39) |
I372T |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,092,187 (GRCm39) |
M526T |
probably benign |
Het |
Stxbp5l |
A |
T |
16: 37,008,991 (GRCm39) |
S683T |
possibly damaging |
Het |
Syk |
A |
T |
13: 52,786,934 (GRCm39) |
R332S |
probably benign |
Het |
Syne2 |
T |
A |
12: 76,009,302 (GRCm39) |
V2401E |
probably damaging |
Het |
Tarm1 |
T |
C |
7: 3,546,006 (GRCm39) |
Y87C |
probably damaging |
Het |
Tbc1d22b |
A |
G |
17: 29,814,864 (GRCm39) |
K378E |
possibly damaging |
Het |
Tcte1 |
A |
G |
17: 45,844,083 (GRCm39) |
T20A |
probably benign |
Het |
Tor1aip2 |
A |
T |
1: 155,940,927 (GRCm39) |
Y411F |
possibly damaging |
Het |
Trim43c |
T |
A |
9: 88,726,977 (GRCm39) |
M267K |
probably benign |
Het |
Ubr2 |
T |
G |
17: 47,245,034 (GRCm39) |
Y1664S |
probably damaging |
Het |
Vmn1r41 |
C |
A |
6: 89,724,163 (GRCm39) |
Q235K |
possibly damaging |
Het |
Wdr17 |
T |
C |
8: 55,126,631 (GRCm39) |
T401A |
probably damaging |
Het |
Zfp454 |
A |
G |
11: 50,764,025 (GRCm39) |
L469P |
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 |
|
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 |
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'- CCTGGGCTCTACTGAAGATACG -3'
(R):5'- GCCCGTGAATGAATGAGATGAC -3'
Sequencing Primer
(F):5'- TGAAGATACGGATGACACTTCTCC -3'
(R):5'- AATGAGATGACCCTCGTTCCAGTG -3'
|
Posted On |
2018-11-06 |