Incidental Mutation 'R5223:Nhsl1'
ID |
402440 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
042796-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5223 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 18402074 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1100
(V1100E)
|
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: V1070E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: V1070E
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: V1066E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: V1066E
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 |
noncoding transcript
Transcript: ENSMUST00000159299
|
SMART Domains |
Protein: ENSMUSP00000124629 Gene: ENSMUSG00000039835
Domain | Start | End | E-Value | Type |
low complexity region
|
79 |
90 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162891
|
SMART Domains |
Protein: ENSMUSP00000124072 Gene: ENSMUSG00000039835
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: V1100E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
C |
T |
11: 119,904,278 (GRCm39) |
V273M |
possibly damaging |
Het |
Acin1 |
CCGC |
CC |
14: 54,880,398 (GRCm39) |
|
probably null |
Het |
Acvr1b |
T |
A |
15: 101,091,857 (GRCm39) |
C46S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,846,818 (GRCm39) |
H416L |
possibly damaging |
Het |
Aspm |
T |
A |
1: 139,406,072 (GRCm39) |
L1653Q |
probably damaging |
Het |
Cacna1a |
G |
A |
8: 85,313,824 (GRCm39) |
V1533M |
possibly damaging |
Het |
Ccdc33 |
C |
T |
9: 57,940,267 (GRCm39) |
E502K |
possibly damaging |
Het |
Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
Cyp2a12 |
A |
T |
7: 26,735,888 (GRCm39) |
|
probably null |
Het |
Dnai4 |
T |
A |
4: 102,906,600 (GRCm39) |
S738C |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,816,496 (GRCm39) |
V2675A |
probably damaging |
Het |
Foxh1 |
T |
A |
15: 76,552,929 (GRCm39) |
|
probably null |
Het |
Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
Gpnmb |
C |
T |
6: 49,033,139 (GRCm39) |
T539M |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,799,867 (GRCm39) |
E286G |
probably benign |
Het |
Hspa9 |
A |
G |
18: 35,085,724 (GRCm39) |
|
probably null |
Het |
Hspg2 |
T |
C |
4: 137,271,225 (GRCm39) |
L2454P |
probably damaging |
Het |
Ift140 |
T |
A |
17: 25,254,786 (GRCm39) |
I422N |
probably benign |
Het |
Igkv6-32 |
T |
C |
6: 70,051,207 (GRCm39) |
S50G |
probably benign |
Het |
Il23r |
T |
A |
6: 67,463,154 (GRCm39) |
Y113F |
probably benign |
Het |
Kcnt1 |
A |
G |
2: 25,793,434 (GRCm39) |
D636G |
probably benign |
Het |
Klhl41 |
G |
A |
2: 69,510,171 (GRCm39) |
W569* |
probably null |
Het |
Klra4 |
T |
A |
6: 130,039,110 (GRCm39) |
D94V |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,280,666 (GRCm39) |
H378L |
probably benign |
Het |
Lhx8 |
T |
A |
3: 154,027,281 (GRCm39) |
T254S |
probably damaging |
Het |
Lrch3 |
C |
T |
16: 32,734,767 (GRCm39) |
R86W |
probably damaging |
Het |
Lrp2 |
T |
A |
2: 69,354,397 (GRCm39) |
N477I |
probably damaging |
Het |
Man2a1 |
T |
A |
17: 65,019,266 (GRCm39) |
I710K |
probably benign |
Het |
Ncor1 |
A |
T |
11: 62,229,826 (GRCm39) |
Y881N |
probably damaging |
Het |
Oprk1 |
T |
C |
1: 5,659,519 (GRCm39) |
V83A |
probably benign |
Het |
Or4p8 |
T |
C |
2: 88,727,678 (GRCm39) |
T88A |
probably benign |
Het |
Or5p62 |
A |
G |
7: 107,771,915 (GRCm39) |
V12A |
probably benign |
Het |
Or7g35 |
T |
C |
9: 19,496,322 (GRCm39) |
V163A |
probably benign |
Het |
Pacs1 |
C |
T |
19: 5,195,169 (GRCm39) |
V472I |
probably benign |
Het |
Pard3b |
T |
C |
1: 62,383,272 (GRCm39) |
Y789H |
probably damaging |
Het |
Pcdha2 |
T |
C |
18: 37,073,844 (GRCm39) |
Y492H |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,216,106 (GRCm39) |
N2261D |
probably damaging |
Het |
Pex5l |
A |
T |
3: 33,012,945 (GRCm39) |
S15T |
probably damaging |
Het |
Plekhg4 |
A |
G |
8: 106,105,581 (GRCm39) |
N682S |
probably benign |
Het |
Poc5 |
A |
T |
13: 96,539,463 (GRCm39) |
M335L |
probably benign |
Het |
Polr1a |
C |
T |
6: 71,944,891 (GRCm39) |
R1316W |
possibly damaging |
Het |
Pp2d1 |
T |
C |
17: 53,814,873 (GRCm39) |
H617R |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,454,591 (GRCm39) |
S296R |
probably benign |
Het |
Prpsap1 |
T |
C |
11: 116,378,974 (GRCm39) |
K65E |
probably benign |
Het |
Ptgfrn |
T |
C |
3: 100,952,909 (GRCm39) |
E775G |
probably benign |
Het |
Ptprc |
T |
A |
1: 138,045,600 (GRCm39) |
I87F |
probably benign |
Het |
Rbbp8 |
C |
A |
18: 11,854,747 (GRCm39) |
A324E |
probably benign |
Het |
Rfx6 |
G |
T |
10: 51,554,092 (GRCm39) |
G63* |
probably null |
Het |
Rpl37a |
T |
C |
1: 72,751,308 (GRCm39) |
M47T |
probably benign |
Het |
Samm50 |
T |
G |
15: 84,084,831 (GRCm39) |
N187K |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,064,142 (GRCm39) |
|
probably null |
Het |
Slamf9 |
T |
C |
1: 172,303,799 (GRCm39) |
I48T |
possibly damaging |
Het |
Slc2a12 |
A |
G |
10: 22,577,931 (GRCm39) |
K576E |
probably damaging |
Het |
Slc4a10 |
G |
A |
2: 62,083,710 (GRCm39) |
G388S |
probably damaging |
Het |
Smtn |
G |
T |
11: 3,479,530 (GRCm39) |
N512K |
probably benign |
Het |
Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,455,258 (GRCm39) |
Y3040C |
probably damaging |
Het |
Stat1 |
T |
A |
1: 52,183,401 (GRCm39) |
V389E |
probably damaging |
Het |
Sult5a1 |
A |
T |
8: 123,872,161 (GRCm39) |
M227K |
probably damaging |
Het |
Thsd4 |
T |
C |
9: 59,964,325 (GRCm39) |
D389G |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,923,052 (GRCm39) |
V2545A |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,142,589 (GRCm39) |
I712F |
probably damaging |
Het |
Trim62 |
T |
C |
4: 128,803,204 (GRCm39) |
V418A |
probably damaging |
Het |
Uqcrc1 |
C |
A |
9: 108,771,224 (GRCm39) |
H95N |
probably damaging |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Vmn2r66 |
T |
C |
7: 84,657,093 (GRCm39) |
D104G |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,015,251 (GRCm39) |
I371V |
probably benign |
Het |
Zfp273 |
T |
G |
13: 67,974,298 (GRCm39) |
C475W |
probably damaging |
Het |
Zfp738 |
G |
T |
13: 67,821,182 (GRCm39) |
T55K |
probably damaging |
Het |
Zmym2 |
A |
G |
14: 57,183,971 (GRCm39) |
I978V |
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 |
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'- AAGATCCTTGCCTCCTGTGC -3'
(R):5'- ACTGCACTGTCATGGTCAC -3'
Sequencing Primer
(F):5'- TGTGCCAGCACCTCCAC -3'
(R):5'- TCTTGGCAGGCATCGGAAG -3'
|
Posted On |
2016-07-22 |