Incidental Mutation 'IGL02642:Nhsl1'
| ID |
301766 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02642
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18284138 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 26
(I26M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040799
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037341]
[ENSMUST00000207038]
|
| AlphaFold |
Q8CAF4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037341
AA Change: I26M
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040799
Gene: ENSMUSG00000039835
AA Change: I26M
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000160602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161510
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207038
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,644,720 (GRCm39) |
D68G |
probably damaging |
Het |
| Amer3 |
A |
G |
1: 34,625,761 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
A |
G |
8: 123,617,390 (GRCm39) |
L2133P |
probably damaging |
Het |
| Bcdin3d |
G |
T |
15: 99,368,673 (GRCm39) |
H175Q |
probably damaging |
Het |
| Brd8 |
C |
A |
18: 34,741,117 (GRCm39) |
|
probably benign |
Het |
| C1rl |
C |
A |
6: 124,470,806 (GRCm39) |
T38N |
possibly damaging |
Het |
| Cd160 |
T |
C |
3: 96,707,927 (GRCm39) |
T140A |
probably benign |
Het |
| Cdk16 |
T |
G |
X: 20,563,167 (GRCm39) |
D381E |
probably benign |
Het |
| Cpq |
G |
A |
15: 33,381,546 (GRCm39) |
G303D |
probably damaging |
Het |
| Dmp1 |
T |
C |
5: 104,359,536 (GRCm39) |
S71P |
probably damaging |
Het |
| Enc1 |
A |
C |
13: 97,382,042 (GRCm39) |
D184A |
possibly damaging |
Het |
| Enkur |
T |
C |
2: 21,199,198 (GRCm39) |
D112G |
probably benign |
Het |
| Esrra |
A |
T |
19: 6,890,218 (GRCm39) |
V59E |
possibly damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,058 (GRCm39) |
N47S |
probably benign |
Het |
| Fads1 |
T |
A |
19: 10,163,785 (GRCm39) |
V189D |
probably damaging |
Het |
| Fam167a |
T |
A |
14: 63,689,721 (GRCm39) |
I6N |
probably damaging |
Het |
| Fam98b |
A |
G |
2: 117,090,793 (GRCm39) |
T164A |
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,373,782 (GRCm39) |
N681D |
possibly damaging |
Het |
| Fryl |
T |
A |
5: 73,252,809 (GRCm39) |
I953L |
probably benign |
Het |
| Gm10610 |
T |
A |
7: 83,198,813 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
G |
T |
7: 24,758,408 (GRCm39) |
N338K |
possibly damaging |
Het |
| Gstt2 |
A |
G |
10: 75,668,652 (GRCm39) |
I72T |
probably benign |
Het |
| Gusb |
T |
C |
5: 130,029,376 (GRCm39) |
|
probably null |
Het |
| Hccs |
A |
G |
X: 168,098,588 (GRCm39) |
|
probably benign |
Het |
| Hoxb4 |
A |
G |
11: 96,211,050 (GRCm39) |
K217E |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,503 (GRCm39) |
V22I |
possibly damaging |
Het |
| Ighv1-47 |
A |
G |
12: 114,954,844 (GRCm39) |
Y79H |
probably damaging |
Het |
| Il7r |
C |
A |
15: 9,513,133 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
T |
17: 68,119,361 (GRCm39) |
M2613L |
probably benign |
Het |
| Lama2 |
G |
A |
10: 27,343,269 (GRCm39) |
H68Y |
probably damaging |
Het |
| Lce1c |
C |
A |
3: 92,587,845 (GRCm39) |
|
probably benign |
Het |
| Lmx1a |
G |
T |
1: 167,672,192 (GRCm39) |
|
probably benign |
Het |
| Lrfn1 |
T |
C |
7: 28,158,113 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 103,057,322 (GRCm39) |
|
probably null |
Het |
| Mri1 |
A |
T |
8: 84,983,702 (GRCm39) |
L63Q |
probably damaging |
Het |
| Mrps11 |
G |
T |
7: 78,438,522 (GRCm39) |
|
probably null |
Het |
| Mtif2 |
C |
A |
11: 29,494,395 (GRCm39) |
Q666K |
probably benign |
Het |
| Mtr |
A |
T |
13: 12,210,118 (GRCm39) |
|
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,859,544 (GRCm39) |
N1181S |
probably benign |
Het |
| Myom1 |
A |
T |
17: 71,408,093 (GRCm39) |
E1209V |
possibly damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,014,358 (GRCm39) |
K297N |
probably benign |
Het |
| Obox5 |
T |
C |
7: 15,491,972 (GRCm39) |
V129A |
probably benign |
Het |
| Pex16 |
C |
T |
2: 92,206,981 (GRCm39) |
A53V |
probably damaging |
Het |
| Pfpl |
T |
C |
19: 12,407,107 (GRCm39) |
F453L |
probably damaging |
Het |
| Pip5k1b |
G |
T |
19: 24,323,731 (GRCm39) |
H406N |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plcxd3 |
T |
C |
15: 4,546,122 (GRCm39) |
F42S |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,940,288 (GRCm39) |
F1056L |
probably benign |
Het |
| Rapgef1 |
T |
C |
2: 29,590,872 (GRCm39) |
|
probably benign |
Het |
| Rdh11 |
G |
A |
12: 79,232,110 (GRCm39) |
|
probably benign |
Het |
| Serac1 |
A |
G |
17: 6,096,021 (GRCm39) |
F576S |
possibly damaging |
Het |
| Slc45a4 |
A |
T |
15: 73,458,664 (GRCm39) |
M295K |
probably benign |
Het |
| Taf1c |
T |
C |
8: 120,325,796 (GRCm39) |
T689A |
probably benign |
Het |
| Timm10b |
G |
T |
7: 105,317,645 (GRCm39) |
|
probably benign |
Het |
| Tle5 |
A |
T |
10: 81,397,126 (GRCm39) |
Q34L |
possibly damaging |
Het |
| Tnc |
A |
T |
4: 63,883,816 (GRCm39) |
|
probably benign |
Het |
| Toporsl |
T |
C |
4: 52,611,114 (GRCm39) |
W336R |
probably benign |
Het |
| Usp54 |
C |
A |
14: 20,615,140 (GRCm39) |
|
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,291 (GRCm39) |
R220G |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation