Incidental Mutation 'R5707:Nhsl1'
ID |
452029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nhsl1
|
Ensembl Gene |
ENSMUSG00000039835 |
Gene Name |
NHS like 1 |
Synonyms |
A630035H13Rik, 5730409E15Rik, D10Bwg0940e |
MMRRC Submission |
043332-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5707 (G1)
|
Quality Score |
183 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
18194733-18409640 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 18402251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1159
(T1159M)
|
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: T1129M
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000040799 Gene: ENSMUSG00000039835 AA Change: T1129M
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: T1125M
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000097631 Gene: ENSMUSG00000039835 AA Change: T1125M
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: T1159M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,460,620 (GRCm39) |
L4210P |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,622 (GRCm39) |
T518A |
probably damaging |
Het |
Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
Aqp11 |
A |
G |
7: 97,386,635 (GRCm39) |
V187A |
possibly damaging |
Het |
Arhgef15 |
A |
G |
11: 68,845,541 (GRCm39) |
S104P |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,003,399 (GRCm39) |
N4762K |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,509,463 (GRCm39) |
D264G |
probably damaging |
Het |
Cela3b |
G |
T |
4: 137,152,167 (GRCm39) |
Q97K |
probably damaging |
Het |
Cenpc1 |
T |
A |
5: 86,183,293 (GRCm39) |
R499W |
possibly damaging |
Het |
Chct1 |
A |
G |
11: 85,064,138 (GRCm39) |
N93S |
probably benign |
Het |
Cnr1 |
C |
A |
4: 33,944,330 (GRCm39) |
C239* |
probably null |
Het |
Col6a2 |
T |
C |
10: 76,446,865 (GRCm39) |
K348E |
possibly damaging |
Het |
Ctnnb1 |
C |
A |
9: 120,784,234 (GRCm39) |
L368I |
probably benign |
Het |
Diras1 |
T |
C |
10: 80,857,915 (GRCm39) |
E112G |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,385,050 (GRCm39) |
M332K |
possibly damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,325,563 (GRCm39) |
*747W |
probably null |
Het |
Dydc2 |
T |
G |
14: 40,783,911 (GRCm39) |
T71P |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,491,698 (GRCm39) |
Y686C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,072 (GRCm39) |
I429N |
probably benign |
Het |
Gm5114 |
G |
C |
7: 39,060,700 (GRCm39) |
L50V |
probably benign |
Het |
Gm5121 |
T |
G |
9: 57,241,766 (GRCm39) |
|
noncoding transcript |
Het |
Kidins220 |
A |
G |
12: 25,063,390 (GRCm39) |
D933G |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,924,572 (GRCm39) |
K286R |
probably damaging |
Het |
Klf5 |
T |
C |
14: 99,538,944 (GRCm39) |
I39T |
probably benign |
Het |
Krt14 |
C |
T |
11: 100,095,584 (GRCm39) |
V274I |
possibly damaging |
Het |
Meiob |
A |
G |
17: 25,054,025 (GRCm39) |
D364G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,539,082 (GRCm39) |
E1190D |
possibly damaging |
Het |
Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
Odad4 |
G |
A |
11: 100,444,887 (GRCm39) |
A348T |
probably damaging |
Het |
Or1af1 |
C |
A |
2: 37,109,901 (GRCm39) |
N133K |
probably benign |
Het |
Or1e23 |
G |
T |
11: 73,407,451 (GRCm39) |
D191E |
probably damaging |
Het |
Or2b2b |
A |
G |
13: 21,858,769 (GRCm39) |
L115P |
probably damaging |
Het |
Pcare |
G |
T |
17: 72,058,567 (GRCm39) |
A370E |
possibly damaging |
Het |
Pdlim5 |
T |
A |
3: 142,010,060 (GRCm39) |
H294L |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,288,057 (GRCm39) |
D1114E |
probably benign |
Het |
Phf20 |
T |
G |
2: 156,138,691 (GRCm39) |
|
probably null |
Het |
Plec |
C |
T |
15: 76,083,871 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,178,128 (GRCm39) |
M1T |
probably null |
Het |
Ppp4r3a |
G |
A |
12: 101,024,770 (GRCm39) |
T243I |
probably damaging |
Het |
Prss41 |
C |
T |
17: 24,061,390 (GRCm39) |
V134I |
probably benign |
Het |
Pter |
T |
C |
2: 12,982,991 (GRCm39) |
|
probably benign |
Het |
Rasgef1b |
T |
G |
5: 99,382,461 (GRCm39) |
K176N |
possibly damaging |
Het |
Reps1 |
T |
A |
10: 17,931,758 (GRCm39) |
D16E |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,238,397 (GRCm39) |
D73E |
probably benign |
Het |
Smgc |
A |
T |
15: 91,744,861 (GRCm39) |
T146S |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,093,174 (GRCm39) |
W396R |
possibly damaging |
Het |
Stkld1 |
A |
G |
2: 26,833,999 (GRCm39) |
E162G |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,588,874 (GRCm39) |
F106L |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,193,883 (GRCm39) |
Y340H |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,938,009 (GRCm39) |
I1556V |
possibly damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,288 (GRCm39) |
C113R |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,281,977 (GRCm39) |
F188L |
possibly damaging |
Het |
Ucn3 |
A |
G |
13: 3,991,556 (GRCm39) |
V32A |
probably benign |
Het |
Vmn2r83 |
T |
A |
10: 79,327,183 (GRCm39) |
M597K |
possibly damaging |
Het |
Wdr90 |
A |
G |
17: 26,076,166 (GRCm39) |
V491A |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,255,717 (GRCm39) |
M763K |
possibly damaging |
Het |
Zfp507 |
G |
T |
7: 35,493,588 (GRCm39) |
A485E |
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 |
|
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'- GATCACCACAGAAGCTTTGCAG -3'
(R):5'- TACCACCAGGAACAGTTTGGG -3'
Sequencing Primer
(F):5'- CCACAGAAGCTTTGCAGATGGTG -3'
(R):5'- ACCAGGAACAGTTTGGGCTTCTTAG -3'
|
Posted On |
2017-01-03 |