Incidental Mutation 'IGL03231:Nhsl3'
| ID |
413924 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nhsl3
|
| Ensembl Gene |
ENSMUSG00000050390 |
| Gene Name |
NHS like 3 |
| Synonyms |
C77080 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
IGL03231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
129113371-129155194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 129117474 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 385
(V385I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101666
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052602]
[ENSMUST00000097873]
[ENSMUST00000106051]
[ENSMUST00000106054]
[ENSMUST00000145261]
[ENSMUST00000146376]
|
| AlphaFold |
A2A7S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052602
AA Change: V442I
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: V442I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
80 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
273 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
464 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
550 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
621 |
634 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
739 |
N/A |
INTRINSIC |
|
low complexity region
|
743 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
810 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
916 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
988 |
1020 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097873
AA Change: V397I
PolyPhen 2
Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: V397I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
164 |
170 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
348 |
373 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
447 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
505 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
694 |
N/A |
INTRINSIC |
|
low complexity region
|
698 |
728 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
788 |
N/A |
INTRINSIC |
|
low complexity region
|
871 |
885 |
N/A |
INTRINSIC |
|
low complexity region
|
943 |
975 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106051
AA Change: V385I
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: V385I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
152 |
158 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
308 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
336 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
392 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
531 |
N/A |
INTRINSIC |
|
low complexity region
|
564 |
577 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
667 |
682 |
N/A |
INTRINSIC |
|
low complexity region
|
686 |
716 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
859 |
873 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
963 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106054
|
| SMART Domains |
Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:tRNA-synt_1b
|
67 |
358 |
1e-78 |
PFAM |
|
Pfam:tRNA_bind
|
406 |
502 |
7.1e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146376
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
| Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
| Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
| Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
| Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
| Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
| Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
| Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
| Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
| Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
| Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
| Tm9sf2 |
T |
G |
14: 122,378,664 (GRCm39) |
I256R |
possibly damaging |
Het |
| Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
| Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably damaging |
Het |
|
| Other mutations in Nhsl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01530:Nhsl3
|
APN |
4 |
129,116,589 (GRCm39) |
splice site |
probably null |
|
|
IGL02654:Nhsl3
|
APN |
4 |
129,116,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Nhsl3
|
APN |
4 |
129,117,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03134:Nhsl3
|
UTSW |
4 |
129,116,280 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0078:Nhsl3
|
UTSW |
4 |
129,121,516 (GRCm39) |
splice site |
probably null |
|
|
R0418:Nhsl3
|
UTSW |
4 |
129,117,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1374:Nhsl3
|
UTSW |
4 |
129,116,082 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1632:Nhsl3
|
UTSW |
4 |
129,116,459 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1735:Nhsl3
|
UTSW |
4 |
129,117,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Nhsl3
|
UTSW |
4 |
129,119,810 (GRCm39) |
splice site |
probably benign |
|
|
R2018:Nhsl3
|
UTSW |
4 |
129,116,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2157:Nhsl3
|
UTSW |
4 |
129,117,917 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2201:Nhsl3
|
UTSW |
4 |
129,116,432 (GRCm39) |
missense |
probably benign |
|
|
R2316:Nhsl3
|
UTSW |
4 |
129,117,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3751:Nhsl3
|
UTSW |
4 |
129,118,115 (GRCm39) |
unclassified |
probably benign |
|
|
R4648:Nhsl3
|
UTSW |
4 |
129,115,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4790:Nhsl3
|
UTSW |
4 |
129,117,095 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Nhsl3
|
UTSW |
4 |
129,118,238 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Nhsl3
|
UTSW |
4 |
129,116,478 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5270:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5272:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5273:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5314:Nhsl3
|
UTSW |
4 |
129,118,005 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5548:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
|
R5752:Nhsl3
|
UTSW |
4 |
129,117,773 (GRCm39) |
frame shift |
probably null |
|
|
R5908:Nhsl3
|
UTSW |
4 |
129,115,941 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5960:Nhsl3
|
UTSW |
4 |
129,115,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7024:Nhsl3
|
UTSW |
4 |
129,119,201 (GRCm39) |
missense |
probably null |
0.73 |
|
R7296:Nhsl3
|
UTSW |
4 |
129,119,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7447:Nhsl3
|
UTSW |
4 |
129,115,835 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7638:Nhsl3
|
UTSW |
4 |
129,115,734 (GRCm39) |
missense |
probably benign |
|
|
R7689:Nhsl3
|
UTSW |
4 |
129,117,566 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7819:Nhsl3
|
UTSW |
4 |
129,116,276 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8213:Nhsl3
|
UTSW |
4 |
129,115,252 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8219:Nhsl3
|
UTSW |
4 |
129,141,946 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8348:Nhsl3
|
UTSW |
4 |
129,117,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8360:Nhsl3
|
UTSW |
4 |
129,117,995 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8788:Nhsl3
|
UTSW |
4 |
129,119,743 (GRCm39) |
missense |
probably benign |
|
|
R9252:Nhsl3
|
UTSW |
4 |
129,117,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9652:Nhsl3
|
UTSW |
4 |
129,117,962 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1088:Nhsl3
|
UTSW |
4 |
129,116,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Nhsl3
|
UTSW |
4 |
129,117,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation