Incidental Mutation 'R1632:Nhsl3'
| ID |
172837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl3
|
| Ensembl Gene |
ENSMUSG00000050390 |
| Gene Name |
NHS like 3 |
| Synonyms |
C77080 |
| MMRRC Submission |
039669-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R1632 (G1)
|
| Quality Score |
175 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
129113371-129155194 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129116459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 735
(M735T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052602]
[ENSMUST00000097873]
[ENSMUST00000106051]
[ENSMUST00000106054]
[ENSMUST00000145261]
[ENSMUST00000146376]
|
| AlphaFold |
A2A7S8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052602
AA Change: M780T
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000062395
Gene: ENSMUSG00000050390
AA Change: M780T
| 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 |
possibly damaging
Transcript: ENSMUST00000097873
AA Change: M735T
PolyPhen 2
Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095483
Gene: ENSMUSG00000050390
AA Change: M735T
| 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: M723T
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000101666
Gene: ENSMUSG00000050390
AA Change: M723T
| 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 |
noncoding transcript
Transcript: ENSMUST00000137591
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145261
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146376
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap28 |
A |
T |
17: 68,156,069 (GRCm39) |
Y696N |
probably damaging |
Het |
| Cachd1 |
A |
G |
4: 100,824,169 (GRCm39) |
T537A |
probably benign |
Het |
| Capn15 |
A |
T |
17: 26,179,639 (GRCm39) |
F841Y |
probably damaging |
Het |
| Card10 |
G |
A |
15: 78,675,420 (GRCm39) |
R396* |
probably null |
Het |
| Chd9 |
A |
T |
8: 91,683,335 (GRCm39) |
K592* |
probably null |
Het |
| Cyp2j8 |
T |
A |
4: 96,335,561 (GRCm39) |
H411L |
probably benign |
Het |
| Dhcr24 |
G |
T |
4: 106,443,148 (GRCm39) |
M394I |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,620,116 (GRCm39) |
V11A |
probably benign |
Het |
| Dync1li2 |
A |
T |
8: 105,164,123 (GRCm39) |
I134N |
probably damaging |
Het |
| Enpp4 |
G |
T |
17: 44,410,544 (GRCm39) |
S344Y |
probably damaging |
Het |
| Ephb3 |
T |
C |
16: 21,031,687 (GRCm39) |
S14P |
probably benign |
Het |
| Fancm |
T |
G |
12: 65,177,105 (GRCm39) |
I1983S |
probably damaging |
Het |
| Fndc1 |
T |
C |
17: 7,992,032 (GRCm39) |
T555A |
unknown |
Het |
| Gemin4 |
A |
T |
11: 76,101,815 (GRCm39) |
M982K |
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,479,518 (GRCm39) |
R590G |
probably benign |
Het |
| H2-M3 |
G |
A |
17: 37,582,054 (GRCm39) |
R170H |
probably benign |
Het |
| Hoxa13 |
G |
T |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
| Hspb3 |
A |
G |
13: 113,799,589 (GRCm39) |
V147A |
probably benign |
Het |
| Il6st |
G |
T |
13: 112,640,866 (GRCm39) |
D820Y |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,129,832 (GRCm39) |
V448A |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,283,387 (GRCm39) |
D991G |
probably damaging |
Het |
| Kri1 |
T |
C |
9: 21,193,507 (GRCm39) |
D140G |
possibly damaging |
Het |
| Limk2 |
A |
G |
11: 3,296,250 (GRCm39) |
L399P |
probably damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,506,794 (GRCm39) |
|
probably null |
Het |
| Map2 |
C |
T |
1: 66,454,245 (GRCm39) |
T1045M |
possibly damaging |
Het |
| Map4k5 |
T |
C |
12: 69,874,821 (GRCm39) |
I321V |
probably benign |
Het |
| Minar1 |
T |
A |
9: 89,484,413 (GRCm39) |
H328L |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh7b |
A |
G |
2: 155,462,445 (GRCm39) |
S383G |
probably benign |
Het |
| Nostrin |
A |
G |
2: 69,006,078 (GRCm39) |
K254R |
probably benign |
Het |
| Nphp1 |
G |
T |
2: 127,612,312 (GRCm39) |
P212T |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,586 (GRCm39) |
M228K |
possibly damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,812 (GRCm39) |
Y5* |
probably null |
Het |
| Pclo |
A |
C |
5: 14,730,017 (GRCm39) |
|
probably benign |
Het |
| Phf19 |
G |
A |
2: 34,801,631 (GRCm39) |
R60W |
probably damaging |
Het |
| Pou2af2 |
T |
C |
9: 51,201,702 (GRCm39) |
D118G |
probably damaging |
Het |
| Psg18 |
G |
A |
7: 18,084,824 (GRCm39) |
P91S |
probably benign |
Het |
| Rttn |
C |
T |
18: 89,027,460 (GRCm39) |
T525I |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,793,686 (GRCm39) |
M1268V |
probably benign |
Het |
| Slc25a2 |
T |
C |
18: 37,770,740 (GRCm39) |
E263G |
possibly damaging |
Het |
| Slc32a1 |
C |
T |
2: 158,455,810 (GRCm39) |
A155V |
possibly damaging |
Het |
| Slc6a19 |
A |
T |
13: 73,838,027 (GRCm39) |
|
probably null |
Het |
| Socs4 |
A |
G |
14: 47,527,034 (GRCm39) |
|
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,260 (GRCm39) |
I267T |
probably benign |
Het |
| Tpte |
G |
A |
8: 22,839,363 (GRCm39) |
C470Y |
probably damaging |
Het |
| Usp17la |
A |
T |
7: 104,510,118 (GRCm39) |
H241L |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,000 (GRCm39) |
I140F |
probably benign |
Het |
| Zfp329 |
T |
C |
7: 12,544,876 (GRCm39) |
D216G |
possibly 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 |
|
IGL03231:Nhsl3
|
APN |
4 |
129,117,474 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGGTTCGGAATCCCTGTGGAAG -3'
(R):5'- TGTTGCCTCCAAAGATGAGTCACC -3'
Sequencing Primer
(F):5'- TGTGCTTGCCCACTGAG -3'
(R):5'- AGATGAGTCACCCCCACC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation