Incidental Mutation 'R3077:Nhsl2'
| ID |
265271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nhsl2
|
| Ensembl Gene |
ENSMUSG00000079481 |
| Gene Name |
NHS like 2 |
| Synonyms |
1110062M06Rik, Gm10456 |
| MMRRC Submission |
040567-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.043)
|
| Stock # |
R3077 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
100892991-101135661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101121201 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 62
(R62W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101339]
[ENSMUST00000124279]
[ENSMUST00000144753]
|
| AlphaFold |
B1AXH1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101339
AA Change: R335W
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098893
Gene: ENSMUSG00000079481
AA Change: R335W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
155 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
494 |
613 |
3.8e-11 |
PFAM |
|
Pfam:NHS
|
607 |
771 |
1.5e-25 |
PFAM |
|
low complexity region
|
827 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
935 |
952 |
N/A |
INTRINSIC |
|
low complexity region
|
989 |
1002 |
N/A |
INTRINSIC |
|
low complexity region
|
1145 |
1160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124279
|
| SMART Domains |
Protein: ENSMUSP00000116112
Gene: ENSMUSG00000079481
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129185
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144753
AA Change: R62W
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155477
|
| Meta Mutation Damage Score |
0.1125 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,764 (GRCm39) |
I1981V |
probably benign |
Het |
| Adgrd1 |
A |
T |
5: 129,206,169 (GRCm39) |
I248F |
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,278 (GRCm39) |
I1446V |
probably damaging |
Het |
| Cabcoco1 |
T |
G |
10: 68,361,475 (GRCm39) |
Y8S |
possibly damaging |
Het |
| Champ1 |
T |
C |
8: 13,928,832 (GRCm39) |
V330A |
probably benign |
Het |
| Dnajc8 |
A |
G |
4: 132,271,974 (GRCm39) |
D70G |
probably damaging |
Het |
| Kif14 |
T |
G |
1: 136,447,383 (GRCm39) |
I1396S |
possibly damaging |
Het |
| Mnt |
G |
C |
11: 74,733,936 (GRCm39) |
|
probably benign |
Het |
| Or1e29 |
G |
A |
11: 73,667,466 (GRCm39) |
P229L |
possibly damaging |
Het |
| Or51a7 |
G |
T |
7: 102,615,223 (GRCm39) |
K305N |
probably benign |
Het |
| Pcdhb11 |
C |
T |
18: 37,555,297 (GRCm39) |
T209I |
probably benign |
Het |
| Pdzd8 |
A |
G |
19: 59,293,588 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
A |
G |
4: 132,125,307 (GRCm39) |
M1T |
probably null |
Het |
| Pwwp2a |
A |
G |
11: 43,596,212 (GRCm39) |
N184S |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,046,157 (GRCm39) |
V958A |
probably damaging |
Het |
| Smc3 |
A |
G |
19: 53,616,322 (GRCm39) |
E449G |
probably benign |
Het |
| Snap91 |
T |
A |
9: 86,720,907 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,508 (GRCm39) |
R199G |
possibly damaging |
Het |
| Unc45a |
A |
C |
7: 79,988,680 (GRCm39) |
V112G |
probably damaging |
Het |
| Vwa8 |
A |
T |
14: 79,335,782 (GRCm39) |
N1413Y |
probably benign |
Het |
| Zcchc9 |
A |
T |
13: 91,954,101 (GRCm39) |
N51K |
probably benign |
Het |
| Zfp628 |
A |
G |
7: 4,924,199 (GRCm39) |
E807G |
possibly damaging |
Het |
| Zfp647 |
A |
T |
15: 76,802,209 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Nhsl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02023:Nhsl2
|
APN |
X |
101,121,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Nhsl2
|
APN |
X |
101,122,849 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03038:Nhsl2
|
APN |
X |
101,122,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03120:Nhsl2
|
APN |
X |
101,114,939 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03144:Nhsl2
|
APN |
X |
101,123,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3076:Nhsl2
|
UTSW |
X |
101,121,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3078:Nhsl2
|
UTSW |
X |
101,121,201 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGCTGTTGGCAAGTGGTG -3'
(R):5'- AAAGCATCTCCCTTCCAGGAAG -3'
Sequencing Primer
(F):5'- GTTCTTGTCACAAAGCAGCTG -3'
(R):5'- CAGGAAGTGGAGAATGTTGACTCTG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation