Incidental Mutation 'IGL02578:Ntng1'
| ID |
299264 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ntng1
|
| Ensembl Gene |
ENSMUSG00000059857 |
| Gene Name |
netrin G1 |
| Synonyms |
Lmnt1, A930010C08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
109687356-110051327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 110042710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 39
(T39S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072596]
[ENSMUST00000106570]
[ENSMUST00000106571]
[ENSMUST00000106575]
[ENSMUST00000128219]
[ENSMUST00000131027]
[ENSMUST00000133268]
[ENSMUST00000138953]
[ENSMUST00000156177]
[ENSMUST00000138344]
|
| AlphaFold |
Q8R4G0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072596
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF_Lam
|
364 |
417 |
4.81e-8 |
SMART |
|
EGF_Lam
|
420 |
462 |
5.74e-6 |
SMART |
|
EGF
|
466 |
498 |
5.12e-3 |
SMART |
|
low complexity region
|
522 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106570
AA Change: T39S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
355 |
1.28e-3 |
SMART |
|
EGF
|
388 |
420 |
5.12e-3 |
SMART |
|
low complexity region
|
444 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106571
AA Change: T39S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF
|
408 |
440 |
5.12e-3 |
SMART |
|
low complexity region
|
464 |
479 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106575
AA Change: T39S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
355 |
3.33e-2 |
SMART |
|
EGF_Lam
|
364 |
417 |
4.81e-8 |
SMART |
|
EGF_Lam
|
420 |
462 |
5.74e-6 |
SMART |
|
EGF
|
466 |
498 |
5.12e-3 |
SMART |
|
low complexity region
|
522 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128219
AA Change: T39S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LamNT
|
59 |
295 |
1.5e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131027
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF_Lam
|
364 |
417 |
4.81e-8 |
SMART |
|
EGF
|
421 |
453 |
5.12e-3 |
SMART |
|
low complexity region
|
477 |
492 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133268
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF
|
365 |
397 |
5.12e-3 |
SMART |
|
low complexity region
|
421 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138953
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF
|
407 |
439 |
5.12e-3 |
SMART |
|
low complexity region
|
463 |
478 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156177
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF
|
387 |
419 |
5.12e-3 |
SMART |
|
low complexity region
|
443 |
458 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138344
AA Change: T39S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: T39S
| Domain | Start | End | E-Value | Type |
|---|
|
LamNT
|
59 |
295 |
3.22e-18 |
SMART |
|
EGF_Lam
|
297 |
354 |
6.86e-4 |
SMART |
|
EGF_Lam
|
364 |
406 |
5.74e-6 |
SMART |
|
EGF
|
410 |
442 |
5.12e-3 |
SMART |
|
low complexity region
|
466 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189335
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a preproprotein that is processed into a secreted protein containing eukaroytic growth factor (EGF)-like domains. This protein acts to guide axon growth during neuronal development. Polymorphisms in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a null allele survive into adulthood with no major alterations in gross brain cytoarchitecture or axonal projection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,023,179 (GRCm39) |
|
probably null |
Het |
| Ago1 |
T |
A |
4: 126,333,324 (GRCm39) |
D545V |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,270,116 (GRCm39) |
S1410P |
probably benign |
Het |
| Cbfa2t3 |
T |
A |
8: 123,360,187 (GRCm39) |
D488V |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,240,094 (GRCm39) |
D194G |
probably damaging |
Het |
| Cyp4a32 |
A |
G |
4: 115,466,939 (GRCm39) |
Q208R |
possibly damaging |
Het |
| Degs1 |
A |
C |
1: 182,106,592 (GRCm39) |
Y222* |
probably null |
Het |
| Dnah7a |
T |
A |
1: 53,472,074 (GRCm39) |
E3564D |
probably benign |
Het |
| Dsg4 |
A |
T |
18: 20,604,250 (GRCm39) |
I906F |
possibly damaging |
Het |
| Elovl3 |
A |
G |
19: 46,123,132 (GRCm39) |
H236R |
possibly damaging |
Het |
| Foxp2 |
A |
G |
6: 15,376,814 (GRCm39) |
|
probably benign |
Het |
| Gm9892 |
A |
T |
8: 52,649,328 (GRCm39) |
|
noncoding transcript |
Het |
| Herc2 |
A |
G |
7: 55,756,283 (GRCm39) |
|
probably null |
Het |
| Hhat |
A |
G |
1: 192,376,221 (GRCm39) |
V304A |
probably damaging |
Het |
| Il16 |
C |
T |
7: 83,327,194 (GRCm39) |
|
probably null |
Het |
| Kansl1l |
G |
A |
1: 66,840,848 (GRCm39) |
Q151* |
probably null |
Het |
| Kmt2c |
G |
T |
5: 25,571,198 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,412,032 (GRCm39) |
N18S |
probably benign |
Het |
| Lcor |
G |
T |
19: 41,547,589 (GRCm39) |
G391V |
probably damaging |
Het |
| Mical2 |
A |
T |
7: 111,950,580 (GRCm39) |
T845S |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,911,667 (GRCm39) |
A230V |
probably benign |
Het |
| Myh2 |
T |
A |
11: 67,077,517 (GRCm39) |
M884K |
probably benign |
Het |
| Nlrp3 |
T |
C |
11: 59,439,227 (GRCm39) |
L268P |
probably damaging |
Het |
| Or10ag58 |
T |
A |
2: 87,265,401 (GRCm39) |
I190K |
probably damaging |
Het |
| Or1j14 |
A |
C |
2: 36,418,156 (GRCm39) |
H244P |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,993,073 (GRCm39) |
Y73* |
probably null |
Het |
| Pde4b |
T |
A |
4: 102,112,494 (GRCm39) |
M26K |
possibly damaging |
Het |
| Polh |
G |
A |
17: 46,505,218 (GRCm39) |
Q133* |
probably null |
Het |
| Postn |
A |
T |
3: 54,284,625 (GRCm39) |
N647I |
possibly damaging |
Het |
| Scimp |
T |
A |
11: 70,682,387 (GRCm39) |
I110F |
possibly damaging |
Het |
| Sell |
A |
G |
1: 163,893,165 (GRCm39) |
D127G |
probably damaging |
Het |
| Serpinb12 |
G |
A |
1: 106,883,220 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,739,373 (GRCm39) |
E188G |
probably damaging |
Het |
| Shisal2a |
C |
T |
4: 108,225,225 (GRCm39) |
M112I |
probably benign |
Het |
| Slc22a1 |
T |
C |
17: 12,886,126 (GRCm39) |
Y169C |
probably damaging |
Het |
| Slco2a1 |
C |
T |
9: 102,923,957 (GRCm39) |
T57I |
probably damaging |
Het |
| Sox2 |
A |
T |
3: 34,704,745 (GRCm39) |
M61L |
probably benign |
Het |
| Sra1 |
G |
A |
18: 36,803,150 (GRCm39) |
Q32* |
probably null |
Het |
| Syne2 |
T |
A |
12: 76,069,053 (GRCm39) |
S4340T |
possibly damaging |
Het |
| Ucn |
A |
C |
5: 31,295,738 (GRCm39) |
W43G |
possibly damaging |
Het |
| Xdh |
C |
T |
17: 74,213,241 (GRCm39) |
M836I |
probably damaging |
Het |
| Xirp2 |
T |
A |
2: 67,341,591 (GRCm39) |
D1277E |
probably damaging |
Het |
|
| Other mutations in Ntng1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02162:Ntng1
|
APN |
3 |
109,842,311 (GRCm39) |
nonsense |
probably null |
|
|
IGL02367:Ntng1
|
APN |
3 |
110,042,829 (GRCm39) |
splice site |
probably null |
|
|
IGL02448:Ntng1
|
APN |
3 |
109,841,875 (GRCm39) |
splice site |
probably benign |
|
|
IGL02487:Ntng1
|
APN |
3 |
109,842,363 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02500:Ntng1
|
APN |
3 |
110,042,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Ntng1
|
APN |
3 |
109,842,018 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03096:Ntng1
|
APN |
3 |
110,042,665 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0108:Ntng1
|
UTSW |
3 |
109,759,071 (GRCm39) |
splice site |
probably benign |
|
|
R0326:Ntng1
|
UTSW |
3 |
110,042,819 (GRCm39) |
nonsense |
probably null |
|
|
R0403:Ntng1
|
UTSW |
3 |
109,841,927 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0699:Ntng1
|
UTSW |
3 |
109,779,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Ntng1
|
UTSW |
3 |
109,779,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Ntng1
|
UTSW |
3 |
109,842,326 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2096:Ntng1
|
UTSW |
3 |
109,739,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3739:Ntng1
|
UTSW |
3 |
109,842,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3963:Ntng1
|
UTSW |
3 |
109,842,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4484:Ntng1
|
UTSW |
3 |
110,051,124 (GRCm39) |
unclassified |
probably benign |
|
|
R4516:Ntng1
|
UTSW |
3 |
109,842,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Ntng1
|
UTSW |
3 |
109,842,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Ntng1
|
UTSW |
3 |
109,842,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4523:Ntng1
|
UTSW |
3 |
109,842,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Ntng1
|
UTSW |
3 |
109,842,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4776:Ntng1
|
UTSW |
3 |
109,842,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4817:Ntng1
|
UTSW |
3 |
109,842,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Ntng1
|
UTSW |
3 |
110,042,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4990:Ntng1
|
UTSW |
3 |
110,042,577 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5067:Ntng1
|
UTSW |
3 |
110,042,661 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5087:Ntng1
|
UTSW |
3 |
110,042,645 (GRCm39) |
nonsense |
probably null |
|
|
R5196:Ntng1
|
UTSW |
3 |
109,842,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5263:Ntng1
|
UTSW |
3 |
109,842,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5743:Ntng1
|
UTSW |
3 |
110,042,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6268:Ntng1
|
UTSW |
3 |
109,842,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6292:Ntng1
|
UTSW |
3 |
110,051,202 (GRCm39) |
unclassified |
probably benign |
|
|
R6419:Ntng1
|
UTSW |
3 |
109,690,169 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6898:Ntng1
|
UTSW |
3 |
109,779,534 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7081:Ntng1
|
UTSW |
3 |
109,759,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7090:Ntng1
|
UTSW |
3 |
109,842,496 (GRCm39) |
nonsense |
probably null |
|
|
R7134:Ntng1
|
UTSW |
3 |
109,842,445 (GRCm39) |
missense |
probably benign |
|
|
R7302:Ntng1
|
UTSW |
3 |
109,739,933 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7353:Ntng1
|
UTSW |
3 |
110,042,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7408:Ntng1
|
UTSW |
3 |
109,760,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7610:Ntng1
|
UTSW |
3 |
109,842,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Ntng1
|
UTSW |
3 |
109,842,330 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7972:Ntng1
|
UTSW |
3 |
110,042,802 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9210:Ntng1
|
UTSW |
3 |
109,779,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9214:Ntng1
|
UTSW |
3 |
109,841,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Ntng1
|
UTSW |
3 |
110,051,162 (GRCm39) |
missense |
unknown |
|
|
R9266:Ntng1
|
UTSW |
3 |
110,050,923 (GRCm39) |
unclassified |
probably benign |
|
|
R9364:Ntng1
|
UTSW |
3 |
110,042,680 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9593:Ntng1
|
UTSW |
3 |
109,842,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Ntng1
|
UTSW |
3 |
110,042,956 (GRCm39) |
start gained |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation