Incidental Mutation 'R7081:Ntng1'
ID |
549504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ntng1
|
Ensembl Gene |
ENSMUSG00000059857 |
Gene Name |
netrin G1 |
Synonyms |
Lmnt1, A930010C08Rik |
MMRRC Submission |
045175-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7081 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
109687356-110051327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 109759105 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 355
(I355F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072397
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072596]
[ENSMUST00000106570]
[ENSMUST00000106571]
[ENSMUST00000106575]
[ENSMUST00000128219]
[ENSMUST00000131027]
[ENSMUST00000133268]
[ENSMUST00000138344]
[ENSMUST00000138953]
[ENSMUST00000156177]
|
AlphaFold |
Q8R4G0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000072596
AA Change: I355F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000072397 Gene: ENSMUSG00000059857 AA Change: I355F
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
|
SMART Domains |
Protein: ENSMUSP00000102180 Gene: ENSMUSG00000059857
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
|
SMART Domains |
Protein: ENSMUSP00000102181 Gene: ENSMUSG00000059857
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
|
SMART Domains |
Protein: ENSMUSP00000102185 Gene: ENSMUSG00000059857
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 |
unknown
Transcript: ENSMUST00000128219
AA Change: Y297F
|
SMART Domains |
Protein: ENSMUSP00000116579 Gene: ENSMUSG00000059857 AA Change: Y297F
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: I355F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000118800 Gene: ENSMUSG00000059857 AA Change: I355F
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: I355F
PolyPhen 2
Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000117371 Gene: ENSMUSG00000059857 AA Change: I355F
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: ENSMUST00000138344
AA Change: I355F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120688 Gene: ENSMUSG00000059857 AA Change: I355F
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 |
probably benign
Transcript: ENSMUST00000138953
AA Change: I355F
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000116213 Gene: ENSMUSG00000059857 AA Change: I355F
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: I355F
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119534 Gene: ENSMUSG00000059857 AA Change: I355F
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
T |
A |
11: 84,361,951 (GRCm39) |
H337L |
possibly damaging |
Het |
Abcb4 |
T |
A |
5: 8,984,263 (GRCm39) |
N664K |
probably benign |
Het |
Adh7 |
A |
G |
3: 137,934,606 (GRCm39) |
D343G |
probably benign |
Het |
Als2cl |
G |
A |
9: 110,723,650 (GRCm39) |
R682Q |
possibly damaging |
Het |
Angptl6 |
A |
C |
9: 20,786,644 (GRCm39) |
I334R |
probably damaging |
Het |
Ankrd45 |
A |
G |
1: 160,978,863 (GRCm39) |
N101D |
probably benign |
Het |
Arhgef10 |
C |
T |
8: 15,047,547 (GRCm39) |
Q1137* |
probably null |
Het |
Asap3 |
T |
A |
4: 135,968,881 (GRCm39) |
|
probably null |
Het |
Bmp2k |
T |
C |
5: 97,212,820 (GRCm39) |
S568P |
unknown |
Het |
C4b |
A |
C |
17: 34,954,417 (GRCm39) |
F917L |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,576,129 (GRCm39) |
V168E |
possibly damaging |
Het |
Ccdc60 |
T |
A |
5: 116,264,146 (GRCm39) |
I543F |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,702 (GRCm39) |
D133G |
probably damaging |
Het |
Chd4 |
T |
C |
6: 125,106,948 (GRCm39) |
V1911A |
unknown |
Het |
Cplx4 |
A |
T |
18: 66,100,538 (GRCm39) |
|
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,272 (GRCm39) |
D415E |
possibly damaging |
Het |
Cyp3a57 |
T |
C |
5: 145,318,183 (GRCm39) |
I388T |
probably damaging |
Het |
Dnajc5b |
T |
C |
3: 19,601,025 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
T |
12: 40,671,285 (GRCm39) |
I35F |
probably damaging |
Het |
Efna4 |
A |
T |
3: 89,241,601 (GRCm39) |
L206Q |
unknown |
Het |
Eif2a |
T |
C |
3: 58,449,139 (GRCm39) |
|
probably null |
Het |
Fam120a |
A |
G |
13: 49,063,801 (GRCm39) |
F612L |
probably damaging |
Het |
Fbxw21 |
A |
G |
9: 108,990,990 (GRCm39) |
L23P |
probably damaging |
Het |
Fcamr |
A |
T |
1: 130,740,949 (GRCm39) |
E456V |
probably damaging |
Het |
Fkbp8 |
G |
A |
8: 70,983,644 (GRCm39) |
R106H |
probably benign |
Het |
Galr2 |
T |
A |
11: 116,173,874 (GRCm39) |
L168Q |
probably damaging |
Het |
Gm11111 |
C |
T |
5: 98,701,399 (GRCm39) |
S22L |
unknown |
Het |
Gnpat |
T |
C |
8: 125,590,008 (GRCm39) |
F11S |
possibly damaging |
Het |
H2-T24 |
A |
T |
17: 36,328,344 (GRCm39) |
D46E |
probably damaging |
Het |
Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
Ifna12 |
T |
C |
4: 88,521,440 (GRCm39) |
R36G |
probably damaging |
Het |
Kcnma1 |
G |
A |
14: 23,350,086 (GRCm39) |
P1151L |
probably damaging |
Het |
Kif5c |
T |
A |
2: 49,631,373 (GRCm39) |
D683E |
probably benign |
Het |
Krit1 |
T |
C |
5: 3,873,651 (GRCm39) |
Y477H |
possibly damaging |
Het |
Lipm |
T |
A |
19: 34,098,723 (GRCm39) |
V399D |
possibly damaging |
Het |
Lrguk |
A |
T |
6: 34,079,074 (GRCm39) |
T770S |
probably benign |
Het |
Lrrc37a |
T |
C |
11: 103,348,781 (GRCm39) |
N2638S |
unknown |
Het |
Lrrc40 |
T |
C |
3: 157,742,442 (GRCm39) |
V27A |
probably damaging |
Het |
Map4k1 |
T |
C |
7: 28,690,574 (GRCm39) |
V355A |
probably benign |
Het |
Mylk3 |
T |
C |
8: 86,091,422 (GRCm39) |
I128V |
probably benign |
Het |
Myo1c |
A |
G |
11: 75,551,789 (GRCm39) |
D289G |
probably benign |
Het |
Mypn |
A |
G |
10: 62,970,737 (GRCm39) |
F889S |
probably damaging |
Het |
Ndufv3 |
C |
T |
17: 31,746,407 (GRCm39) |
P99L |
possibly damaging |
Het |
Nlrp10 |
A |
C |
7: 108,523,855 (GRCm39) |
S542A |
probably benign |
Het |
Noc2l |
T |
A |
4: 156,331,477 (GRCm39) |
D718E |
possibly damaging |
Het |
Nup210 |
A |
G |
6: 91,037,647 (GRCm39) |
V742A |
possibly damaging |
Het |
Nup50l |
A |
G |
6: 96,142,798 (GRCm39) |
V82A |
possibly damaging |
Het |
Olig2 |
T |
A |
16: 91,023,307 (GRCm39) |
L7Q |
probably damaging |
Het |
Or51f23b |
A |
T |
7: 102,402,395 (GRCm39) |
I247N |
probably benign |
Het |
Or8u10 |
A |
T |
2: 85,915,939 (GRCm39) |
F61I |
probably damaging |
Het |
Parpbp |
A |
T |
10: 87,929,517 (GRCm39) |
W444R |
probably damaging |
Het |
Plekhg3 |
A |
G |
12: 76,625,019 (GRCm39) |
E1287G |
probably benign |
Het |
Pramel16 |
T |
C |
4: 143,675,848 (GRCm39) |
D326G |
probably damaging |
Het |
Pramel56 |
T |
A |
5: 95,022,641 (GRCm39) |
N107K |
possibly damaging |
Het |
Prrc2b |
A |
T |
2: 32,103,075 (GRCm39) |
Q851L |
probably benign |
Het |
Psg21 |
C |
T |
7: 18,388,774 (GRCm39) |
W106* |
probably null |
Het |
Rab18 |
T |
G |
18: 6,778,529 (GRCm39) |
D53E |
probably benign |
Het |
Rbm19 |
T |
A |
5: 120,261,216 (GRCm39) |
|
probably null |
Het |
Rhobtb1 |
T |
C |
10: 69,102,127 (GRCm39) |
V136A |
probably benign |
Het |
Rsph4a |
G |
A |
10: 33,785,189 (GRCm39) |
V367I |
probably damaging |
Het |
Sec24b |
T |
C |
3: 129,781,391 (GRCm39) |
N1161S |
probably benign |
Het |
Sgcd |
C |
A |
11: 47,016,428 (GRCm39) |
G145* |
probably null |
Het |
Sin3a |
A |
G |
9: 57,001,755 (GRCm39) |
K134R |
probably null |
Het |
Slc9b2 |
A |
G |
3: 135,027,698 (GRCm39) |
E108G |
probably benign |
Het |
Stk24 |
A |
T |
14: 121,531,706 (GRCm39) |
S317T |
probably benign |
Het |
Stra8 |
T |
A |
6: 34,911,302 (GRCm39) |
|
probably null |
Het |
Tmem131 |
A |
G |
1: 36,928,376 (GRCm39) |
V71A |
possibly damaging |
Het |
Tmem87a |
T |
C |
2: 120,211,264 (GRCm39) |
D227G |
possibly damaging |
Het |
Vnn1 |
T |
A |
10: 23,770,903 (GRCm39) |
L44M |
possibly damaging |
Het |
Wdr20 |
G |
A |
12: 110,769,884 (GRCm39) |
V160I |
possibly damaging |
Het |
Zfand4 |
T |
A |
6: 116,292,581 (GRCm39) |
N667K |
possibly damaging |
Het |
Zfp1005 |
A |
G |
2: 150,110,189 (GRCm39) |
H293R |
possibly damaging |
Het |
Zfp609 |
A |
G |
9: 65,609,723 (GRCm39) |
V1080A |
possibly damaging |
Het |
Zhx1 |
C |
T |
15: 57,917,734 (GRCm39) |
V171I |
probably benign |
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 |
IGL02578:Ntng1
|
APN |
3 |
110,042,710 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGAGGTGCACAAGTCACC -3'
(R):5'- ACGTGCAAATGGTTCCAGC -3'
Sequencing Primer
(F):5'- GAGGTGCACAAGTCACCATTTTATG -3'
(R):5'- GCAAATGGTTCCAGCACTTG -3'
|
Posted On |
2019-05-15 |