Incidental Mutation 'R6898:Ntng1'
| ID |
538441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ntng1
|
| Ensembl Gene |
ENSMUSG00000059857 |
| Gene Name |
netrin G1 |
| Synonyms |
Lmnt1, A930010C08Rik |
| MMRRC Submission |
044992-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6898 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
109687356-110051327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109779534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 348
(K348E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119534
(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: K348E
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000072397
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 damaging
Transcript: ENSMUST00000106570
AA Change: K348E
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102180
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 |
possibly damaging
Transcript: ENSMUST00000106571
AA Change: K348E
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000102181
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 |
possibly damaging
Transcript: ENSMUST00000106575
AA Change: K348E
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102185
Gene: ENSMUSG00000059857
AA Change: K348E
| 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
|
| SMART Domains |
Protein: ENSMUSP00000116579
Gene: ENSMUSG00000059857
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
LamNT
|
59 |
295 |
1.5e-20 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131027
AA Change: K348E
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000118800
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 |
possibly damaging
Transcript: ENSMUST00000133268
AA Change: K348E
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000117371
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 damaging
Transcript: ENSMUST00000138344
AA Change: K348E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000120688
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 |
possibly damaging
Transcript: ENSMUST00000138953
AA Change: K348E
PolyPhen 2
Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116213
Gene: ENSMUSG00000059857
AA Change: K348E
| 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 damaging
Transcript: ENSMUST00000156177
AA Change: K348E
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119534
Gene: ENSMUSG00000059857
AA Change: K348E
| 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: 99.9%
- 10x: 99.2%
- 20x: 97.5%
|
| Validation Efficiency |
100% (46/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd7 |
G |
T |
6: 18,868,100 (GRCm39) |
|
probably null |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,975 (GRCm39) |
Y325F |
probably damaging |
Het |
| Aplnr |
A |
T |
2: 84,970,155 (GRCm39) |
|
probably benign |
Het |
| Capns2 |
T |
C |
8: 93,628,605 (GRCm39) |
S165P |
probably damaging |
Het |
| Col25a1 |
T |
C |
3: 130,378,377 (GRCm39) |
|
probably null |
Het |
| Crocc2 |
T |
C |
1: 93,143,304 (GRCm39) |
V1302A |
probably benign |
Het |
| Cul9 |
C |
A |
17: 46,821,952 (GRCm39) |
R1841M |
possibly damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,336,584 (GRCm39) |
L1213P |
probably damaging |
Het |
| Dscam |
A |
T |
16: 96,631,100 (GRCm39) |
I305K |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,376,193 (GRCm39) |
E1326G |
possibly damaging |
Het |
| Eif4a3l1 |
T |
A |
6: 136,305,617 (GRCm39) |
V26E |
probably benign |
Het |
| Emc9 |
A |
G |
14: 55,822,367 (GRCm39) |
|
probably null |
Het |
| Eppk1 |
A |
C |
15: 75,996,126 (GRCm39) |
S252A |
probably benign |
Het |
| Fn1 |
T |
A |
1: 71,639,572 (GRCm39) |
T1830S |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,179,485 (GRCm39) |
M2974K |
probably damaging |
Het |
| Gdpd3 |
C |
A |
7: 126,370,201 (GRCm39) |
S250* |
probably null |
Het |
| Gnl3 |
A |
T |
14: 30,735,136 (GRCm39) |
S485R |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hsd17b3 |
T |
C |
13: 64,207,339 (GRCm39) |
Y234C |
probably benign |
Het |
| Lima1 |
T |
C |
15: 99,679,148 (GRCm39) |
H271R |
possibly damaging |
Het |
| Nfu1 |
G |
A |
6: 86,994,034 (GRCm39) |
|
probably null |
Het |
| Noto |
A |
G |
6: 85,404,942 (GRCm39) |
E97G |
probably damaging |
Het |
| Or2y13 |
G |
A |
11: 49,414,536 (GRCm39) |
|
probably benign |
Het |
| Or4a70 |
C |
T |
2: 89,324,594 (GRCm39) |
G21R |
possibly damaging |
Het |
| Osmr |
C |
A |
15: 6,845,364 (GRCm39) |
V801F |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,824,234 (GRCm39) |
E554G |
probably benign |
Het |
| Pitrm1 |
T |
C |
13: 6,605,495 (GRCm39) |
L175P |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,053 (GRCm39) |
N214K |
probably damaging |
Het |
| Pramel7 |
T |
C |
2: 87,320,070 (GRCm39) |
T408A |
probably damaging |
Het |
| Serinc2 |
A |
T |
4: 130,149,235 (GRCm39) |
D322E |
probably benign |
Het |
| Setx |
T |
C |
2: 29,038,120 (GRCm39) |
V1535A |
probably benign |
Het |
| Sgce |
A |
T |
6: 4,689,666 (GRCm39) |
V389E |
probably damaging |
Het |
| Snx11 |
G |
A |
11: 96,659,888 (GRCm39) |
T267I |
probably benign |
Het |
| Spata6l |
T |
G |
19: 28,921,688 (GRCm39) |
Q146P |
probably benign |
Het |
| Specc1 |
G |
A |
11: 62,009,162 (GRCm39) |
S306N |
probably benign |
Het |
| Spocd1 |
A |
G |
4: 129,850,305 (GRCm39) |
|
probably benign |
Het |
| St7 |
T |
A |
6: 17,854,945 (GRCm39) |
V294D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,880,920 (GRCm39) |
R624Q |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,403 (GRCm39) |
I134V |
probably benign |
Het |
| Tgfb2 |
T |
A |
1: 186,364,697 (GRCm39) |
I266F |
probably damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,300,365 (GRCm39) |
I209M |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,387,034 (GRCm39) |
|
probably null |
Het |
| Toe1 |
A |
G |
4: 116,664,671 (GRCm39) |
S16P |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,279,601 (GRCm39) |
V38A |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,224,557 (GRCm39) |
D1001E |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAACTGCAAGTGGAACCCAG -3'
(R):5'- TGTAGCTAGACTGCTAAGACGAAC -3'
Sequencing Primer
(F):5'- CCCAGAAAGAGAGAGCTCAGC -3'
(R):5'- CTAGACTGCTAAGACGAACTTGACTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation