Incidental Mutation 'R4334:Igsf9'
| ID |
500583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igsf9
|
| Ensembl Gene |
ENSMUSG00000037995 |
| Gene Name |
immunoglobulin superfamily, member 9 |
| Synonyms |
NRT1, Dasm1 |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
172309355-172326445 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 172321779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 149
(K149*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052629]
[ENSMUST00000111235]
[ENSMUST00000127052]
[ENSMUST00000127482]
[ENSMUST00000135267]
|
| AlphaFold |
Q05BQ1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000052629
AA Change: K454*
|
| SMART Domains |
Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: K454*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111235
AA Change: K454*
|
| SMART Domains |
Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: K454*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
FN3
|
508 |
593 |
1.82e-4 |
SMART |
|
FN3
|
624 |
705 |
7.01e-6 |
SMART |
|
transmembrane domain
|
737 |
759 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
low complexity region
|
909 |
930 |
N/A |
INTRINSIC |
|
low complexity region
|
942 |
953 |
N/A |
INTRINSIC |
|
low complexity region
|
1143 |
1165 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127052
|
| SMART Domains |
Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Blast:IG
|
26 |
109 |
6e-55 |
BLAST |
|
SCOP:d1biha2
|
28 |
108 |
6e-8 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000127482
AA Change: K454*
|
| SMART Domains |
Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: K454*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
IG
|
26 |
131 |
6.81e-6 |
SMART |
|
IGc2
|
149 |
213 |
4.92e-12 |
SMART |
|
IG
|
233 |
320 |
8.64e-8 |
SMART |
|
IG_like
|
329 |
412 |
4.3e1 |
SMART |
|
IGc2
|
431 |
493 |
9.12e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132141
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000193620
AA Change: K149*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140816
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135267
|
| SMART Domains |
Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
4 |
68 |
3.29e1 |
SMART |
|
IGc2
|
86 |
148 |
3.03e-12 |
SMART |
|
low complexity region
|
156 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155426
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141888
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile but show abnormal miniature inhibitory postsynaptic currents and increased susceptibility to pharmacologically induced seizures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
probably benign |
Het |
|
| Other mutations in Igsf9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00819:Igsf9
|
APN |
1 |
172,324,203 (GRCm39) |
missense |
probably benign |
|
|
IGL01665:Igsf9
|
APN |
1 |
172,319,738 (GRCm39) |
nonsense |
probably null |
|
|
IGL01808:Igsf9
|
APN |
1 |
172,312,370 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02480:Igsf9
|
APN |
1 |
172,312,345 (GRCm39) |
intron |
probably benign |
|
|
IGL02480:Igsf9
|
APN |
1 |
172,324,480 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03087:Igsf9
|
APN |
1 |
172,318,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
degree
|
UTSW |
1 |
172,319,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
G1citation:Igsf9
|
UTSW |
1 |
172,324,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1258:Igsf9
|
UTSW |
1 |
172,319,722 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1419:Igsf9
|
UTSW |
1 |
172,325,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2246:Igsf9
|
UTSW |
1 |
172,319,216 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2427:Igsf9
|
UTSW |
1 |
172,318,306 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3900:Igsf9
|
UTSW |
1 |
172,317,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Igsf9
|
UTSW |
1 |
172,319,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4844:Igsf9
|
UTSW |
1 |
172,324,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Igsf9
|
UTSW |
1 |
172,325,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5016:Igsf9
|
UTSW |
1 |
172,318,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5358:Igsf9
|
UTSW |
1 |
172,312,078 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5705:Igsf9
|
UTSW |
1 |
172,322,338 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5762:Igsf9
|
UTSW |
1 |
172,326,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6058:Igsf9
|
UTSW |
1 |
172,312,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6510:Igsf9
|
UTSW |
1 |
172,317,864 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6821:Igsf9
|
UTSW |
1 |
172,312,060 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6822:Igsf9
|
UTSW |
1 |
172,324,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6829:Igsf9
|
UTSW |
1 |
172,323,241 (GRCm39) |
missense |
probably benign |
|
|
R6848:Igsf9
|
UTSW |
1 |
172,323,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Igsf9
|
UTSW |
1 |
172,322,096 (GRCm39) |
missense |
probably benign |
|
|
R7224:Igsf9
|
UTSW |
1 |
172,322,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7284:Igsf9
|
UTSW |
1 |
172,324,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7292:Igsf9
|
UTSW |
1 |
172,319,324 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7409:Igsf9
|
UTSW |
1 |
172,322,841 (GRCm39) |
missense |
probably benign |
|
|
R7744:Igsf9
|
UTSW |
1 |
172,319,752 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7826:Igsf9
|
UTSW |
1 |
172,319,197 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7893:Igsf9
|
UTSW |
1 |
172,324,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8971:Igsf9
|
UTSW |
1 |
172,312,033 (GRCm39) |
start gained |
probably benign |
|
|
R9037:Igsf9
|
UTSW |
1 |
172,312,081 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9527:Igsf9
|
UTSW |
1 |
172,323,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V7732:Igsf9
|
UTSW |
1 |
172,317,960 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1176:Igsf9
|
UTSW |
1 |
172,322,793 (GRCm39) |
missense |
probably benign |
0.27 |
|
Z1176:Igsf9
|
UTSW |
1 |
172,319,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Igsf9
|
UTSW |
1 |
172,322,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACTAAGACATTATGACAGGCAC -3'
(R):5'- AGGCTGTTGTTGCTGTCCAC -3'
Sequencing Primer
(F):5'- CAGGCACCTGGGAATGG -3'
(R):5'- TGGTCAGCCCTGAAGACACAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation