Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03087:Igsf9'

418167

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igsf9

Ensembl Gene

ENSMUSG00000037995

Gene Name

immunoglobulin superfamily, member 9

Synonyms

NRT1, Dasm1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

172481788-172498878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172490743 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 150 (I150T)

Ref Sequence

ENSEMBL: ENSMUSP00000116948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052629] [ENSMUST00000111235] [ENSMUST00000127052] [ENSMUST00000127482] [ENSMUST00000135267]

Predicted Effect

probably benign
Transcript: ENSMUST00000052629
AA Change: I215T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: I215T

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 benign
Transcript: ENSMUST00000111235
AA Change: I215T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: I215T

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 benign
Transcript: ENSMUST00000127482
AA Change: I215T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: I215T

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 benign
Transcript: ENSMUST00000135267
AA Change: I150T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
AA Change: I150T

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: ENSMUST00000140814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155426

Predicted Effect

probably benign
Transcript: ENSMUST00000193620

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 24,997,632		probably benign	Het
Acbd5	A	G	2: 23,089,710	T261A	probably benign	Het
Ap1g2	G	A	14: 55,103,036	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,174,804	T150A	probably benign	Het
Arid4a	G	T	12: 71,075,245	R478L	possibly damaging	Het
Bard1	T	C	1: 71,067,130	D446G	probably damaging	Het
Baz2a	T	C	10: 128,122,313	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,974,642	L279P	possibly damaging	Het
Bphl	A	T	13: 34,073,711	H275L	probably damaging	Het
Ces1c	T	C	8: 93,118,414	I120V	probably benign	Het
Csmd3	T	A	15: 47,977,033	Y946F	probably damaging	Het
Dnah8	G	A	17: 30,784,144	V3606I	probably benign	Het
Eef2	A	G	10: 81,181,247	N696S	probably benign	Het
Eno4	A	G	19: 58,962,816	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,655,881		probably benign	Het
Fbxo25	T	C	8: 13,924,019		probably null	Het
Glt8d1	T	A	14: 31,010,096	F155I	probably damaging	Het
Golim4	A	T	3: 75,878,673	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,037,601	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,563,004	*333L	probably null	Het
Ift88	T	C	14: 57,477,957	S486P	probably benign	Het
Jag2	G	A	12: 112,913,948	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,455,747	I280N	probably benign	Het
Kif18a	A	G	2: 109,318,117		probably benign	Het
Lct	A	G	1: 128,300,375	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,225,551		probably null	Het
Lyst	T	A	13: 13,635,056	I437N	probably damaging	Het
Map3k1	A	G	13: 111,749,025	S1453P	probably benign	Het
Mcmdc2	A	G	1: 9,930,945	M482V	possibly damaging	Het
Mical1	T	C	10: 41,482,690	S535P	probably damaging	Het
Myh3	T	C	11: 67,090,972	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,808,517	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,655,799		probably benign	Het
Neurod6	A	T	6: 55,678,775	C292*	probably null	Het
Olfr1106	A	T	2: 87,049,012	S75T	possibly damaging	Het
Olfr1255	A	G	2: 89,816,671	E109G	probably damaging	Het
Olfr530	T	A	7: 140,373,092	I173F	probably damaging	Het
Olfr809	A	T	10: 129,776,261	M116L	probably damaging	Het
Olfr828	T	C	9: 18,816,084	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,145,682	N572D	probably damaging	Het
Pfpl	A	G	19: 12,428,877	N164S	probably benign	Het
Pi4kb	A	G	3: 94,984,764	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,731,612	F10I	probably benign	Het
Rag2	G	A	2: 101,630,214	V290I	probably benign	Het
Rhot2	G	A	17: 25,841,141		probably benign	Het
Rps6kc1	T	C	1: 190,871,711	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,652,968	A495D	possibly damaging	Het
Sept4	T	A	11: 87,585,245		probably benign	Het
Serpina5	G	T	12: 104,101,733	A18S	probably benign	Het
Slc25a11	T	C	11: 70,645,207	T234A	probably benign	Het
Slc44a2	C	T	9: 21,346,765	T435I	probably benign	Het
Tekt2	T	A	4: 126,324,867	Q31L	possibly damaging	Het
Tfpi	A	G	2: 84,444,045	V199A	possibly damaging	Het
Trap1	G	T	16: 4,044,701		probably null	Het
Trmt1	A	G	8: 84,695,233	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,450,357	R3184*	probably null	Het
Uroc1	G	T	6: 90,363,103		probably benign	Het
Vmn1r19	A	G	6: 57,404,491	I10V	probably benign	Het
Zfhx2	G	A	14: 55,072,845	A748V	possibly damaging	Het

Other mutations in Igsf9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Igsf9	APN	1	172496636	missense	probably benign
IGL01665:Igsf9	APN	1	172492171	nonsense	probably null
IGL01808:Igsf9	APN	1	172484803	missense	probably benign	0.03
IGL02480:Igsf9	APN	1	172496913	missense	possibly damaging	0.88
IGL02480:Igsf9	APN	1	172484778	intron	probably benign
R1258:Igsf9	UTSW	1	172492155	missense	probably benign	0.02
R1419:Igsf9	UTSW	1	172498011	missense	probably damaging	1.00
R2246:Igsf9	UTSW	1	172491649	missense	probably benign	0.21
R2427:Igsf9	UTSW	1	172490739	missense	probably damaging	0.98
R3900:Igsf9	UTSW	1	172489558	missense	probably damaging	1.00
R4334:Igsf9	UTSW	1	172494212	nonsense	probably null
R4831:Igsf9	UTSW	1	172491888	missense	probably damaging	1.00
R4844:Igsf9	UTSW	1	172497170	missense	probably benign	0.00
R4894:Igsf9	UTSW	1	172498067	missense	probably benign	0.00
R5016:Igsf9	UTSW	1	172490712	missense	probably damaging	1.00
R5358:Igsf9	UTSW	1	172484511	missense	probably benign	0.01
R5705:Igsf9	UTSW	1	172494771	missense	possibly damaging	0.80
R5762:Igsf9	UTSW	1	172498438	missense	probably damaging	1.00
R6058:Igsf9	UTSW	1	172484889	missense	probably damaging	1.00
R6510:Igsf9	UTSW	1	172490297	missense	possibly damaging	0.78
R6821:Igsf9	UTSW	1	172484493	missense	probably benign	0.39
R6822:Igsf9	UTSW	1	172497163	missense	possibly damaging	0.95
R6829:Igsf9	UTSW	1	172495674	missense	probably benign
R6848:Igsf9	UTSW	1	172495762	missense	probably damaging	1.00
R6874:Igsf9	UTSW	1	172494529	missense	probably benign
R7224:Igsf9	UTSW	1	172494782	missense	probably damaging	1.00
R7284:Igsf9	UTSW	1	172496912	missense	probably damaging	0.99
R7292:Igsf9	UTSW	1	172491757	critical splice donor site	probably null
R7409:Igsf9	UTSW	1	172495274	missense	probably benign
R7744:Igsf9	UTSW	1	172492185	missense	probably benign	0.37
R7826:Igsf9	UTSW	1	172491630	missense	probably benign	0.01
R7893:Igsf9	UTSW	1	172497302	missense	probably damaging	1.00
V7732:Igsf9	UTSW	1	172490393	missense	probably benign	0.19
Z1176:Igsf9	UTSW	1	172492149	missense	probably damaging	0.99
Z1176:Igsf9	UTSW	1	172495226	missense	probably benign	0.27
Z1177:Igsf9	UTSW	1	172494872	missense	probably damaging	1.00

Posted On

2016-08-02