Mutagenetix > Incidental Mutation

Incidental Mutation 'R1419:Igsf9'

159973

Institutional Source

Beutler Lab

Gene Symbol

Igsf9

Ensembl Gene

ENSMUSG00000037995

Gene Name

immunoglobulin superfamily, member 9

Synonyms

NRT1, Dasm1

MMRRC Submission

039475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

172481788-172498878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 172498011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 1082 (V1082E)

Ref Sequence

ENSEMBL: ENSMUSP00000106866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052629] [ENSMUST00000111228] [ENSMUST00000111230] [ENSMUST00000111235] [ENSMUST00000127482] [ENSMUST00000192460]

AlphaFold

Q05BQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052629
AA Change: V1082E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: V1082E

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: ENSMUST00000111228

SMART Domains

Protein: ENSMUSP00000106859
Gene: ENSMUSG00000026547

Domain	Start	End	E-Value	Type
CH	26	132	2.84e-24	SMART
Pfam:Calponin	174	198	7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111230

SMART Domains

Protein: ENSMUSP00000106861
Gene: ENSMUSG00000026547

Domain	Start	End	E-Value	Type
CH	26	132	2.84e-24	SMART
Pfam:Calponin	174	199	1.6e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111235
AA Change: V1082E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: V1082E

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: ENSMUST00000127482

SMART Domains

Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995

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: ENSMUST00000138296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155426

Predicted Effect

probably benign
Transcript: ENSMUST00000192460

SMART Domains

Protein: ENSMUSP00000141983
Gene: ENSMUSG00000026547

Domain	Start	End	E-Value	Type
Pfam:CH	27	90	9.2e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193620

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 90.1%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,374,902	M894K	probably benign	Het
Ablim1	C	A	19: 57,134,633	C173F	probably damaging	Het
Abtb2	G	T	2: 103,709,420	R710L	probably benign	Het
AI481877	T	C	4: 59,064,457	T826A	possibly damaging	Het
Arap3	T	C	18: 37,978,432	T1144A	possibly damaging	Het
Arhgef12	A	T	9: 43,027,220	V92D	probably damaging	Het
Ash1l	T	G	3: 88,984,897	M1361R	probably damaging	Het
Atm	A	C	9: 53,457,489	N2337K	probably benign	Het
Cog7	T	C	7: 121,955,992	E316G	probably damaging	Het
Dsp	A	G	13: 38,186,695	Y858C	probably damaging	Het
Enc1	G	T	13: 97,246,184	G401C	probably damaging	Het
Gata6	T	C	18: 11,064,706	V506A	probably benign	Het
Gm16380	C	T	9: 53,884,187		noncoding transcript	Het
H2-Ke6	G	A	17: 34,027,643	R89C	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Ift80	T	A	3: 68,940,198	N322Y	probably damaging	Het
Katnal2	A	T	18: 76,977,432	L481Q	possibly damaging	Het
Kcnma1	T	C	14: 23,367,642	T713A	probably damaging	Het
Kif13a	T	C	13: 46,825,235	T230A	probably damaging	Het
Klhl14	C	A	18: 21,652,193	R59L	probably damaging	Het
Mecom	A	G	3: 29,980,889	C213R	probably damaging	Het
Mrpl13	T	A	15: 55,534,321	M178L	probably benign	Het
Myof	T	C	19: 37,901,911	E1971G	probably damaging	Het
Naa10	A	G	X: 73,917,916	V133A	probably damaging	Het
Nlrp4g	G	A	9: 124,349,434		noncoding transcript	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr1042	A	G	2: 86,159,429	*314Q	probably null	Het
Olfr1234	T	C	2: 89,363,322	T36A	probably damaging	Het
Olfr1297	A	T	2: 111,621,295	F260I	probably benign	Het
Oplah	T	C	15: 76,297,920	I1047V	probably benign	Het
Paip1	A	G	13: 119,457,017	D189G	probably damaging	Het
Pkn1	A	G	8: 83,673,522	F624L	probably damaging	Het
Plxnb1	C	A	9: 109,114,386	P1899H	probably damaging	Het
Rpa3	T	A	6: 8,257,720	E47D	probably benign	Het
Snai2	C	T	16: 14,708,180	H232Y	possibly damaging	Het
Spint5	T	C	2: 164,715,411	S23P	possibly damaging	Het
St8sia2	G	A	7: 73,966,994	Q78*	probably null	Het
Tktl2	A	G	8: 66,513,038	N416S	probably damaging	Het
Tm7sf3	T	A	6: 146,603,977	I494F	possibly damaging	Het
Trf	C	T	9: 103,226,108	V119M	probably 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
IGL03087:Igsf9	APN	1	172490743	missense	probably benign	0.00
degree	UTSW	1	172491757	critical splice donor site	probably null
G1citation:Igsf9	UTSW	1	172497163	missense	possibly damaging	0.95
R1258:Igsf9	UTSW	1	172492155	missense	probably benign	0.02
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
R8971:Igsf9	UTSW	1	172484466	start gained	probably benign
R9037:Igsf9	UTSW	1	172484514	missense	probably benign	0.02
R9527:Igsf9	UTSW	1	172495677	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

Predicted Primers

PCR Primer
(F):5'- CAGCTTTGGCTGATTGGACTCTGAG -3'
(R):5'- GAATTGCCTGGGAAACAAACAGACC -3'

Sequencing Primer
(F):5'- GTAAAGGCAGTATCCACTCGTTC -3'
(R):5'- CAGACCAGCTCAGAGCATGG -3'

Posted On

2014-03-14