Mutagenetix > Incidental Mutation

Incidental Mutation 'R6821:Igsf9'

537599

Institutional Source

Beutler Lab

Gene Symbol

Igsf9

Ensembl Gene

ENSMUSG00000037995

Gene Name

immunoglobulin superfamily, member 9

Synonyms

NRT1, Dasm1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

172481788-172498878 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 172484493 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 2 (I2T)

Ref Sequence

ENSEMBL: ENSMUSP00000117854 (fasta)

Gene Model

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

AlphaFold

Q05BQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000052629
AA Change: I2T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: I2T

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: I2T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: I2T

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: ENSMUST00000127052
AA Change: I2T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123401
Gene: ENSMUSG00000037995
AA Change: I2T

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: I2T

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117854
Gene: ENSMUSG00000037995
AA Change: I2T

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

unknown
Transcript: ENSMUST00000135267
AA Change: I2T

SMART Domains

Protein: ENSMUSP00000116948
Gene: ENSMUSG00000037995
AA Change: I2T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (63/65)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	T	C	19: 55,288,836	I417T	probably benign	Het
Adamts12	A	C	15: 11,152,048	K208T	probably benign	Het
Adamts8	T	A	9: 30,956,626	L582Q	probably benign	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Ano9	A	T	7: 141,107,256	F357I	possibly damaging	Het
Aox3	T	C	1: 58,150,388	V416A	probably benign	Het
Arhgap21	A	C	2: 20,848,848	F1901C	probably benign	Het
Atp8b2	A	T	3: 89,948,173	F506I	probably damaging	Het
Atp9b	A	T	18: 80,847,248	L292H	probably damaging	Het
C2cd5	A	G	6: 143,017,986	V891A	probably damaging	Het
Ccnt2	T	C	1: 127,803,335	S650P	probably damaging	Het
Cdhr3	T	A	12: 33,035,045	N791Y	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 104,309,702		probably null	Het
D630003M21Rik	A	C	2: 158,204,774	L761R	probably damaging	Het
Draxin	G	T	4: 148,115,691	Q101K	possibly damaging	Het
Dtx3l	A	T	16: 35,933,060	L392Q	probably damaging	Het
Eif3d	A	G	15: 77,961,655	S389P	possibly damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Epha4	T	C	1: 77,382,945	N757S	possibly damaging	Het
Fam228b	T	C	12: 4,763,083	I96V	probably benign	Het
Gars	A	G	6: 55,079,338	E728G	probably benign	Het
Gldn	T	C	9: 54,338,770	M535T	probably benign	Het
Gm13089	A	T	4: 143,699,304	L23*	probably null	Het
Gm47985	A	G	1: 151,183,036	T143A	possibly damaging	Het
Gpr6	T	C	10: 41,071,008	T193A	probably benign	Het
Grik5	C	T	7: 25,046,355	R431Q	possibly damaging	Het
Hecw1	T	A	13: 14,264,134	Y1315F	probably damaging	Het
Hs3st2	A	G	7: 121,500,522	D197G	possibly damaging	Het
Ints9	A	G	14: 65,037,458	E621G	probably benign	Het
Itm2b	G	A	14: 73,366,467	P47S	probably benign	Het
Map10	A	G	8: 125,670,399	K177R	probably benign	Het
Mdh2	T	C	5: 135,789,671	F260S	possibly damaging	Het
Mtmr11	A	G	3: 96,170,407	T573A	probably benign	Het
Mycbp2	A	T	14: 103,139,409	I3812N	probably damaging	Het
Myo15	A	G	11: 60,524,475	N3403S	probably damaging	Het
Nvl	G	A	1: 181,126,970	Q343*	probably null	Het
Ocstamp	A	T	2: 165,397,922	S115T	probably benign	Het
Olfr632	A	T	7: 103,937,586	I69F	probably benign	Het
Otoa	G	A	7: 121,092,847		probably null	Het
Pcdhb20	A	T	18: 37,506,122	N567I	probably damaging	Het
Pgm5	A	T	19: 24,861,647	V48E	possibly damaging	Het
Phlpp1	T	A	1: 106,386,444	S1182R	probably damaging	Het
Pik3r4	T	A	9: 105,650,606	L386Q	probably damaging	Het
Pop1	A	G	15: 34,508,639	K287E	possibly damaging	Het
Rad54b	A	G	4: 11,612,777	D803G	probably damaging	Het
Rbm26	G	A	14: 105,116,964		probably benign	Het
Rspry1	C	T	8: 94,635,431	Q113*	probably null	Het
Siah2	T	A	3: 58,691,770	S16C	probably benign	Het
Sirpa	C	A	2: 129,630,097	D481E	probably damaging	Het
Slc38a7	A	C	8: 95,844,920	D227E	probably benign	Het
Smc5	A	G	19: 23,242,787	V438A	probably benign	Het
Spast	A	G	17: 74,351,962	E108G	probably benign	Het
Speg	A	G	1: 75,417,903	E1752G	possibly damaging	Het
Tanc2	T	G	11: 105,886,490		probably null	Het
Tgfbi	T	C	13: 56,626,137	I243T	possibly damaging	Het
Tlr12	T	C	4: 128,616,892	S522G	possibly damaging	Het
Trav14-3	A	G	14: 53,763,472	I47V	probably benign	Het
Tsc22d4	T	C	5: 137,762,644	V109A	possibly damaging	Het
Ttl	G	A	2: 129,068,915	R73H	probably damaging	Het
Usp34	C	T	11: 23,367,491	T850I	possibly damaging	Het
Vdac3	T	C	8: 22,580,475	Y140C	probably damaging	Het
Vmn2r120	T	C	17: 57,536,659	R62G	probably benign	Het
Vmn2r17	T	A	5: 109,429,465	Y461N	probably damaging	Het
Wt1	T	A	2: 105,172,267	F493I	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
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
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'- AGTGAGCTAGGCACCAACTG -3'
(R):5'- GGAAGGCGTCATCAACATCTCTC -3'

Sequencing Primer
(F):5'- CTAGGCACCAACTGGAAGAGTG -3'
(R):5'- CTTTGCACGATTGGGGCAAAC -3'

Posted On

2018-10-18