Mutagenetix > Incidental Mutation

Incidental Mutation 'R7893:Igsf9'

609416

Institutional Source

Beutler Lab

Gene Symbol

Igsf9

Ensembl Gene

ENSMUSG00000037995

Gene Name

immunoglobulin superfamily, member 9

Synonyms

NRT1, Dasm1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7893 (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 172497302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 929 (L929P)

Ref Sequence

ENSEMBL: ENSMUSP00000058275 (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: L929P

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

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: L929P

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: L929P

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

SMART Domains

Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: L929P

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: 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

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,539	W291R	probably damaging	Het
9130019O22Rik	T	A	7: 127,386,544		probably benign	Het
Abca3	A	T	17: 24,385,466	I604F	probably damaging	Het
Adar	T	A	3: 89,750,651	D1062E	probably damaging	Het
Agap2	A	G	10: 127,080,195	T192A	unknown	Het
Aim2	T	C	1: 173,463,926	V299A	possibly damaging	Het
Arhgap33	T	C	7: 30,528,776	I394V	probably benign	Het
Atg2a	T	C	19: 6,251,296	F800S	probably damaging	Het
Btnl10	T	A	11: 58,923,809	N438K	probably benign	Het
C9	T	A	15: 6,483,245	F283I	possibly damaging	Het
Camk2n2	T	C	16: 20,621,076	N40S	possibly damaging	Het
Cd53	T	A	3: 106,767,386	I122F	probably benign	Het
Col4a1	T	C	8: 11,220,243	D45G	unknown	Het
Copa	T	A	1: 172,119,565	C1085*	probably null	Het
Cpt1b	A	G	15: 89,423,654		probably null	Het
Cyp24a1	C	G	2: 170,496,516		probably null	Het
Cyp2c40	A	T	19: 39,786,848	V320E	probably damaging	Het
Efcab7	A	T	4: 99,888,861	D210V	probably damaging	Het
Elfn2	G	A	15: 78,673,168	T393I	probably damaging	Het
Fbxw11	A	T	11: 32,720,489	I152L	probably benign	Het
Gab1	A	T	8: 80,784,766	F483L	possibly damaging	Het
Git2	G	T	5: 114,769,676	R43S	possibly damaging	Het
Gm11639	A	C	11: 104,979,360	S3985R	unknown	Het
Gm43302	G	A	5: 105,289,025	Q72*	probably null	Het
Hcn2	T	C	10: 79,724,411	L192P	probably damaging	Het
Htra4	A	C	8: 25,033,679	F290C	possibly damaging	Het
Ide	C	T	19: 37,284,151	V731I		Het
Iqgap2	G	A	13: 95,689,709	A535V	probably damaging	Het
Itga10	T	C	3: 96,649,612	W217R	probably damaging	Het
Kdm2b	A	G	5: 122,947,739	F276L	probably benign	Het
Klf16	T	C	10: 80,576,960	S81G	probably benign	Het
L1td1	G	T	4: 98,733,741	C180F	possibly damaging	Het
Map4k2	A	C	19: 6,353,511	H817P	probably damaging	Het
Marf1	A	T	16: 14,146,735	V446D	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Mylk	G	C	16: 34,879,524	S419T	probably benign	Het
Nckipsd	A	G	9: 108,815,389	H604R	probably damaging	Het
Nedd9	A	T	13: 41,315,789	D629E	probably damaging	Het
Nlrp5	C	T	7: 23,418,165	T438I	probably benign	Het
Olfr1238	T	A	2: 89,407,070	Q3L	probably benign	Het
Olfr507	A	G	7: 108,622,637	K275R	probably damaging	Het
Olfr610	A	T	7: 103,506,610	I112N	possibly damaging	Het
Otud7a	G	T	7: 63,758,552	D868Y	probably damaging	Het
Pcdhga6	T	C	18: 37,708,013	L262S	probably damaging	Het
Plec	C	T	15: 76,172,532	V4402I	possibly damaging	Het
Ppp1r14c	A	T	10: 3,423,510	D107V	probably damaging	Het
Prkg1	A	T	19: 30,586,367	C482S	probably damaging	Het
Prpf40a	A	T	2: 53,156,841	N294K	probably benign	Het
Rbpj	A	G	5: 53,645,874	Y148C	probably damaging	Het
Rnf19a	A	G	15: 36,241,668	S742P	possibly damaging	Het
Rnf207	T	A	4: 152,311,438	Q533L	probably damaging	Het
Rsf1	A	G	7: 97,661,958	T632A		Het
Rtl1	C	T	12: 109,593,921	V495I	possibly damaging	Het
Sh2d3c	T	A	2: 32,749,376	C491*	probably null	Het
Sik1	A	T	17: 31,850,046	L285Q	probably benign	Het
Sipa1l1	T	A	12: 82,341,568	D189E	probably benign	Het
Slc25a25	G	A	2: 32,451,165	Q54*	probably null	Het
Slu7	T	C	11: 43,444,836		probably null	Het
Sorbs3	T	A	14: 70,193,916	N265I	probably benign	Het
Sspo	A	T	6: 48,463,310	E1645V	probably benign	Het
Swap70	A	G	7: 110,221,875	D22G	probably benign	Het
Ttc34	T	C	4: 154,861,300	C264R	probably benign	Het
Ttll2	T	A	17: 7,352,091	T146S	probably benign	Het
Ttn	C	T	2: 76,927,204	E3402K	unknown	Het
Twf1	A	T	15: 94,584,446	S140T	probably benign	Het
Vmn1r12	T	C	6: 57,159,434	L172P	probably damaging	Het
Vmn1r19	T	A	6: 57,404,679	N72K	probably damaging	Het
Vmn2r17	G	A	5: 109,428,078	E272K	probably benign	Het
Zfpm2	A	G	15: 41,102,612	D831G	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
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
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'- CTTTGTGATGGGACCCACTGTG -3'
(R):5'- ATCAGTGTCCCAGGAAGCAC -3'

Sequencing Primer
(F):5'- TTATGTCTGGAGCGCTCAGAACC -3'
(R):5'- AAGCACTGCCCTGAGATTTG -3'

Posted On

2019-12-20