Mutagenetix > Incidental Mutations

Incidental Mutation 'R7224:Igsf9'

561997

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 #

R7224 (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 172494782 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 515 (S515P)

Ref Sequence

ENSEMBL: ENSMUSP00000058275 (fasta)

Gene Model

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

AlphaFold

Q05BQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000052629
AA Change: S515P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058275
Gene: ENSMUSG00000037995
AA Change: S515P

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 damaging
Transcript: ENSMUST00000111235
AA Change: S515P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106866
Gene: ENSMUSG00000037995
AA Change: S515P

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

99% (79/80)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	A	G	8: 84,172,213	T577A	probably benign	Het
Aadac	C	T	3: 60,035,854	T60M	probably benign	Het
Actn4	C	T	7: 28,962,084	A34T	probably benign	Het
Acvrl1	A	G	15: 101,143,364	M466V	probably benign	Het
Adamts7	T	C	9: 90,185,815	Y453H	probably damaging	Het
Amfr	G	A	8: 93,984,856	P351S	probably damaging	Het
Ankrd26	G	A	6: 118,539,727	T492M	probably benign	Het
Anxa6	A	G	11: 54,986,167	F547L	probably damaging	Het
Ap5m1	T	G	14: 49,080,927	Y394D	unknown	Het
Atic	G	A	1: 71,570,855	V342I	probably benign	Het
Atl1	C	A	12: 69,955,353	T362N	probably benign	Het
Atp10a	A	T	7: 58,797,471	M654L	probably benign	Het
B3gnt5	A	T	16: 19,769,753	M241L	probably benign	Het
Bbs7	A	G	3: 36,605,728	V186A	possibly damaging	Het
C8b	T	C	4: 104,780,598	L89P	probably damaging	Het
Capn7	G	T	14: 31,370,721	E742*	probably null	Het
Ccdc162	G	A	10: 41,561,191	R1741C	probably damaging	Het
Chsy3	T	A	18: 59,408,975	L395H	probably damaging	Het
Cnot9	A	G	1: 74,517,229	T62A	probably benign	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Cyp2d12	T	A	15: 82,557,648		probably null	Het
Dnah7a	A	G	1: 53,397,261	V3974A	probably benign	Het
Dync1h1	G	A	12: 110,617,762	G533D	possibly damaging	Het
Elfn1	A	G	5: 139,972,473	S411G	probably benign	Het
Enpp3	T	C	10: 24,776,884	D725G	possibly damaging	Het
Epp13	T	G	7: 6,268,802	M77R	probably benign	Het
Fmnl1	T	C	11: 103,182,769		probably null	Het
Fndc8	T	C	11: 82,892,325	M44T	probably benign	Het
Gcgr	A	T	11: 120,534,712		probably benign	Het
Ggt1	T	A	10: 75,574,276	V14D	possibly damaging	Het
Gigyf2	A	G	1: 87,403,725	I198M	unknown	Het
Gm28710	T	C	5: 16,836,594	V615A	possibly damaging	Het
Gm40460	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG	7: 142,240,434		probably benign	Het
Gm6034	T	A	17: 36,056,439	S59T	unknown	Het
Gm6408	G	A	5: 146,484,370	V270I	probably benign	Het
Gm853	C	G	4: 130,219,199	A135P	probably damaging	Het
Gpr20	A	T	15: 73,696,132	I136N	probably damaging	Het
Ide	T	C	19: 37,290,761	E565G		Het
Kbtbd12	G	A	6: 88,613,983	R416*	probably null	Het
Kcnd3	A	T	3: 105,669,084	I615F	probably damaging	Het
Kcnk7	A	T	19: 5,706,777	M265L	probably benign	Het
Klhdc1	G	A	12: 69,263,149	S275N	probably damaging	Het
Lrba	A	C	3: 86,395,246	N1871T	probably damaging	Het
Lrrk1	A	G	7: 66,332,386	V169A	probably damaging	Het
Magi1	A	G	6: 93,683,089	I1175T	probably benign	Het
Man1a2	T	C	3: 100,582,053	T537A	possibly damaging	Het
Mrpl17	T	C	7: 105,810,002	N129S	probably damaging	Het
Mup5	G	A	4: 61,832,385	R174C	probably damaging	Het
Ndufaf1	G	A	2: 119,658,396	R216C	probably damaging	Het
Neb	T	C	2: 52,334,659		probably null	Het
Olfml3	T	C	3: 103,735,860	K402E	probably damaging	Het
Olfr553	A	T	7: 102,614,767	M74K	probably damaging	Het
Olfr76	T	C	19: 12,120,548	T55A	probably benign	Het
Olfr875	G	A	9: 37,773,415	G252D	possibly damaging	Het
Osbpl8	C	T	10: 111,275,011	P458L	possibly damaging	Het
Pcdh20	T	C	14: 88,469,075	E263G	possibly damaging	Het
Pkd1l1	A	G	11: 8,945,241	L623P		Het
Plxdc1	T	C	11: 97,932,327	T363A	possibly damaging	Het
Pole3	T	C	4: 62,524,050	D111G	unknown	Het
R3hdm2	T	A	10: 127,458,153	L172Q	probably damaging	Het
Rbm33	T	C	5: 28,394,324	V90A		Het
Rcbtb1	C	G	14: 59,228,379	I390M	probably damaging	Het
Romo1	G	A	2: 156,144,375		probably benign	Het
Sars	A	G	3: 108,428,203	Y410H	probably damaging	Het
Sesn2	T	C	4: 132,497,413	T327A	probably benign	Het
Slc30a5	A	G	13: 100,809,254	V530A	probably damaging	Het
Slc30a9	G	A	5: 67,315,701	E43K	probably benign	Het
Slc38a2	A	C	15: 96,691,359	L418W	probably damaging	Het
Snx14	T	C	9: 88,394,561	E557G	possibly damaging	Het
Spata33	T	A	8: 123,221,998	I123K	probably damaging	Het
Tdrd3	A	T	14: 87,477,403	H170L	probably damaging	Het
Trpm1	A	G	7: 64,219,106		probably null	Het
Tsr3	A	T	17: 25,242,595	E302D	probably benign	Het
Ttll11	A	G	2: 35,902,673	I386T	probably damaging	Het
Usp2	C	T	9: 44,075,969	T188M	possibly damaging	Het
Usp44	A	G	10: 93,845,993	I102V	probably benign	Het
Wasf1	A	G	10: 40,926,550	N67S	probably benign	Het
Zfp445	T	C	9: 122,852,143	N911S	probably benign	Het
Zfp467	A	G	6: 48,444,969		probably null	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
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
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'- ATATGTGCTAGGTTAGTGGCCC -3'
(R):5'- GCATGTGGCTAGGCATAGAG -3'

Sequencing Primer
(F):5'- CTAGGTTAGTGGCCCGGGAG -3'
(R):5'- TGGCTAGGCATAGAGAGGGAC -3'

Posted On

2019-06-26