Mutagenetix > Incidental Mutation

Incidental Mutation 'R6556:Igsf9b'

522174

Institutional Source

Beutler Lab

Gene Symbol

Igsf9b

Ensembl Gene

ENSMUSG00000034275

Gene Name

immunoglobulin superfamily, member 9B

Synonyms

AI414108, LOC235086

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27210500-27268842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27240851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 688 (F688S)

Ref Sequence

ENSEMBL: ENSMUSP00000149356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115247] [ENSMUST00000133213] [ENSMUST00000214357]

AlphaFold

E9PZ19

Predicted Effect

probably damaging
Transcript: ENSMUST00000115247
AA Change: F684S

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

SMART Domains

Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: F684S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	30	134	9.41e-9	SMART
IGc2	152	215	1.82e-15	SMART
FN3	232	302	7.02e1	SMART
IGc2	241	310	3.01e-7	SMART
IG	331	417	2.79e-2	SMART
IGc2	433	495	5.48e-10	SMART
FN3	510	591	1.35e-7	SMART
FN3	615	695	3.08e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133213
AA Change: F684S

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

SMART Domains

Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: F684S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG	30	134	9.41e-9	SMART
IGc2	152	215	1.82e-15	SMART
FN3	232	302	7.02e1	SMART
IGc2	241	310	3.01e-7	SMART
IG	331	417	2.79e-2	SMART
IGc2	433	495	5.48e-10	SMART
FN3	510	591	1.35e-7	SMART
FN3	615	695	3.08e-2	SMART
transmembrane domain	727	749	N/A	INTRINSIC
low complexity region	750	760	N/A	INTRINSIC
low complexity region	835	843	N/A	INTRINSIC
low complexity region	971	982	N/A	INTRINSIC
low complexity region	990	1001	N/A	INTRINSIC
low complexity region	1148	1161	N/A	INTRINSIC
low complexity region	1172	1190	N/A	INTRINSIC
low complexity region	1246	1273	N/A	INTRINSIC
low complexity region	1284	1296	N/A	INTRINSIC
low complexity region	1313	1326	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214187

Predicted Effect

probably damaging
Transcript: ENSMUST00000214357
AA Change: F688S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosb	C	T	4: 43,033,896 (GRCm39)	R460H	probably damaging	Het
Atp2a1	G	T	7: 126,049,434 (GRCm39)	P536Q	probably benign	Het
Bnip5	T	A	17: 29,123,585 (GRCm39)	D114V	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Camkk1	A	T	11: 72,924,696 (GRCm39)	N303I	probably benign	Het
Cdh13	C	T	8: 119,694,926 (GRCm39)	P259S	probably damaging	Het
Csnk1g3	A	G	18: 54,063,354 (GRCm39)	D255G	possibly damaging	Het
Dennd5b	A	C	6: 148,915,749 (GRCm39)		probably null	Het
Dnajc14	A	G	10: 128,650,500 (GRCm39)	D528G	probably benign	Het
Edem1	T	C	6: 108,831,318 (GRCm39)	F593S	probably benign	Het
Efcab3	A	G	11: 104,899,077 (GRCm39)	N4343S	probably null	Het
Erbb2	G	A	11: 98,326,908 (GRCm39)	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,590,321 (GRCm39)	M794V	possibly damaging	Het
Fip1l1	T	A	5: 74,707,838 (GRCm39)		probably null	Het
Gm20730	C	T	6: 43,058,476 (GRCm39)	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,458,089 (GRCm39)	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,500,515 (GRCm39)	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,706,092 (GRCm39)	V31E	probably damaging	Het
Iqcd	T	C	5: 120,740,443 (GRCm39)	V258A	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lpo	G	T	11: 87,708,589 (GRCm39)	Y136*	probably null	Het
Med30	A	G	15: 52,593,779 (GRCm39)		probably benign	Het
Mertk	T	A	2: 128,618,341 (GRCm39)	V524D	probably benign	Het
Ndufb11b	A	G	15: 81,864,939 (GRCm39)	D60G	probably damaging	Het
Or4c126	T	A	2: 89,824,517 (GRCm39)	F260Y	probably benign	Het
Or4c52	T	C	2: 89,845,438 (GRCm39)	Y55H	probably damaging	Het
Or5l13	T	C	2: 87,780,320 (GRCm39)	I86V	probably benign	Het
Pde6b	T	A	5: 108,569,367 (GRCm39)	M358K	possibly damaging	Het
Prep	GA	G	10: 45,034,410 (GRCm39)		probably null	Het
Prpf4b	G	A	13: 35,080,015 (GRCm39)	R793Q	probably damaging	Het
Rela	T	A	19: 5,697,366 (GRCm39)	N524K	probably damaging	Het
Relch	T	A	1: 105,654,165 (GRCm39)	F845I	probably damaging	Het
Rnaset2a	T	C	17: 8,360,480 (GRCm39)	D74G	probably damaging	Het
Semp2l2a	G	A	8: 13,887,690 (GRCm39)	Q134*	probably null	Het
Serinc2	T	A	4: 130,152,064 (GRCm39)	I267F	probably damaging	Het
Sesn3	T	C	9: 14,232,549 (GRCm39)	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,553 (GRCm39)	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,260,478 (GRCm39)	D367V	possibly damaging	Het
Tasor	T	G	14: 27,151,215 (GRCm39)	Y64D	probably benign	Het
Tnnt1	T	C	7: 4,512,576 (GRCm39)	E110G	probably damaging	Het
Tpm1	T	A	9: 66,935,451 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,994,105 (GRCm39)	V412A	probably benign	Het
Uox	G	C	3: 146,330,403 (GRCm39)		probably null	Het
Usp44	T	C	10: 93,681,870 (GRCm39)	Y107H	probably benign	Het

Other mutations in Igsf9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Igsf9b	APN	9	27,230,951 (GRCm39)	missense	probably damaging	1.00
IGL01013:Igsf9b	APN	9	27,245,600 (GRCm39)	missense	probably damaging	1.00
IGL01960:Igsf9b	APN	9	27,239,902 (GRCm39)	missense	possibly damaging	0.93
IGL02398:Igsf9b	APN	9	27,244,426 (GRCm39)	missense	possibly damaging	0.54
IGL03007:Igsf9b	APN	9	27,244,378 (GRCm39)	missense	probably damaging	0.98
G1Funyon:Igsf9b	UTSW	9	27,246,035 (GRCm39)	utr 3 prime	probably benign
IGL03014:Igsf9b	UTSW	9	27,233,932 (GRCm39)	missense	probably benign	0.00
R0127:Igsf9b	UTSW	9	27,245,681 (GRCm39)	missense	possibly damaging	0.65
R0376:Igsf9b	UTSW	9	27,245,878 (GRCm39)	missense	probably benign	0.01
R0520:Igsf9b	UTSW	9	27,234,546 (GRCm39)	missense	probably benign	0.00
R0534:Igsf9b	UTSW	9	27,244,358 (GRCm39)	splice site	probably null
R0613:Igsf9b	UTSW	9	27,238,216 (GRCm39)	missense	probably damaging	1.00
R0718:Igsf9b	UTSW	9	27,234,657 (GRCm39)	critical splice donor site	probably null
R0828:Igsf9b	UTSW	9	27,230,901 (GRCm39)	nonsense	probably null
R0879:Igsf9b	UTSW	9	27,245,038 (GRCm39)	missense	probably damaging	1.00
R0882:Igsf9b	UTSW	9	27,230,612 (GRCm39)	missense	probably damaging	0.98
R0987:Igsf9b	UTSW	9	27,243,849 (GRCm39)	splice site	probably null
R1162:Igsf9b	UTSW	9	27,238,185 (GRCm39)	missense	probably benign
R1758:Igsf9b	UTSW	9	27,245,548 (GRCm39)	missense	possibly damaging	0.50
R1760:Igsf9b	UTSW	9	27,229,123 (GRCm39)	missense	possibly damaging	0.82
R1819:Igsf9b	UTSW	9	27,222,889 (GRCm39)	missense	probably damaging	0.98
R1823:Igsf9b	UTSW	9	27,243,028 (GRCm39)	missense	probably damaging	0.96
R1982:Igsf9b	UTSW	9	27,233,535 (GRCm39)	missense	possibly damaging	0.82
R2150:Igsf9b	UTSW	9	27,245,633 (GRCm39)	missense	probably damaging	1.00
R2228:Igsf9b	UTSW	9	27,244,792 (GRCm39)	missense	probably damaging	1.00
R2229:Igsf9b	UTSW	9	27,244,792 (GRCm39)	missense	probably damaging	1.00
R2250:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R2872:Igsf9b	UTSW	9	27,233,519 (GRCm39)	missense	probably benign	0.11
R2872:Igsf9b	UTSW	9	27,233,519 (GRCm39)	missense	probably benign	0.11
R3415:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R3416:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R3417:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R3427:Igsf9b	UTSW	9	27,245,873 (GRCm39)	missense	probably damaging	0.99
R4356:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R4357:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R4358:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R4359:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R4379:Igsf9b	UTSW	9	27,220,774 (GRCm39)	missense	possibly damaging	0.95
R4416:Igsf9b	UTSW	9	27,234,213 (GRCm39)	missense	probably damaging	1.00
R4445:Igsf9b	UTSW	9	27,245,548 (GRCm39)	missense	probably benign	0.13
R4446:Igsf9b	UTSW	9	27,245,548 (GRCm39)	missense	probably benign	0.13
R4787:Igsf9b	UTSW	9	27,228,752 (GRCm39)	missense	probably benign	0.26
R4887:Igsf9b	UTSW	9	27,233,946 (GRCm39)	missense	probably benign	0.45
R5085:Igsf9b	UTSW	9	27,228,733 (GRCm39)	missense	probably benign	0.03
R5360:Igsf9b	UTSW	9	27,222,968 (GRCm39)	missense	probably damaging	0.98
R5417:Igsf9b	UTSW	9	27,245,572 (GRCm39)	small insertion	probably benign
R5686:Igsf9b	UTSW	9	27,235,475 (GRCm39)	missense	probably damaging	0.99
R5738:Igsf9b	UTSW	9	27,239,826 (GRCm39)	missense	probably damaging	0.98
R5869:Igsf9b	UTSW	9	27,234,531 (GRCm39)	missense	probably benign	0.44
R6304:Igsf9b	UTSW	9	27,253,871 (GRCm39)	missense	probably benign	0.19
R6359:Igsf9b	UTSW	9	27,220,895 (GRCm39)	missense	probably benign	0.25
R6367:Igsf9b	UTSW	9	27,220,821 (GRCm39)	nonsense	probably null
R7058:Igsf9b	UTSW	9	27,234,150 (GRCm39)	missense	probably damaging	0.99
R7165:Igsf9b	UTSW	9	27,245,536 (GRCm39)	missense	probably benign
R7180:Igsf9b	UTSW	9	27,233,964 (GRCm39)	missense	possibly damaging	0.95
R7212:Igsf9b	UTSW	9	27,242,992 (GRCm39)	missense	probably damaging	0.98
R7461:Igsf9b	UTSW	9	27,245,418 (GRCm39)	missense	probably benign	0.10
R7605:Igsf9b	UTSW	9	27,234,608 (GRCm39)	missense	probably damaging	0.98
R7609:Igsf9b	UTSW	9	27,257,186 (GRCm39)	missense	probably benign
R7613:Igsf9b	UTSW	9	27,245,418 (GRCm39)	missense	probably benign	0.10
R8072:Igsf9b	UTSW	9	27,228,660 (GRCm39)	missense	possibly damaging	0.94
R8163:Igsf9b	UTSW	9	27,233,907 (GRCm39)	splice site	probably null
R8301:Igsf9b	UTSW	9	27,246,035 (GRCm39)	utr 3 prime	probably benign
R8546:Igsf9b	UTSW	9	27,244,426 (GRCm39)	missense	possibly damaging	0.54
R8553:Igsf9b	UTSW	9	27,244,739 (GRCm39)	missense	probably damaging	0.96
R9438:Igsf9b	UTSW	9	27,243,839 (GRCm39)	missense	probably benign	0.03
R9585:Igsf9b	UTSW	9	27,233,532 (GRCm39)	missense	probably damaging	1.00
R9720:Igsf9b	UTSW	9	27,220,810 (GRCm39)	missense	probably damaging	0.99
X0013:Igsf9b	UTSW	9	27,243,021 (GRCm39)	missense	possibly damaging	0.89
X0025:Igsf9b	UTSW	9	27,220,757 (GRCm39)	missense	probably damaging	1.00
X0028:Igsf9b	UTSW	9	27,245,668 (GRCm39)	missense	probably damaging	1.00
Z1176:Igsf9b	UTSW	9	27,228,649 (GRCm39)	critical splice acceptor site	probably null
Z1177:Igsf9b	UTSW	9	27,245,588 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTGGCTTCATGTGCATAC -3'
(R):5'- GCTTAAGCTTTCAGCCCAGC -3'

Sequencing Primer
(F):5'- CCATAGCTTGAATACCGGTGG -3'
(R):5'- AGCTTGTCCTCCCAGATTAGCTG -3'

Posted On

2018-06-06