Mutagenetix > Incidental Mutation

Incidental Mutation 'R8072:Igsf9b'

620293

Institutional Source

Beutler Lab

Gene Symbol

Igsf9b

Ensembl Gene

ENSMUSG00000034275

Gene Name

immunoglobulin superfamily, member 9B

Synonyms

AI414108, LOC235086

MMRRC Submission

067507-MU

Accession Numbers

Essential gene?

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

Stock #

R8072 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27210500-27268842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 27228660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 140 (T140N)

Ref Sequence

ENSEMBL: ENSMUSP00000110902 (fasta)

Gene Model

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

AlphaFold

E9PZ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115247
AA Change: T140N

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: T140N

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: T140N

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: T140N

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

probably damaging
Transcript: ENSMUST00000214357
AA Change: T140N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,244,574 (GRCm39)	S2146P	probably benign	Het
Acad9	G	A	3: 36,129,404 (GRCm39)	V160I	probably benign	Het
Ace	T	C	11: 105,863,785 (GRCm39)	V411A	probably damaging	Het
Ankrd66	T	C	17: 43,854,526 (GRCm39)	E2G	possibly damaging	Het
Apol6	A	T	15: 76,935,303 (GRCm39)	T191S	probably benign	Het
Arhgef17	T	A	7: 100,531,004 (GRCm39)	T352S	probably benign	Het
Atad2	C	T	15: 57,963,374 (GRCm39)	R1081Q	possibly damaging	Het
Atg3	G	T	16: 45,008,048 (GRCm39)	V297F	probably damaging	Het
Atp9b	A	C	18: 80,808,276 (GRCm39)	S663A		Het
Col10a1	G	T	10: 34,266,663 (GRCm39)	V16F	unknown	Het
Col3a1	G	A	1: 45,360,734 (GRCm39)	V55I	unknown	Het
Ctns	T	C	11: 73,082,572 (GRCm39)	T53A	probably benign	Het
Cyp2b23	A	T	7: 26,365,431 (GRCm39)	I468N	probably damaging	Het
Dcbld2	G	A	16: 58,283,460 (GRCm39)	W565*	probably null	Het
Esco2	A	T	14: 66,070,130 (GRCm39)	N16K	probably benign	Het
Fggy	A	G	4: 95,732,394 (GRCm39)	N462D	possibly damaging	Het
Fhod3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGA	18: 25,153,722 (GRCm39)		probably benign	Het
Gm4846	T	C	1: 166,322,241 (GRCm39)	T109A	probably benign	Het
H2-M11	G	T	17: 36,859,026 (GRCm39)	V189L	probably benign	Het
Hmcn1	T	A	1: 150,532,256 (GRCm39)	T3175S	possibly damaging	Het
Hook2	G	A	8: 85,721,120 (GRCm39)	V184M	probably benign	Het
Hspa4l	A	T	3: 40,741,178 (GRCm39)	D730V	probably damaging	Het
Igkv4-68	C	T	6: 69,282,113 (GRCm39)	M19I	probably benign	Het
Kcnj1	G	A	9: 32,308,593 (GRCm39)	R339Q	probably damaging	Het
Lcn8	T	G	2: 25,545,184 (GRCm39)	L118W	probably damaging	Het
Lin28a	A	G	4: 133,745,453 (GRCm39)	F47L	possibly damaging	Het
Loxl4	T	C	19: 42,596,021 (GRCm39)	E144G	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrgprb1	C	A	7: 48,097,895 (GRCm39)	E6*	probably null	Het
Mthfsd	A	C	8: 121,825,555 (GRCm39)	Y339D	probably damaging	Het
Mup11	A	T	4: 60,615,777 (GRCm39)	F153L	probably damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Plpp7	G	T	2: 31,986,121 (GRCm39)	A100S	probably benign	Het
Prg4	T	C	1: 150,331,774 (GRCm39)	T300A	possibly damaging	Het
Ptprd	A	G	4: 76,004,273 (GRCm39)	F161L	probably benign	Het
Pwp2	G	A	10: 78,007,930 (GRCm39)	A875V	possibly damaging	Het
Rhd	A	G	4: 134,611,460 (GRCm39)	T207A	possibly damaging	Het
Sh2d3c	C	T	2: 32,643,150 (GRCm39)	R778C	probably damaging	Het
Slc34a3	A	C	2: 25,119,289 (GRCm39)	V527G	probably benign	Het
Smad2	T	C	18: 76,420,022 (GRCm39)		probably null	Het
Sp110	GTACT	GTACTACT	1: 85,515,207 (GRCm39)		probably benign	Het
Spata21	C	T	4: 140,839,317 (GRCm39)	Q611*	probably null	Het
Taf4b	A	G	18: 14,954,585 (GRCm39)	T554A	probably benign	Het
Tial1	T	C	7: 128,044,194 (GRCm39)	T107A	unknown	Het
Ubxn6	C	A	17: 56,380,195 (GRCm39)	R42L	probably benign	Het
Vmn2r90	A	T	17: 17,947,142 (GRCm39)	N473I	probably damaging	Het
Ythdc1	T	A	5: 86,969,133 (GRCm39)	Y351*	probably null	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
R6556:Igsf9b	UTSW	9	27,240,851 (GRCm39)	missense	probably damaging	1.00
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
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'- AATTCGAACTGCAGTGCCTGG -3'
(R):5'- GCTGCATTCCATGGGAGATG -3'

Sequencing Primer
(F):5'- CTGGGAGAGGCTAATCAGTAGGTTC -3'
(R):5'- CAGGAAGCGTGGCTGTG -3'

Posted On

2020-01-23