Mutagenetix > Incidental Mutation

Incidental Mutation 'R6367:Igsf9b'

512749

Institutional Source

Beutler Lab

Gene Symbol

Igsf9b

Ensembl Gene

ENSMUSG00000034275

Gene Name

immunoglobulin superfamily, member 9B

Synonyms

AI414108, LOC235086

MMRRC Submission

044517-MU

Accession Numbers

Essential gene?

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

Stock #

R6367 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27210500-27268842 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 27220821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 62 (W62*)

Ref Sequence

ENSEMBL: ENSMUSP00000149356 (fasta)

Gene Model

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

AlphaFold

E9PZ19

Predicted Effect

probably null
Transcript: ENSMUST00000115247
AA Change: W62*

SMART Domains

Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: W62*

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 null
Transcript: ENSMUST00000133213
AA Change: W62*

SMART Domains

Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: W62*

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 null
Transcript: ENSMUST00000214357
AA Change: W62*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,166,248 (GRCm39)	N54D	possibly damaging	Het
Abca4	A	C	3: 121,897,229 (GRCm39)	Q636P	probably damaging	Het
Agk	T	C	6: 40,363,875 (GRCm39)	F285S	probably benign	Het
Als2	C	A	1: 59,238,299 (GRCm39)	V678L	probably benign	Het
Arhgap17	T	C	7: 122,907,586 (GRCm39)	*231W	probably null	Het
Atp11b	A	G	3: 35,838,686 (GRCm39)	T89A	probably damaging	Het
Axl	A	T	7: 25,486,858 (GRCm39)	C50S	probably damaging	Het
Cachd1	A	G	4: 100,860,167 (GRCm39)	D1246G	probably damaging	Het
Dip2b	A	T	15: 100,013,795 (GRCm39)	Q57L	possibly damaging	Het
Dnah14	A	G	1: 181,582,951 (GRCm39)		probably null	Het
Enpep	G	T	3: 129,125,730 (GRCm39)	T134N	possibly damaging	Het
Ets1	C	T	9: 32,645,256 (GRCm39)	Q168*	probably null	Het
Fanci	T	C	7: 79,075,943 (GRCm39)	C529R	probably damaging	Het
Fbxw28	A	G	9: 109,168,599 (GRCm39)		probably null	Het
Gucy2c	C	T	6: 136,686,776 (GRCm39)	E796K	probably damaging	Het
Kcng1	C	A	2: 168,104,572 (GRCm39)	V425L	probably damaging	Het
Kndc1	T	C	7: 139,493,422 (GRCm39)	S463P	probably damaging	Het
Lrba	G	C	3: 86,275,869 (GRCm39)	A1746P	probably benign	Het
Mgat4c	G	T	10: 102,221,015 (GRCm39)		probably null	Het
Nckap1l	G	A	15: 103,384,149 (GRCm39)	M582I	probably benign	Het
Oacyl	G	T	18: 65,858,515 (GRCm39)	R207L	probably damaging	Het
Or12e13	T	C	2: 87,663,937 (GRCm39)	C185R	probably damaging	Het
Or2m12	C	T	16: 19,104,822 (GRCm39)	V224M	probably damaging	Het
Or4c52	A	G	2: 89,845,360 (GRCm39)	I29V	probably benign	Het
Or51f5	C	A	7: 102,424,036 (GRCm39)	Q102K	possibly damaging	Het
Pacsin2	C	T	15: 83,266,033 (GRCm39)	A55T	probably benign	Het
Plekhm2	T	C	4: 141,367,016 (GRCm39)	D208G	probably damaging	Het
Ptpru	T	C	4: 131,501,663 (GRCm39)	D1181G	probably benign	Het
Safb	A	G	17: 56,900,845 (GRCm39)		probably benign	Het
Scp2	T	A	4: 107,969,447 (GRCm39)	Y35F	probably damaging	Het
Secisbp2	A	G	13: 51,836,177 (GRCm39)	Y757C	probably damaging	Het
Sp110	C	T	1: 85,522,013 (GRCm39)	V97M	probably benign	Het
Ssx2ip	A	G	3: 146,124,921 (GRCm39)	Y82C	probably benign	Het
Svopl	A	T	6: 37,996,614 (GRCm39)	W288R	possibly damaging	Het
Tdg	T	C	10: 82,483,822 (GRCm39)	Y345H	possibly damaging	Het
Tmem109	A	G	19: 10,851,727 (GRCm39)	F53S	possibly damaging	Het
Tpsab1	G	T	17: 25,562,448 (GRCm39)	T293N	probably damaging	Het
Trpm8	A	G	1: 88,287,405 (GRCm39)	D796G	probably damaging	Het
Tuba1c	T	C	15: 98,935,334 (GRCm39)	I265T	probably damaging	Het
Unc80	T	C	1: 66,711,925 (GRCm39)	V2749A	probably benign	Het
Utrn	A	G	10: 12,623,719 (GRCm39)	L173P	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wbp2	G	T	11: 115,974,741 (GRCm39)	T31N	probably benign	Het
Wdr1	G	T	5: 38,703,189 (GRCm39)	A129D	possibly damaging	Het
Yod1	G	A	1: 130,645,275 (GRCm39)	G19S	probably damaging	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
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
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'- GGTTGGATATCAGCATAAACTGTAGG -3'
(R):5'- ATGAAGAGTGGCTGGGACTC -3'

Sequencing Primer
(F):5'- GAGCAGGATCTTTTTGGCCAATTCC -3'
(R):5'- TGGGACTCGGAGGATGC -3'

Posted On

2018-04-27