Mutagenetix > Incidental Mutation

Incidental Mutation 'R3417:Igsf9b'

266850

Institutional Source

Beutler Lab

Gene Symbol

Igsf9b

Ensembl Gene

ENSMUSG00000034275

Gene Name

immunoglobulin superfamily, member 9B

Synonyms

AI414108, LOC235086

MMRRC Submission

040635-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.529) question?

Stock #

R3417 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27210500-27268842 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27220774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 47 (V47I)

Ref Sequence

ENSEMBL: ENSMUSP00000117017 (fasta)

Gene Model

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

AlphaFold

E9PZ19

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115247
AA Change: V47I

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275
AA Change: V47I

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

possibly damaging
Transcript: ENSMUST00000133213
AA Change: V47I

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: V47I

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

possibly damaging
Transcript: ENSMUST00000214357
AA Change: V47I

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,224,302 (GRCm39)		probably benign	Het
Adgrl2	T	C	3: 148,564,965 (GRCm39)	Y201C	probably damaging	Het
Ankar	A	G	1: 72,698,135 (GRCm39)		probably null	Het
Ankrd17	G	A	5: 90,391,772 (GRCm39)	T1857I	possibly damaging	Het
Atp6v0d2	A	G	4: 19,888,829 (GRCm39)		probably benign	Het
Cep170	G	T	1: 176,583,610 (GRCm39)	P923Q	probably damaging	Het
Cfc1	A	T	1: 34,575,457 (GRCm39)	R44*	probably null	Het
Col6a1	C	T	10: 76,548,203 (GRCm39)	V618M	unknown	Het
Crmp1	A	T	5: 37,426,031 (GRCm39)	I159L	possibly damaging	Het
Crocc	G	A	4: 140,773,758 (GRCm39)	T103I	possibly damaging	Het
Cyp4f39	T	C	17: 32,708,716 (GRCm39)	V421A	possibly damaging	Het
Ero1a	T	C	14: 45,525,323 (GRCm39)	T401A	possibly damaging	Het
Exoc6b	C	G	6: 84,867,547 (GRCm39)	L288F	possibly damaging	Het
Fsip2	G	A	2: 82,816,854 (GRCm39)	V4196I	possibly damaging	Het
Icosl	A	T	10: 77,907,869 (GRCm39)	N143I	possibly damaging	Het
Irag1	T	C	7: 110,476,161 (GRCm39)	T597A	possibly damaging	Het
Jrk	A	G	15: 74,578,734 (GRCm39)	Y184H	probably damaging	Het
Kdm5b	T	C	1: 134,515,715 (GRCm39)	L113P	probably damaging	Het
Klhl42	G	A	6: 147,009,378 (GRCm39)	V406M	probably damaging	Het
Lrp12	A	G	15: 39,741,678 (GRCm39)	F365L	probably damaging	Het
Lrrc37	A	T	11: 103,505,435 (GRCm39)	S2178T	possibly damaging	Het
Map4k5	A	T	12: 69,856,038 (GRCm39)	V716E	probably damaging	Het
Mcm9	T	C	10: 53,413,503 (GRCm39)	T1264A	possibly damaging	Het
Mia3	T	A	1: 183,143,444 (GRCm39)	D100V	probably damaging	Het
Mrgprb2	C	A	7: 48,202,281 (GRCm39)	R148L	probably damaging	Het
Mterf1a	A	G	5: 3,940,795 (GRCm39)	S358P	probably damaging	Het
Myd88	T	C	9: 119,166,556 (GRCm39)	I253V	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nqo2	G	T	13: 34,163,616 (GRCm39)	V92L	probably benign	Het
Or4k2	T	A	14: 50,424,069 (GRCm39)	T202S	possibly damaging	Het
Pcdhb15	A	T	18: 37,608,216 (GRCm39)	N483Y	probably damaging	Het
Pds5a	A	G	5: 65,795,235 (GRCm39)	F667S	probably damaging	Het
Plxnb1	C	A	9: 108,929,828 (GRCm39)	A228E	probably damaging	Het
Prpsap1	T	C	11: 116,369,410 (GRCm39)	S179G	probably benign	Het
Rtl4	C	T	X: 143,902,901 (GRCm39)	Q108*	probably null	Het
Scn8a	A	G	15: 100,869,549 (GRCm39)		probably benign	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc44a1	G	A	4: 53,553,549 (GRCm39)	V519I	probably benign	Het
Smg1	G	C	7: 117,748,076 (GRCm39)		probably benign	Het
Sptlc2	A	G	12: 87,393,582 (GRCm39)		probably benign	Het
St13	A	T	15: 81,253,651 (GRCm39)		probably benign	Het
Strbp	C	G	2: 37,480,737 (GRCm39)	R610T	possibly damaging	Het
Tas2r124	A	T	6: 132,732,601 (GRCm39)	R303S	probably benign	Het
Tex55	A	C	16: 38,649,102 (GRCm39)	D2E	probably benign	Het
Tgm3	G	A	2: 129,889,692 (GRCm39)	V629M	possibly damaging	Het
Tnr	T	C	1: 159,722,612 (GRCm39)	V1019A	probably benign	Het
Ttn	A	T	2: 76,615,908 (GRCm39)	C14932*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	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
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
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'- GCATAAGAGATGGGTGTCCTG -3'
(R):5'- AACACAGTCAAAACCTGGGG -3'

Sequencing Primer
(F):5'- GTCCTGGGTGTACTAGGGAC -3'
(R):5'- TACTCAGGGTCCACATGT -3'

Posted On

2015-02-18