Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01013:Igsf9b'

53767

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igsf9b

Ensembl Gene

ENSMUSG00000034275

Gene Name

immunoglobulin superfamily, member 9B

Synonyms

LOC235086

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.857) question?

Stock #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

27299204-27357546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 27334304 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 1189 (R1189L)

Ref Sequence

ENSEMBL: ENSMUSP00000149356 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115247

SMART Domains

Protein: ENSMUSP00000110902
Gene: ENSMUSG00000034275

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: R1185L

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

SMART Domains

Protein: ENSMUSP00000117017
Gene: ENSMUSG00000034275
AA Change: R1185L

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: R1189L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 76,886,206	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185	L2059*	probably null	Het
Ankar	T	A	1: 72,650,989	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,949,476	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,323,087	R1103L	probably benign	Het
B4galt6	A	G	18: 20,689,013	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,581,339	P1534L	probably benign	Het
Ccdc78	A	G	17: 25,789,054	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,740,869	R141*	probably null	Het
Cpsf1	G	A	15: 76,599,297	Q883*	probably null	Het
Crot	A	G	5: 8,993,575	Y16H	probably benign	Het
Cyld	T	G	8: 88,742,362	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,031,395		probably null	Het
Fam89b	G	T	19: 5,729,369	D53E	probably benign	Het
Fig4	T	C	10: 41,267,786	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230	Y184F	probably damaging	Het
Hp	C	A	8: 109,579,021		probably benign	Het
Ilf3	A	G	9: 21,399,691	N620D	possibly damaging	Het
Jakmip3	A	C	7: 139,017,573	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,370,517	I413K	probably damaging	Het
Letm1	A	T	5: 33,762,590	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,135	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,827,526		probably benign	Het
Mcidas	T	A	13: 112,997,585		probably benign	Het
Mme	A	G	3: 63,327,860		probably null	Het
Mrc1	T	C	2: 14,328,425	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 4,030,716	Q473K	probably damaging	Het
Muc6	A	T	7: 141,648,066	C719*	probably null	Het
Nsun7	T	C	5: 66,283,601	I355T	possibly damaging	Het
Padi6	A	G	4: 140,729,003	L560P	probably damaging	Het
Parl	C	A	16: 20,282,790	A285S	possibly damaging	Het
Pclo	A	T	5: 14,793,834	M4795L	unknown	Het
Polr2f	A	G	15: 79,146,129	Y56C	probably damaging	Het
Rasgrp2	A	T	19: 6,404,383	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,284,227	D44G	probably benign	Het
Slc25a16	A	G	10: 62,944,433		probably null	Het
Snrnp200	G	A	2: 127,232,472	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,625,065	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,201,959		probably null	Het
Tcf7l2	T	C	19: 55,919,627		probably benign	Het
Tnrc6c	G	T	11: 117,722,029	V498L	probably benign	Het
Tymp	G	A	15: 89,376,310	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,535,497	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,839,956	I41T	probably damaging	Het

Other mutations in Igsf9b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Igsf9b	APN	9	27319655	missense	probably damaging	1.00
IGL01960:Igsf9b	APN	9	27328606	missense	possibly damaging	0.93
IGL02398:Igsf9b	APN	9	27333130	missense	possibly damaging	0.54
IGL03007:Igsf9b	APN	9	27333082	missense	probably damaging	0.98
IGL03014:Igsf9b	UTSW	9	27322636	missense	probably benign	0.00
R0127:Igsf9b	UTSW	9	27334385	missense	possibly damaging	0.65
R0376:Igsf9b	UTSW	9	27334582	missense	probably benign	0.01
R0520:Igsf9b	UTSW	9	27323250	missense	probably benign	0.00
R0534:Igsf9b	UTSW	9	27333062	intron	probably null
R0613:Igsf9b	UTSW	9	27326920	missense	probably damaging	1.00
R0718:Igsf9b	UTSW	9	27323361	critical splice donor site	probably null
R0828:Igsf9b	UTSW	9	27319605	nonsense	probably null
R0879:Igsf9b	UTSW	9	27333742	missense	probably damaging	1.00
R0882:Igsf9b	UTSW	9	27319316	missense	probably damaging	0.98
R0987:Igsf9b	UTSW	9	27332553	splice site	probably null
R1162:Igsf9b	UTSW	9	27326889	missense	probably benign
R1758:Igsf9b	UTSW	9	27334252	missense	possibly damaging	0.50
R1760:Igsf9b	UTSW	9	27317827	missense	possibly damaging	0.82
R1819:Igsf9b	UTSW	9	27311593	missense	probably damaging	0.98
R1823:Igsf9b	UTSW	9	27331732	missense	probably damaging	0.96
R1982:Igsf9b	UTSW	9	27322239	missense	possibly damaging	0.82
R2150:Igsf9b	UTSW	9	27334337	missense	probably damaging	1.00
R2228:Igsf9b	UTSW	9	27333496	missense	probably damaging	1.00
R2229:Igsf9b	UTSW	9	27333496	missense	probably damaging	1.00
R2250:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R2872:Igsf9b	UTSW	9	27322223	missense	probably benign	0.11
R2872:Igsf9b	UTSW	9	27322223	missense	probably benign	0.11
R3415:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R3416:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R3417:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R3427:Igsf9b	UTSW	9	27334577	missense	probably damaging	0.99
R4356:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R4357:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R4358:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R4359:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R4379:Igsf9b	UTSW	9	27309478	missense	possibly damaging	0.95
R4416:Igsf9b	UTSW	9	27322917	missense	probably damaging	1.00
R4445:Igsf9b	UTSW	9	27334252	missense	probably benign	0.13
R4446:Igsf9b	UTSW	9	27334252	missense	probably benign	0.13
R4787:Igsf9b	UTSW	9	27317456	missense	probably benign	0.26
R4887:Igsf9b	UTSW	9	27322650	missense	probably benign	0.45
R5085:Igsf9b	UTSW	9	27317437	missense	probably benign	0.03
R5360:Igsf9b	UTSW	9	27311672	missense	probably damaging	0.98
R5417:Igsf9b	UTSW	9	27334276	small insertion	probably benign
R5686:Igsf9b	UTSW	9	27324179	missense	probably damaging	0.99
R5738:Igsf9b	UTSW	9	27328530	missense	probably damaging	0.98
R5869:Igsf9b	UTSW	9	27323235	missense	probably benign	0.44
R6304:Igsf9b	UTSW	9	27342575	missense	probably benign	0.19
R6359:Igsf9b	UTSW	9	27309599	missense	probably benign	0.25
R6367:Igsf9b	UTSW	9	27309525	nonsense	probably null
R6556:Igsf9b	UTSW	9	27329555	missense	probably damaging	1.00
R7058:Igsf9b	UTSW	9	27322854	missense	probably damaging	0.99
R7165:Igsf9b	UTSW	9	27334240	missense	probably benign
R7180:Igsf9b	UTSW	9	27322668	missense	possibly damaging	0.95
R7212:Igsf9b	UTSW	9	27331696	missense	probably damaging	0.98
R7461:Igsf9b	UTSW	9	27334122	missense	probably benign	0.10
R7605:Igsf9b	UTSW	9	27323312	missense	probably damaging	0.98
R7609:Igsf9b	UTSW	9	27345890	missense	probably benign
R7613:Igsf9b	UTSW	9	27334122	missense	probably benign	0.10
X0013:Igsf9b	UTSW	9	27331725	missense	possibly damaging	0.89
X0025:Igsf9b	UTSW	9	27309461	missense	probably damaging	1.00
X0028:Igsf9b	UTSW	9	27334372	missense	probably damaging	1.00

Posted On

2013-06-28