Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01613:Igsf21'

278598

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Igsf21

Ensembl Gene

ENSMUSG00000040972

Gene Name

immunoglobulin superfamily, member 21

Synonyms

LOC230868

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

140026846-140246784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140107364 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 66 (G66S)

Ref Sequence

ENSEMBL: ENSMUSP00000046558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039331]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039331
AA Change: G66S

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046558
Gene: ENSMUSG00000040972
AA Change: G66S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	141	1.93e-5	SMART
IG	348	431	2.38e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which has two immunoglobulin (Ig) domains and is a member of the immunoglobulin superfamily. Proteins in this superfamily are usually found on or in cell membranes and act as receptors in immune response pathways. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal differentiation of inhibitory synapses with decreased mIPSC frequency and prepulse inhibition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Igsf21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Igsf21	APN	4	140027718	splice site	probably benign
IGL01618:Igsf21	APN	4	140107364	missense	possibly damaging	0.75
R1458:Igsf21	UTSW	4	140028124	missense	probably damaging	1.00
R1464:Igsf21	UTSW	4	140034525	missense	probably benign
R1464:Igsf21	UTSW	4	140034525	missense	probably benign
R1793:Igsf21	UTSW	4	140034392	missense	probably damaging	1.00
R1913:Igsf21	UTSW	4	140107312	missense	probably benign
R2220:Igsf21	UTSW	4	140028114	missense	probably damaging	1.00
R4013:Igsf21	UTSW	4	140037469	missense	possibly damaging	0.92
R4721:Igsf21	UTSW	4	140107310	missense	probably benign	0.09
R4911:Igsf21	UTSW	4	140034623	missense	probably benign	0.01
R5157:Igsf21	UTSW	4	140028067	missense	possibly damaging	0.53
R5725:Igsf21	UTSW	4	140034743	missense	probably benign	0.02
R5778:Igsf21	UTSW	4	140037521	missense	probably benign	0.28
R5804:Igsf21	UTSW	4	140028074	missense	possibly damaging	0.70
R6140:Igsf21	UTSW	4	140107373	missense	probably benign	0.10
R6778:Igsf21	UTSW	4	140034648	missense	probably benign	0.05
R6888:Igsf21	UTSW	4	140034743	missense	probably benign	0.02
R6963:Igsf21	UTSW	4	140027730	missense	probably benign	0.02
R7203:Igsf21	UTSW	4	140107337	missense	possibly damaging	0.70
R7485:Igsf21	UTSW	4	140027738	missense	probably benign	0.09
R7880:Igsf21	UTSW	4	140157508	missense	probably damaging	1.00
R7934:Igsf21	UTSW	4	140034444	missense	possibly damaging	0.83
R8175:Igsf21	UTSW	4	140028231	missense	probably damaging	1.00
Z1176:Igsf21	UTSW	4	140067215	missense	probably damaging	1.00

Posted On

2015-04-16