Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.069) 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 (GRCm38)

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]

AlphaFold

Q7TNR6

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 (GRCm38)	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277 (GRCm38)	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146 (GRCm38)	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540 (GRCm38)	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016 (GRCm38)		probably benign	Het
Bpnt1	T	C	1: 185,353,994 (GRCm38)	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058 (GRCm38)	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443 (GRCm38)	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387 (GRCm38)	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071 (GRCm38)	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302 (GRCm38)		probably benign	Het
Cyp2b19	C	T	7: 26,763,461 (GRCm38)	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713 (GRCm38)	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270 (GRCm38)	V108A	probably benign	Het
Emb	T	A	13: 117,272,078 (GRCm38)	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939 (GRCm38)	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595 (GRCm38)	H380P	possibly damaging	Het
Gm9747	G	A	1: 82,234,088 (GRCm38)		probably benign	Het
Golga1	A	G	2: 39,020,126 (GRCm38)	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278 (GRCm38)	V411A	probably benign	Het
Ints11	T	C	4: 155,885,198 (GRCm38)		probably null	Het
Jakmip1	G	T	5: 37,100,768 (GRCm38)	A253S	probably damaging	Het
Met	A	G	6: 17,540,577 (GRCm38)	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158 (GRCm38)	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344 (GRCm38)	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710 (GRCm38)	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273 (GRCm38)		probably benign	Het
Ndufaf7	A	G	17: 78,937,502 (GRCm38)	I17V	probably benign	Het
Or4a47	T	C	2: 89,835,808 (GRCm38)	T46A	probably damaging	Het
Or5ak22	C	T	2: 85,400,171 (GRCm38)	D121N	probably damaging	Het
Or5h25	A	T	16: 59,109,921 (GRCm38)	S230T	probably damaging	Het
Or6c6c	A	G	10: 129,705,623 (GRCm38)	I248M	probably benign	Het
Or7g18	T	A	9: 18,875,321 (GRCm38)		probably benign	Het
Or8b50	A	G	9: 38,606,554 (GRCm38)	I30V	probably null	Het
Or8k1	T	G	2: 86,217,161 (GRCm38)	D183A	probably damaging	Het
Ppef2	T	C	5: 92,235,820 (GRCm38)	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900 (GRCm38)		probably benign	Het
Scn1a	C	A	2: 66,285,937 (GRCm38)	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937 (GRCm38)	V322I	probably benign	Het
Slco1a7	G	T	6: 141,713,214 (GRCm38)	T552K	possibly damaging	Het
Spta1	G	A	1: 174,208,394 (GRCm38)	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620 (GRCm38)	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183 (GRCm38)	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964 (GRCm38)	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576 (GRCm38)	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067 (GRCm38)	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559 (GRCm38)	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880 (GRCm38)	M745V	probably benign	Het

Other mutations in Igsf21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Igsf21	APN	4	140,027,718 (GRCm38)	splice site	probably benign
IGL01618:Igsf21	APN	4	140,107,364 (GRCm38)	missense	possibly damaging	0.75
R1458:Igsf21	UTSW	4	140,028,124 (GRCm38)	missense	probably damaging	1.00
R1464:Igsf21	UTSW	4	140,034,525 (GRCm38)	missense	probably benign
R1464:Igsf21	UTSW	4	140,034,525 (GRCm38)	missense	probably benign
R1793:Igsf21	UTSW	4	140,034,392 (GRCm38)	missense	probably damaging	1.00
R1913:Igsf21	UTSW	4	140,107,312 (GRCm38)	missense	probably benign
R2220:Igsf21	UTSW	4	140,028,114 (GRCm38)	missense	probably damaging	1.00
R4013:Igsf21	UTSW	4	140,037,469 (GRCm38)	missense	possibly damaging	0.92
R4721:Igsf21	UTSW	4	140,107,310 (GRCm38)	missense	probably benign	0.09
R4911:Igsf21	UTSW	4	140,034,623 (GRCm38)	missense	probably benign	0.01
R5157:Igsf21	UTSW	4	140,028,067 (GRCm38)	missense	possibly damaging	0.53
R5725:Igsf21	UTSW	4	140,034,743 (GRCm38)	missense	probably benign	0.02
R5778:Igsf21	UTSW	4	140,037,521 (GRCm38)	missense	probably benign	0.28
R5804:Igsf21	UTSW	4	140,028,074 (GRCm38)	missense	possibly damaging	0.70
R6140:Igsf21	UTSW	4	140,107,373 (GRCm38)	missense	probably benign	0.10
R6778:Igsf21	UTSW	4	140,034,648 (GRCm38)	missense	probably benign	0.05
R6888:Igsf21	UTSW	4	140,034,743 (GRCm38)	missense	probably benign	0.02
R6963:Igsf21	UTSW	4	140,027,730 (GRCm38)	missense	probably benign	0.02
R7203:Igsf21	UTSW	4	140,107,337 (GRCm38)	missense	possibly damaging	0.70
R7485:Igsf21	UTSW	4	140,027,738 (GRCm38)	missense	probably benign	0.09
R7880:Igsf21	UTSW	4	140,157,508 (GRCm38)	missense	probably damaging	1.00
R7934:Igsf21	UTSW	4	140,034,444 (GRCm38)	missense	possibly damaging	0.83
R8175:Igsf21	UTSW	4	140,028,231 (GRCm38)	missense	probably damaging	1.00
R9035:Igsf21	UTSW	4	140,157,471 (GRCm38)	missense	probably damaging	1.00
R9190:Igsf21	UTSW	4	140,028,717 (GRCm38)	missense	probably damaging	1.00
R9197:Igsf21	UTSW	4	140,034,773 (GRCm38)	missense	probably benign	0.01
R9325:Igsf21	UTSW	4	140,067,155 (GRCm38)	missense	probably damaging	0.98
R9398:Igsf21	UTSW	4	140,246,451 (GRCm38)	start gained	probably benign
R9556:Igsf21	UTSW	4	140,034,703 (GRCm38)	missense	probably damaging	1.00
R9777:Igsf21	UTSW	4	140,028,096 (GRCm38)	missense	probably damaging	1.00
Z1176:Igsf21	UTSW	4	140,067,215 (GRCm38)	missense	probably damaging	1.00

Posted On

2015-04-16