Mutagenetix > Incidental Mutation

Incidental Mutation 'R1422:Igsf1'

161152

Institutional Source

Beutler Lab

Gene Symbol

Igsf1

Ensembl Gene

ENSMUSG00000031111

Gene Name

immunoglobulin superfamily, member 1

Synonyms

MMRRC Submission

039478-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1422 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

48871413-48886626 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 48871813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 737 (G737*)

Ref Sequence

ENSEMBL: ENSMUSP00000110543 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033442] [ENSMUST00000072037] [ENSMUST00000114893]

AlphaFold

Q7TQA1

Predicted Effect

probably null
Transcript: ENSMUST00000033442
AA Change: G1279*

SMART Domains

Protein: ENSMUSP00000033442
Gene: ENSMUSG00000031111
AA Change: G1279*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	33	113	2.88e1	SMART
IG_like	127	212	1.02e1	SMART
IG	223	307	4.15e0	SMART
IGc2	324	389	2.21e-5	SMART
IG_like	413	472	1.7e0	SMART
transmembrane domain	501	520	N/A	INTRINSIC
transmembrane domain	532	551	N/A	INTRINSIC
SCOP:d1nkr_2	571	661	2e-9	SMART
IG_like	675	738	4.32e-1	SMART
IG	765	850	6.16e-4	SMART
IG	861	946	1.55e0	SMART
IG_like	957	1042	2.27e1	SMART
IG	1053	1138	4.93e-3	SMART
IG_like	1155	1214	6.67e-1	SMART
transmembrane domain	1243	1262	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072037

SMART Domains

Protein: ENSMUSP00000071919
Gene: ENSMUSG00000031111

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
IG_like	33	113	2.88e1	SMART
IG_like	127	212	1.02e1	SMART
IG	223	307	4.15e0	SMART
IGc2	324	389	2.21e-5	SMART
IG_like	413	472	1.7e0	SMART
transmembrane domain	501	520	N/A	INTRINSIC
transmembrane domain	532	551	N/A	INTRINSIC
Pfam:Ig_2	572	659	4.5e-5	PFAM
IG_like	675	738	4.32e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114893
AA Change: G737*

SMART Domains

Protein: ENSMUSP00000110543
Gene: ENSMUSG00000031111
AA Change: G737*

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Ig_2	30	117	9.3e-5	PFAM
IG_like	133	196	4.32e-1	SMART
IG	223	308	6.16e-4	SMART
IG	319	404	1.55e0	SMART
IG_like	415	500	2.27e1	SMART
IG	511	596	4.93e-3	SMART
IG_like	613	672	6.67e-1	SMART
transmembrane domain	701	720	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.6%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]
PHENOTYPE: Females homozygous for disruptions of this gene show no obvious phenotypic change. Hemizygous males show hypothyroidism and increased body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700062C07Rik	A	G	18: 24,610,333 (GRCm39)	T170A	probably benign	Het
Arhgap5	T	A	12: 52,566,297 (GRCm39)	D1089E	probably damaging	Het
Atrn	T	C	2: 130,799,834 (GRCm39)	Y404H	probably damaging	Het
Becn1	T	C	11: 101,185,952 (GRCm39)	D98G	possibly damaging	Het
Coro2b	A	G	9: 62,336,229 (GRCm39)		probably null	Het
Cpne4	T	C	9: 104,777,484 (GRCm39)	I143T	probably damaging	Het
Cr2	A	G	1: 194,853,433 (GRCm39)	I35T	probably benign	Het
Ctns	T	C	11: 73,076,072 (GRCm39)	Y321C	probably damaging	Het
Cyp4f16	A	T	17: 32,761,973 (GRCm39)	M174L	probably damaging	Het
Dpy19l4	T	C	4: 11,317,168 (GRCm39)	E10G	possibly damaging	Het
Dtx3	T	A	10: 127,027,158 (GRCm39)	I339F	possibly damaging	Het
Fam184a	A	T	10: 53,551,304 (GRCm39)	M625K	probably benign	Het
Fgd6	A	G	10: 93,881,234 (GRCm39)	E696G	probably damaging	Het
Gm17535	A	G	9: 3,035,804 (GRCm39)	Y224C	probably null	Het
Gria1	T	A	11: 57,080,614 (GRCm39)	L199Q	probably benign	Het
Hk1	T	C	10: 62,131,873 (GRCm39)	D184G	probably null	Het
Ift88	T	C	14: 57,675,758 (GRCm39)		probably benign	Het
Ift88	G	A	14: 57,710,436 (GRCm39)	V403M	probably damaging	Het
Kif19a	A	G	11: 114,676,635 (GRCm39)	D488G	probably benign	Het
Lpcat2	T	C	8: 93,606,045 (GRCm39)	L232P	probably damaging	Het
Ly9	A	G	1: 171,428,780 (GRCm39)	V280A	probably damaging	Het
Macrod2	T	A	2: 140,261,861 (GRCm39)		probably null	Het
Mmp1a	A	G	9: 7,464,298 (GRCm39)		probably null	Het
Mmrn2	A	G	14: 34,118,196 (GRCm39)	H80R	probably damaging	Het
Or2b4	T	C	17: 38,116,254 (GRCm39)	Y73H	probably damaging	Het
Or51f23	G	A	7: 102,453,057 (GRCm39)	R124H	probably benign	Het
Or5l13	G	A	2: 87,780,439 (GRCm39)	T46I	probably benign	Het
Pkd1l3	C	A	8: 110,348,340 (GRCm39)	P194H	unknown	Het
Plk2	A	G	13: 110,536,023 (GRCm39)	M576V	probably damaging	Het
Pms2	T	A	5: 143,850,523 (GRCm39)	S113T	probably damaging	Het
Ptprk	A	G	10: 28,351,276 (GRCm39)	I590V	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rad17	A	G	13: 100,781,590 (GRCm39)	L69P	probably benign	Het
Rmc1	G	A	18: 12,314,680 (GRCm39)	D87N	probably damaging	Het
Robo2	G	A	16: 73,775,336 (GRCm39)	T466M	probably damaging	Het
Sema6a	A	G	18: 47,439,498 (GRCm39)	C9R	probably benign	Het
Slc6a19	A	G	13: 73,833,988 (GRCm39)	S357P	probably benign	Het
Spata31e2	C	G	1: 26,721,547 (GRCm39)	S1211T	possibly damaging	Het
Spock3	T	C	8: 63,597,023 (GRCm39)	I109T	possibly damaging	Het
Svs6	T	C	2: 164,159,580 (GRCm39)		probably null	Het
Tenm4	A	T	7: 96,199,258 (GRCm39)	D17V	probably damaging	Het
Trp53bp2	T	A	1: 182,274,029 (GRCm39)	M558K	probably benign	Het
Ttn	T	C	2: 76,572,014 (GRCm39)	E26293G	probably damaging	Het
Vmn1r29	A	G	6: 58,284,871 (GRCm39)	Y197C	probably damaging	Het
Wdfy3	A	T	5: 102,032,080 (GRCm39)		probably benign	Het
Zfp366	A	G	13: 99,365,804 (GRCm39)	K322E	probably damaging	Het

Other mutations in Igsf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02223:Igsf1	APN	X	48,873,897 (GRCm39)	missense	probably damaging	0.99
IGL03338:Igsf1	APN	X	48,876,376 (GRCm39)	missense	probably benign	0.17
R1573:Igsf1	UTSW	X	48,880,863 (GRCm39)	missense	possibly damaging	0.68
R2191:Igsf1	UTSW	X	48,872,027 (GRCm39)	missense	probably damaging	1.00
R4510:Igsf1	UTSW	X	48,875,050 (GRCm39)	missense	probably damaging	1.00
R4511:Igsf1	UTSW	X	48,875,050 (GRCm39)	missense	probably damaging	1.00
R9111:Igsf1	UTSW	X	48,875,736 (GRCm39)	missense	probably null	0.99
R9263:Igsf1	UTSW	X	48,884,191 (GRCm39)	missense	possibly damaging	0.92
R9265:Igsf1	UTSW	X	48,884,191 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- ACAGCTTGACCTGTAGAGCTTGC -3'
(R):5'- TCCGAAGTACCCTGATTGTGGTGG -3'

Sequencing Primer
(F):5'- TGACCCAACTCAAGTGGTTAG -3'
(R):5'- AAGAAGTGGCCTCGACTTCG -3'

Posted On

2014-03-14