Mutagenetix > Incidental Mutation

Incidental Mutation 'R1573:Igsf1'

171011

Institutional Source

Beutler Lab

Gene Symbol

Igsf1

Ensembl Gene

ENSMUSG00000031111

Gene Name

immunoglobulin superfamily, member 1

Synonyms

MMRRC Submission

039612-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1573 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

48871413-48886626 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48880863 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 251 (R251G)

Ref Sequence

ENSEMBL: ENSMUSP00000071919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033442] [ENSMUST00000072037] [ENSMUST00000114891] [ENSMUST00000114893]

AlphaFold

Q7TQA1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033442
AA Change: R251G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033442
Gene: ENSMUSG00000031111
AA Change: R251G

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

possibly damaging
Transcript: ENSMUST00000072037
AA Change: R251G

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071919
Gene: ENSMUSG00000031111
AA Change: R251G

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 benign
Transcript: ENSMUST00000114891

SMART Domains

Protein: ENSMUSP00000110541
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

Predicted Effect

probably benign
Transcript: ENSMUST00000114893

SMART Domains

Protein: ENSMUSP00000110543
Gene: ENSMUSG00000031111

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135492

Meta Mutation Damage Score

0.4914

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.1%

Validation Efficiency

98% (90/92)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,004,445 (GRCm39)		probably benign	Het
Add1	C	G	5: 34,758,740 (GRCm39)	A18G	possibly damaging	Het
Alk	T	C	17: 72,910,113 (GRCm39)	K198E	possibly damaging	Het
Angptl1	T	A	1: 156,684,740 (GRCm39)	L303Q	possibly damaging	Het
Aox1	A	T	1: 58,348,186 (GRCm39)	I635L	probably benign	Het
Atp5mk	T	A	19: 47,074,634 (GRCm39)	Q9L	possibly damaging	Het
Atp8a2	G	T	14: 60,097,655 (GRCm39)	T791K	probably benign	Het
Auts2	T	C	5: 131,469,325 (GRCm39)	K664R	probably damaging	Het
Birc6	T	A	17: 74,967,685 (GRCm39)		probably benign	Het
Cacna1i	C	A	15: 80,277,869 (GRCm39)		probably null	Het
Cacna2d1	T	C	5: 16,575,625 (GRCm39)	F1077L	probably damaging	Het
Camkk1	C	T	11: 72,918,307 (GRCm39)	R52C	probably damaging	Het
Camkmt	T	A	17: 85,403,958 (GRCm39)	V60E	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cbr2	A	T	11: 120,622,791 (GRCm39)	L3Q	possibly damaging	Het
Ccar1	A	T	10: 62,586,434 (GRCm39)	D920E	unknown	Het
Cdc20b	A	G	13: 113,192,478 (GRCm39)	N57S	probably benign	Het
Cep83	G	A	10: 94,624,525 (GRCm39)	E601K	probably damaging	Het
Cldn10	A	T	14: 119,111,080 (GRCm39)	I176L	probably benign	Het
Cpeb2	T	C	5: 43,441,273 (GRCm39)		probably benign	Het
Crb1	A	G	1: 139,265,344 (GRCm39)	S25P	probably damaging	Het
Cyp3a59	A	T	5: 146,039,684 (GRCm39)	Y319F	probably damaging	Het
Dst	C	T	1: 34,240,312 (GRCm39)	S1561F	probably damaging	Het
Dxo	C	T	17: 35,057,270 (GRCm39)	R221C	probably damaging	Het
Dynlt4	A	T	4: 116,985,191 (GRCm39)	T5S	probably benign	Het
Epc2	A	G	2: 49,439,984 (GRCm39)	T801A	possibly damaging	Het
Fndc3a	C	A	14: 72,806,384 (GRCm39)	C373F	probably damaging	Het
Frmpd1	T	C	4: 45,283,932 (GRCm39)	S918P	probably benign	Het
Fuca2	A	G	10: 13,381,587 (GRCm39)	T84A	possibly damaging	Het
Garin4	G	A	1: 190,896,682 (GRCm39)		probably benign	Het
Gmeb1	A	T	4: 131,979,051 (GRCm39)	N21K	probably benign	Het
Htt	T	C	5: 35,021,718 (GRCm39)		probably benign	Het
Itih4	A	T	14: 30,619,504 (GRCm39)	H720L	probably benign	Het
Kank4	A	T	4: 98,663,073 (GRCm39)	L705*	probably null	Het
Krt34	A	T	11: 99,931,854 (GRCm39)	S122T	probably benign	Het
L1td1	A	G	4: 98,625,517 (GRCm39)	T571A	probably benign	Het
Lag3	T	C	6: 124,886,210 (GRCm39)	T248A	possibly damaging	Het
Lgi1	T	A	19: 38,272,629 (GRCm39)	H133Q	probably benign	Het
Map1a	A	T	2: 121,134,607 (GRCm39)	T1808S	probably benign	Het
Mcm9	T	C	10: 53,424,752 (GRCm39)	T613A	probably damaging	Het
Meaf6	A	G	4: 124,983,931 (GRCm39)	I111V	probably benign	Het
Mki67	G	A	7: 135,296,845 (GRCm39)	P2730S	possibly damaging	Het
Mlc1	A	C	15: 88,842,350 (GRCm39)	C337G	probably damaging	Het
Mrc2	T	A	11: 105,227,482 (GRCm39)	Y572N	probably damaging	Het
Mterf3	T	C	13: 67,070,967 (GRCm39)	N172S	possibly damaging	Het
Or3a1c	T	A	11: 74,046,196 (GRCm39)	M72K	probably benign	Het
Or4b1	A	T	2: 89,979,068 (GRCm39)		probably benign	Het
Or4c115	T	A	2: 88,928,064 (GRCm39)	D69V	probably damaging	Het
Or5ak4	A	T	2: 85,161,687 (GRCm39)	L185H	probably damaging	Het
Or6c6c	T	C	10: 129,541,487 (GRCm39)	S247P	probably damaging	Het
Padi4	T	G	4: 140,484,881 (GRCm39)	T327P	possibly damaging	Het
Pga5	T	A	19: 10,651,201 (GRCm39)	I151F	probably benign	Het
Pkdrej	G	T	15: 85,702,275 (GRCm39)	D1220E	probably benign	Het
Prokr2	T	A	2: 132,215,684 (GRCm39)	Q259L	probably damaging	Het
Ptbp2	C	A	3: 119,546,754 (GRCm39)	D43Y	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ralgps2	C	T	1: 156,660,500 (GRCm39)	R237Q	possibly damaging	Het
Rap1gds1	C	A	3: 138,671,624 (GRCm39)		probably null	Het
Saa2	T	A	7: 46,401,716 (GRCm39)	M1K	probably null	Het
Samd9l	T	C	6: 3,375,426 (GRCm39)	I612V	probably damaging	Het
Scn10a	C	T	9: 119,442,692 (GRCm39)	V1518I	probably benign	Het
Serpina6	T	C	12: 103,618,012 (GRCm39)	D267G	probably damaging	Het
Sh2d4b	A	G	14: 40,564,329 (GRCm39)		probably null	Het
Sh3bp2	T	C	5: 34,718,034 (GRCm39)	V505A	probably benign	Het
Smad2	A	G	18: 76,395,657 (GRCm39)	E32G	possibly damaging	Het
Smn1	T	G	13: 100,263,118 (GRCm39)	D32E	probably damaging	Het
Spata31d1c	T	C	13: 65,182,883 (GRCm39)	S142P	possibly damaging	Het
Stk39	A	T	2: 68,221,293 (GRCm39)	I210N	probably damaging	Het
Tcte2	A	G	17: 13,937,899 (GRCm39)		probably benign	Het
Tctn3	C	A	19: 40,597,361 (GRCm39)	E230*	probably null	Het
Tenm2	A	T	11: 35,937,896 (GRCm39)	H1592Q	probably damaging	Het
Tescl	A	G	7: 24,032,668 (GRCm39)	V219A	probably damaging	Het
Tgm6	C	T	2: 129,993,660 (GRCm39)	S633L	probably benign	Het
Tmcc1	C	T	6: 116,110,924 (GRCm39)	S123N	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ulk2	G	A	11: 61,670,581 (GRCm39)	R992C	probably damaging	Het
Vwa5b1	G	A	4: 138,332,184 (GRCm39)	H278Y	probably damaging	Het
Wwp2	C	T	8: 108,275,121 (GRCm39)	R373W	probably damaging	Het
Zfp24	A	T	18: 24,150,399 (GRCm39)	D170E	possibly damaging	Het
Zfp808	T	C	13: 62,319,311 (GRCm39)	I180T	possibly damaging	Het
Zfp820	T	A	17: 22,037,737 (GRCm39)	Q530H	probably benign	Het
Zfp975	A	T	7: 42,311,507 (GRCm39)	Y369N	probably benign	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
R1422:Igsf1	UTSW	X	48,871,813 (GRCm39)	nonsense	probably null
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'- ACTAAGCAGAGAGCCCCTGTATGAC -3'
(R):5'- GGCAAGCTCACAGTGGAGCTAATAG -3'

Sequencing Primer
(F):5'- GCCCCTGTATGACCCATCATAG -3'
(R):5'- CGGAAGAAACGTGTCCTTG -3'

Posted On

2014-04-13