Mutagenetix > Incidental Mutation

Incidental Mutation 'R7020:Iglon5'

545568

Institutional Source

Beutler Lab

Gene Symbol

Iglon5

Ensembl Gene

ENSMUSG00000013367

Gene Name

IgLON family member 5

Synonyms

A230106M20Rik

MMRRC Submission

045121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43122328-43139499 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43126319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 195 (C195S)

Ref Sequence

ENSEMBL: ENSMUSP00000103608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107974] [ENSMUST00000107977]

AlphaFold

Q8HW98

Predicted Effect

probably damaging
Transcript: ENSMUST00000107974
AA Change: C195S

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

SMART Domains

Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
AA Change: C195S

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IG	39	130	1.7e-6	SMART
IGc2	145	202	4.45e-10	SMART
IGc2	229	298	1.69e-10	SMART
low complexity region	323	334	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107977

SMART Domains

Protein: ENSMUSP00000103611
Gene: ENSMUSG00000070604

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
IG	183	285	1.92e0	SMART
IG	298	383	2.15e-3	SMART
IGc2	406	465	4.19e-6	SMART
Blast:IG_like	582	649	1e-13	BLAST
transmembrane domain	764	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206336

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,634,975 (GRCm39)	G188R	probably damaging	Het
Abhd3	T	C	18: 10,645,127 (GRCm39)	Y384C	probably damaging	Het
Cd209b	T	A	8: 3,968,783 (GRCm39)	E282V	probably damaging	Het
Cep350	A	C	1: 155,804,077 (GRCm39)	L1002W	probably damaging	Het
Clcn1	T	C	6: 42,275,754 (GRCm39)	V292A	probably damaging	Het
Clcn7	T	C	17: 25,365,325 (GRCm39)	I107T	possibly damaging	Het
Cntrob	A	G	11: 69,193,918 (GRCm39)		probably null	Het
Crb1	A	T	1: 139,159,341 (GRCm39)	S1294T	possibly damaging	Het
Cst13	T	G	2: 148,665,129 (GRCm39)	Y41*	probably null	Het
Gp1ba	A	G	11: 70,531,139 (GRCm39)		probably benign	Het
Gucy2e	A	T	11: 69,123,619 (GRCm39)	L427I	probably benign	Het
Gucy2g	A	G	19: 55,221,482 (GRCm39)	S340P	probably damaging	Het
Herc1	A	G	9: 66,393,360 (GRCm39)	T4080A	probably benign	Het
Itgae	A	G	11: 73,002,195 (GRCm39)	T100A	probably damaging	Het
Jarid2	C	T	13: 45,038,300 (GRCm39)	S205L	probably damaging	Het
Macrod2	A	T	2: 142,231,795 (GRCm39)	*424C	probably null	Het
Map2k6	A	T	11: 110,397,540 (GRCm39)		probably benign	Het
Muc4	A	T	16: 32,570,628 (GRCm39)	K563*	probably null	Het
Myh7b	T	C	2: 155,473,671 (GRCm39)	I1568T	possibly damaging	Het
Myo15b	G	A	11: 115,757,493 (GRCm39)	W1114*	probably null	Het
Mypn	T	C	10: 63,028,289 (GRCm39)	Y258C	probably damaging	Het
Notch1	T	C	2: 26,371,586 (GRCm39)	T288A	possibly damaging	Het
Npc1	C	T	18: 12,331,594 (GRCm39)	G859R	probably damaging	Het
Olfm2	T	A	9: 20,579,864 (GRCm39)	R326W	probably damaging	Het
Or2a7	T	C	6: 43,151,096 (GRCm39)	Y59H	possibly damaging	Het
Or5al7	A	G	2: 85,992,363 (GRCm39)	I310T	probably benign	Het
Or5g23	A	G	2: 85,438,976 (GRCm39)	S93P	probably benign	Het
Ovol1	G	A	19: 5,610,261 (GRCm39)	P23L	probably damaging	Het
Pappa2	C	A	1: 158,675,579 (GRCm39)	V1056F	probably damaging	Het
Pik3ca	T	C	3: 32,490,428 (GRCm39)	L25S	probably damaging	Het
Pla2r1	T	C	2: 60,277,743 (GRCm39)	H860R	possibly damaging	Het
Pms1	A	T	1: 53,228,541 (GRCm39)	H902Q	probably damaging	Het
Ptgs1	T	G	2: 36,141,041 (GRCm39)	L496R	probably damaging	Het
Ralgapa2	A	T	2: 146,188,638 (GRCm39)	Y1381*	probably null	Het
Rtl1	T	C	12: 109,558,749 (GRCm39)	Q1030R	possibly damaging	Het
Ryr3	T	A	2: 112,583,423 (GRCm39)	Y2816F	probably benign	Het
Sh2b2	T	C	5: 136,253,153 (GRCm39)	T340A	possibly damaging	Het
Slc30a5	T	A	13: 100,961,421 (GRCm39)		probably null	Het
Spta1	T	C	1: 174,036,918 (GRCm39)	L1143P	probably damaging	Het
St8sia5	T	C	18: 77,333,876 (GRCm39)	I178T	probably damaging	Het
Tap2	A	G	17: 34,433,388 (GRCm39)	N517S	possibly damaging	Het
Tcp11	A	G	17: 28,290,679 (GRCm39)	Y227H	possibly damaging	Het
Usp34	A	G	11: 23,343,954 (GRCm39)	D1411G	probably benign	Het
Vmn2r105	A	G	17: 20,429,336 (GRCm39)	L580P	probably damaging	Het
Wdr19	A	G	5: 65,413,657 (GRCm39)	E1200G	probably damaging	Het
Xirp2	T	C	2: 67,355,913 (GRCm39)	V3558A	probably benign	Het
Xpo7	T	C	14: 70,903,463 (GRCm39)	N1082S	probably benign	Het
Zbtb49	A	T	5: 38,370,711 (GRCm39)	L390*	probably null	Het
Zfp639	C	A	3: 32,574,261 (GRCm39)	D295E	probably damaging	Het

Other mutations in Iglon5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01748:Iglon5	APN	7	43,125,953 (GRCm39)	splice site	probably benign
IGL02373:Iglon5	APN	7	43,128,643 (GRCm39)	missense	probably benign	0.09
R0219:Iglon5	UTSW	7	43,126,261 (GRCm39)	missense	probably damaging	1.00
R1381:Iglon5	UTSW	7	43,126,064 (GRCm39)	missense	probably benign	0.10
R1503:Iglon5	UTSW	7	43,128,449 (GRCm39)	missense	probably benign	0.05
R1827:Iglon5	UTSW	7	43,128,545 (GRCm39)	missense	probably benign	0.01
R2233:Iglon5	UTSW	7	43,130,062 (GRCm39)	missense	probably damaging	0.98
R2234:Iglon5	UTSW	7	43,130,062 (GRCm39)	missense	probably damaging	0.98
R2235:Iglon5	UTSW	7	43,130,062 (GRCm39)	missense	probably damaging	0.98
R3772:Iglon5	UTSW	7	43,130,037 (GRCm39)	nonsense	probably null
R6388:Iglon5	UTSW	7	43,127,556 (GRCm39)	missense	possibly damaging	0.92
R7000:Iglon5	UTSW	7	43,126,254 (GRCm39)	critical splice donor site	probably null
R7015:Iglon5	UTSW	7	43,126,351 (GRCm39)	missense	probably benign	0.00
R7593:Iglon5	UTSW	7	43,126,064 (GRCm39)	missense	probably benign	0.10
R7960:Iglon5	UTSW	7	43,126,326 (GRCm39)	missense	probably benign	0.01
R8942:Iglon5	UTSW	7	43,126,315 (GRCm39)	missense	probably benign	0.12
R9153:Iglon5	UTSW	7	43,125,421 (GRCm39)	missense	possibly damaging	0.50
R9546:Iglon5	UTSW	7	43,123,891 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACTTCTGGAGTCCCATTTCAG -3'
(R):5'- AGTCCTTAGCTTAGCCCCAC -3'

Sequencing Primer
(F):5'- GGAGTCCCATTTCAGCACCC -3'
(R):5'- TCCTACTGACAGGGGCACTC -3'

Posted On

2019-05-13