Mutagenetix > Incidental Mutation

Incidental Mutation 'R6388:Iglon5'

515635

Institutional Source

Beutler Lab

Gene Symbol

Iglon5

Ensembl Gene

ENSMUSG00000013367

Gene Name

IgLON family member 5

Synonyms

A230106M20Rik

MMRRC Submission

044537-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6388 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43122328-43139499 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43127556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 165 (T165A)

Ref Sequence

ENSEMBL: ENSMUSP00000103608 (fasta)

Gene Model

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

AlphaFold

Q8HW98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107974
AA Change: T165A

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103608
Gene: ENSMUSG00000013367
AA Change: T165A

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

unknown
Transcript: ENSMUST00000206336
AA Change: T34A

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 96.8%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,410,230 (GRCm39)	R560W	probably benign	Het
Abi3	A	G	11: 95,724,464 (GRCm39)		probably null	Het
Ap1b1	T	C	11: 4,976,319 (GRCm39)	I449T	probably damaging	Het
Atpaf2	C	A	11: 60,307,833 (GRCm39)		probably benign	Het
Car5a	T	C	8: 122,653,910 (GRCm39)	Y118C	probably damaging	Het
Ccdc18	A	G	5: 108,349,214 (GRCm39)	D1002G	possibly damaging	Het
Ciao1	A	T	2: 127,088,396 (GRCm39)	C142*	probably null	Het
Clec14a	A	G	12: 58,314,243 (GRCm39)	*460R	probably null	Het
Defb30	T	A	14: 63,287,213 (GRCm39)		probably benign	Het
Dnah10	A	G	5: 124,906,710 (GRCm39)	K4247R	probably benign	Het
Eif5b	G	A	1: 38,058,081 (GRCm39)	A128T	unknown	Het
Fam3b	T	C	16: 97,279,591 (GRCm39)	T113A	probably benign	Het
Fam98c	C	T	7: 28,854,728 (GRCm39)	R126Q	probably damaging	Het
Fastkd3	C	T	13: 68,738,319 (GRCm39)	L623F	probably damaging	Het
Golga1	T	C	2: 38,913,183 (GRCm39)	D543G	probably benign	Het
Gpatch8	A	T	11: 102,369,314 (GRCm39)	V1408E	probably damaging	Het
Icosl	T	A	10: 77,905,366 (GRCm39)	L3Q	possibly damaging	Homo
Igf2r	A	G	17: 12,902,787 (GRCm39)	V2421A	probably benign	Het
Map3k11	A	G	19: 5,740,279 (GRCm39)	E2G	probably damaging	Het
Nipbl	A	T	15: 8,330,268 (GRCm39)	C2386S	probably damaging	Het
Nos1	A	G	5: 118,052,501 (GRCm39)	E837G	possibly damaging	Het
Npc1l1	T	C	11: 6,174,145 (GRCm39)	E720G	probably damaging	Het
Or1e35	A	G	11: 73,798,118 (GRCm39)	S67P	probably damaging	Het
Pla1a	T	A	16: 38,217,834 (GRCm39)	M385L	probably benign	Het
Saxo4	A	G	19: 10,459,665 (GRCm39)	V14A	probably damaging	Het
Setdb2	T	C	14: 59,662,146 (GRCm39)	T82A	probably benign	Het
Smarcd3	A	G	5: 24,801,024 (GRCm39)	F128L	possibly damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Syvn1	T	A	19: 6,102,381 (GRCm39)	V483E	probably damaging	Het
Timm22	G	A	11: 76,297,945 (GRCm39)	V19I	probably benign	Het
Ttn	C	A	2: 76,621,189 (GRCm39)	D15716Y	probably damaging	Het
Ube3a	C	T	7: 58,954,669 (GRCm39)		probably null	Het
Ugp2	A	G	11: 21,272,051 (GRCm39)		probably null	Het
Vmn1r13	T	A	6: 57,186,903 (GRCm39)	F21I	probably benign	Het
Vps13d	T	C	4: 144,882,144 (GRCm39)	S1150G	probably benign	Het
Zp3	T	C	5: 136,011,548 (GRCm39)	V122A	probably benign	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
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
R7020:Iglon5	UTSW	7	43,126,319 (GRCm39)	missense	probably damaging	1.00
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'- CTCATTTGCAGCCTGACTCAG -3'
(R):5'- CCATGCTCTTGGGTCTGAAAC -3'

Sequencing Primer
(F):5'- CTGTCAGGTGGAGGGAAGCTC -3'
(R):5'- AAACCTGTGCAGCTTAGGTC -3'

Posted On

2018-05-04