Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00962:Shld2'

28977

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shld2

Ensembl Gene

ENSMUSG00000041471

Gene Name

shieldin complex subunit 2

Synonyms

3110001K24Rik, Fam35a

Accession Numbers

Essential gene?

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

Stock #

IGL00962

Quality Score

Status

Chromosome

Chromosomal Location

33958990-34032450 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33971208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 559 (V559E)

Ref Sequence

ENSEMBL: ENSMUSP00000107548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111917] [ENSMUST00000228704]

AlphaFold

Q3UEN2

Predicted Effect

probably damaging
Transcript: ENSMUST00000111917
AA Change: V559E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: V559E

Domain	Start	End	E-Value	Type
low complexity region	66	75	N/A	INTRINSIC
low complexity region	163	177	N/A	INTRINSIC
Pfam:FAM35_C	694	866	4.6e-84	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228704
AA Change: V7E

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	T	18: 67,564,723 (GRCm39)		probably null	Het
Atp8b1	C	T	18: 64,664,515 (GRCm39)	A1218T	probably damaging	Het
AY761185	T	C	8: 21,434,611 (GRCm39)	D39G	possibly damaging	Het
Fam167a	G	A	14: 63,699,904 (GRCm39)	E155K	probably damaging	Het
Fat3	C	T	9: 15,826,815 (GRCm39)	G4379D	probably benign	Het
Fkbp10	A	G	11: 100,312,643 (GRCm39)	T300A	probably benign	Het
Gm6665	T	C	18: 31,953,204 (GRCm39)	K57R	probably benign	Het
Gnb4	T	C	3: 32,647,318 (GRCm39)	T86A	probably benign	Het
H2-Q2	A	G	17: 35,561,825 (GRCm39)	Y105C	probably damaging	Het
Ighv1-75	A	G	12: 115,797,883 (GRCm39)		probably benign	Het
Ilvbl	A	G	10: 78,419,172 (GRCm39)	T474A	possibly damaging	Het
Slc45a3	T	A	1: 131,905,265 (GRCm39)	V96D	probably damaging	Het
Tmtc3	C	T	10: 100,307,815 (GRCm39)	G201R	probably damaging	Het
Tnfsf14	G	A	17: 57,499,906 (GRCm39)	Q83*	probably null	Het
Trpm2	A	G	10: 77,779,750 (GRCm39)		probably benign	Het
Ubr5	A	T	15: 37,986,178 (GRCm39)	F2219I	probably damaging	Het
Utrn	C	T	10: 12,357,078 (GRCm39)	V2747I	possibly damaging	Het
Vcan	T	C	13: 89,810,171 (GRCm39)	N3207D	probably damaging	Het
Vmn1r35	A	G	6: 66,656,361 (GRCm39)	V103A	possibly damaging	Het
Vmn2r97	A	G	17: 19,149,490 (GRCm39)	T293A	probably damaging	Het
Wdr35	A	G	12: 9,071,726 (GRCm39)		probably benign	Het

Other mutations in Shld2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Shld2	APN	14	33,990,582 (GRCm39)	missense	probably benign	0.02
IGL01288:Shld2	APN	14	33,981,600 (GRCm39)	missense	probably benign	0.00
IGL01302:Shld2	APN	14	33,981,684 (GRCm39)	missense	probably benign	0.03
IGL01312:Shld2	APN	14	33,990,150 (GRCm39)	missense	possibly damaging	0.56
IGL01444:Shld2	APN	14	33,959,514 (GRCm39)	missense	probably damaging	1.00
IGL01633:Shld2	APN	14	33,971,136 (GRCm39)	missense	probably damaging	1.00
IGL02251:Shld2	APN	14	33,990,235 (GRCm39)	missense	probably benign	0.10
IGL02927:Shld2	APN	14	33,989,658 (GRCm39)	missense	probably damaging	1.00
IGL03183:Shld2	APN	14	33,967,143 (GRCm39)	missense	probably benign	0.02
IGL03226:Shld2	APN	14	33,990,328 (GRCm39)	missense	probably benign	0.08
R0111:Shld2	UTSW	14	33,989,686 (GRCm39)	missense	probably damaging	0.98
R1170:Shld2	UTSW	14	33,990,448 (GRCm39)	missense	possibly damaging	0.92
R1348:Shld2	UTSW	14	33,990,880 (GRCm39)	missense	probably damaging	1.00
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1467:Shld2	UTSW	14	33,990,619 (GRCm39)	missense	possibly damaging	0.92
R1538:Shld2	UTSW	14	33,990,833 (GRCm39)	missense	probably damaging	1.00
R1602:Shld2	UTSW	14	33,989,607 (GRCm39)	missense	probably damaging	1.00
R1650:Shld2	UTSW	14	33,981,574 (GRCm39)	intron	probably benign
R1777:Shld2	UTSW	14	33,990,130 (GRCm39)	missense	probably benign	0.07
R1843:Shld2	UTSW	14	33,989,760 (GRCm39)	missense	probably benign	0.01
R2425:Shld2	UTSW	14	33,990,646 (GRCm39)	missense	probably damaging	0.96
R3837:Shld2	UTSW	14	33,971,142 (GRCm39)	missense	probably damaging	0.99
R3838:Shld2	UTSW	14	33,967,325 (GRCm39)	missense	probably benign	0.01
R3904:Shld2	UTSW	14	33,981,666 (GRCm39)	missense	probably damaging	1.00
R3964:Shld2	UTSW	14	33,981,644 (GRCm39)	missense	probably damaging	1.00
R4322:Shld2	UTSW	14	33,981,632 (GRCm39)	missense	probably damaging	0.99
R4708:Shld2	UTSW	14	33,989,790 (GRCm39)	missense	probably benign	0.17
R4771:Shld2	UTSW	14	33,990,663 (GRCm39)	missense	probably damaging	1.00
R4838:Shld2	UTSW	14	33,990,582 (GRCm39)	missense	probably benign	0.02
R5448:Shld2	UTSW	14	33,990,327 (GRCm39)	missense	probably benign	0.32
R5874:Shld2	UTSW	14	33,967,215 (GRCm39)	missense	probably benign	0.08
R6332:Shld2	UTSW	14	33,990,129 (GRCm39)	missense	probably benign	0.07
R6333:Shld2	UTSW	14	33,989,565 (GRCm39)	missense	probably damaging	1.00
R6476:Shld2	UTSW	14	33,989,971 (GRCm39)	missense	probably benign	0.27
R6576:Shld2	UTSW	14	33,990,199 (GRCm39)	missense	probably damaging	1.00
R7172:Shld2	UTSW	14	33,959,525 (GRCm39)	missense	probably damaging	1.00
R7574:Shld2	UTSW	14	33,959,423 (GRCm39)	missense	probably damaging	1.00
R7725:Shld2	UTSW	14	33,990,661 (GRCm39)	missense	possibly damaging	0.86
R7755:Shld2	UTSW	14	33,970,847 (GRCm39)	missense	probably damaging	0.99
R7840:Shld2	UTSW	14	33,959,523 (GRCm39)	missense	probably damaging	1.00
R7881:Shld2	UTSW	14	33,989,724 (GRCm39)	missense	possibly damaging	0.63
R7947:Shld2	UTSW	14	33,990,436 (GRCm39)	missense	probably benign	0.27
R8192:Shld2	UTSW	14	33,967,173 (GRCm39)	missense	probably benign	0.04
R8443:Shld2	UTSW	14	33,989,942 (GRCm39)	missense	probably benign	0.00
R8492:Shld2	UTSW	14	33,967,189 (GRCm39)	missense	probably damaging	0.99
R9323:Shld2	UTSW	14	33,981,596 (GRCm39)	missense	probably damaging	0.98
R9524:Shld2	UTSW	14	33,971,245 (GRCm39)	nonsense	probably null
X0009:Shld2	UTSW	14	33,967,143 (GRCm39)	missense	probably benign	0.02
Z1177:Shld2	UTSW	14	33,990,555 (GRCm39)	missense	probably damaging	1.00
Z1177:Shld2	UTSW	14	33,963,428 (GRCm39)	missense	probably benign	0.31

Posted On

2013-04-17