Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01531:Impact'

89753

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Impact

Ensembl Gene

ENSMUSG00000024423

Gene Name

impact, RWD domain protein

Synonyms

E430016J11Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.463) question?

Stock #

IGL01531

Quality Score

Status

Chromosome

Chromosomal Location

13088909-13126007 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 13109076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 69 (S69F)

Ref Sequence

ENSEMBL: ENSMUSP00000025290 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025290]

AlphaFold

O55091

Predicted Effect

probably benign
Transcript: ENSMUST00000025290
AA Change: S69F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025290
Gene: ENSMUSG00000024423
AA Change: S69F

Domain	Start	End	E-Value	Type
RWD	14	116	7.86e-29	SMART
low complexity region	126	139	N/A	INTRINSIC
low complexity region	160	171	N/A	INTRINSIC
Pfam:UPF0029	180	288	8.5e-36	PFAM
low complexity region	306	315	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,603,494 (GRCm39)		probably null	Het
Abtb3	T	C	10: 85,465,069 (GRCm39)		probably benign	Het
Adcy1	T	C	11: 7,119,414 (GRCm39)	V1019A	possibly damaging	Het
Blm	A	G	7: 80,123,819 (GRCm39)	Y1004H	probably damaging	Het
Cachd1	A	C	4: 100,810,231 (GRCm39)	I278L	probably benign	Het
Ddx18	T	A	1: 121,492,315 (GRCm39)	T131S	probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dlgap1	A	G	17: 70,823,374 (GRCm39)	T120A	probably damaging	Het
Dnaja3	T	G	16: 4,512,268 (GRCm39)	V224G	probably damaging	Het
Dntt	A	T	19: 41,041,677 (GRCm39)	R454*	probably null	Het
Dync2h1	T	A	9: 7,071,111 (GRCm39)	T3083S	probably benign	Het
Eea1	C	A	10: 95,867,539 (GRCm39)	T1045K	probably damaging	Het
Gpnmb	T	A	6: 49,024,392 (GRCm39)		probably benign	Het
Hirip3	A	G	7: 126,462,548 (GRCm39)	E108G	possibly damaging	Het
Il33	C	A	19: 29,929,381 (GRCm39)	Q35K	possibly damaging	Het
Il6ra	G	A	3: 89,793,350 (GRCm39)	L267F	probably damaging	Het
Klk1b9	G	A	7: 43,441,675 (GRCm39)	G39D	probably damaging	Het
Ldah	A	G	12: 8,277,337 (GRCm39)	D91G	probably benign	Het
Lrp4	T	C	2: 91,341,898 (GRCm39)	L1837P	probably damaging	Het
Mov10l1	T	A	15: 88,938,555 (GRCm39)	H1204Q	probably damaging	Het
Nlrp4c	A	G	7: 6,063,655 (GRCm39)	E21G	probably damaging	Het
Or12k8	T	C	2: 36,975,407 (GRCm39)	M118V	possibly damaging	Het
Or52ae9	T	A	7: 103,390,321 (GRCm39)	N42I	probably damaging	Het
Osbpl1a	T	G	18: 13,066,638 (GRCm39)	K40N	probably damaging	Het
Ptprd	T	C	4: 76,003,757 (GRCm39)	T1010A	probably damaging	Het
Rp1	A	G	1: 4,419,168 (GRCm39)	V648A	probably benign	Het
Scn9a	T	C	2: 66,367,722 (GRCm39)	K654E	probably benign	Het
Sema3d	A	G	5: 12,591,047 (GRCm39)	I309V	probably benign	Het
Slc6a2	T	C	8: 93,722,310 (GRCm39)	L519P	probably damaging	Het
Stard9	A	G	2: 120,504,085 (GRCm39)	I211V	possibly damaging	Het
Stau2	T	C	1: 16,415,922 (GRCm39)	*480W	probably null	Het
Svopl	T	C	6: 38,003,876 (GRCm39)		probably benign	Het
Virma	A	G	4: 11,528,753 (GRCm39)	E1330G	probably damaging	Het
Zan	G	A	5: 137,422,874 (GRCm39)	T2713I	unknown	Het

Other mutations in Impact

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01960:Impact	APN	18	13,107,815 (GRCm39)	missense	probably benign	0.13
R1056:Impact	UTSW	18	13,109,581 (GRCm39)	missense	probably benign	0.14
R1552:Impact	UTSW	18	13,117,337 (GRCm39)	missense	probably benign	0.25
R4111:Impact	UTSW	18	13,109,090 (GRCm39)	critical splice donor site	probably null
R4734:Impact	UTSW	18	13,118,346 (GRCm39)	missense	probably damaging	1.00
R4885:Impact	UTSW	18	13,119,430 (GRCm39)	missense	probably damaging	1.00
R5566:Impact	UTSW	18	13,107,819 (GRCm39)	missense	probably damaging	0.98
R5601:Impact	UTSW	18	13,109,064 (GRCm39)	missense	probably benign	0.44
R5966:Impact	UTSW	18	13,123,601 (GRCm39)	missense	probably benign	0.00
R6974:Impact	UTSW	18	13,115,169 (GRCm39)	missense	probably damaging	1.00
R7168:Impact	UTSW	18	13,119,370 (GRCm39)	splice site	probably null
R8108:Impact	UTSW	18	13,117,388 (GRCm39)	missense	probably benign	0.00
R8460:Impact	UTSW	18	13,109,564 (GRCm39)	missense	probably benign	0.00
R8474:Impact	UTSW	18	13,107,798 (GRCm39)	missense	probably damaging	1.00
R8897:Impact	UTSW	18	13,123,551 (GRCm39)	missense	probably benign	0.10
Z1177:Impact	UTSW	18	13,121,423 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03