Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01129:4933436I01Rik'

53352

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4933436I01Rik

Ensembl Gene

ENSMUSG00000025288

Gene Name

RIKEN cDNA 4933436I01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL01129

Quality Score

Status

Chromosome

Chromosomal Location

66963470-66965056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66964210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 216 (F216L)

Ref Sequence

ENSEMBL: ENSMUSP00000026325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026325]

AlphaFold

Q9D3T1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026325
AA Change: F216L

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000026325
Gene: ENSMUSG00000025288
AA Change: F216L

Domain	Start	End	E-Value	Type
low complexity region	54	67	N/A	INTRINSIC
low complexity region	79	90	N/A	INTRINSIC
low complexity region	91	105	N/A	INTRINSIC
low complexity region	146	157	N/A	INTRINSIC
internal_repeat_1	172	240	2.42e-18	PROSPERO
internal_repeat_1	280	348	2.42e-18	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bace2	T	G	16: 97,209,630 (GRCm39)	N181K	probably damaging	Het
Cc2d1a	G	T	8: 84,870,033 (GRCm39)	H161N	probably benign	Het
Ckap2	C	T	8: 22,659,774 (GRCm39)	G569D	probably damaging	Het
Col11a1	T	C	3: 113,979,522 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,535,846 (GRCm39)	D939N	unknown	Het
Creb3l2	A	T	6: 37,330,569 (GRCm39)		probably benign	Het
Cuedc1	T	A	11: 88,074,080 (GRCm39)	S205T	possibly damaging	Het
Cux1	G	A	5: 136,333,572 (GRCm39)		probably benign	Het
Cyp3a59	A	G	5: 146,035,089 (GRCm39)	M256V	probably benign	Het
Gzf1	C	A	2: 148,532,916 (GRCm39)	P690Q	probably damaging	Het
Lrch3	T	A	16: 32,815,335 (GRCm39)	D575E	probably benign	Het
Lypd3	A	G	7: 24,340,018 (GRCm39)	M362V	probably benign	Het
Mppe1	C	A	18: 67,370,515 (GRCm39)	G61*	probably null	Het
Nr2c2	T	A	6: 92,135,397 (GRCm39)	D328E	probably benign	Het
Or6b9	T	C	7: 106,555,634 (GRCm39)	N170D	probably damaging	Het
Pfn4	T	A	12: 4,825,505 (GRCm39)	V114E	probably damaging	Het
Rab14	T	C	2: 35,073,398 (GRCm39)		probably benign	Het
Slc30a9	G	T	5: 67,499,486 (GRCm39)	G315C	probably damaging	Het
Spag16	A	T	1: 69,935,681 (GRCm39)	S303C	probably benign	Het
Spata16	C	T	3: 26,967,333 (GRCm39)		probably benign	Het
Srcap	T	C	7: 127,120,823 (GRCm39)	V161A	probably damaging	Het
Srd5a3	A	G	5: 76,297,593 (GRCm39)		probably benign	Het
Vmn1r18	A	T	6: 57,367,482 (GRCm39)	F24Y	probably benign	Het
Vmn1r78	A	T	7: 11,887,165 (GRCm39)	T259S	probably benign	Het
Zc3h13	G	A	14: 75,573,439 (GRCm39)	D1527N	probably damaging	Het

Other mutations in 4933436I01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1974:4933436I01Rik	UTSW	X	66,963,655 (GRCm39)	nonsense	probably null
R2062:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2063:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2064:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2065:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2066:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R2068:4933436I01Rik	UTSW	X	66,964,308 (GRCm39)	missense	probably benign	0.01
R3147:4933436I01Rik	UTSW	X	66,964,984 (GRCm39)	missense	probably benign	0.06
R3148:4933436I01Rik	UTSW	X	66,964,984 (GRCm39)	missense	probably benign	0.06
R9339:4933436I01Rik	UTSW	X	66,964,689 (GRCm39)	nonsense	probably null
Z1177:4933436I01Rik	UTSW	X	66,964,598 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21