Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02076:Pim1'

185985

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pim1

Ensembl Gene

ENSMUSG00000024014

Gene Name

proviral integration site 1

Synonyms

Pim-1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02076

Quality Score

Status

Chromosome

Chromosomal Location

29709759-29715085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29712777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 230 (I230N)

Ref Sequence

ENSEMBL: ENSMUSP00000024811 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024811]

AlphaFold

P06803

Predicted Effect

probably damaging
Transcript: ENSMUST00000024811
AA Change: I230N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000024811
Gene: ENSMUSG00000024014
AA Change: I230N

Domain	Start	End	E-Value	Type
low complexity region	1	45	N/A	INTRINSIC
low complexity region	52	77	N/A	INTRINSIC
S_TKc	122	374	1.88e-69	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181920

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family, and PIM subfamily. This gene is expressed primarily in B-lymphoid and myeloid cell lines, and is overexpressed in hematopoietic malignancies and in prostate cancer. It plays a role in signal transduction in blood cells, contributing to both cell proliferation and survival, and thus provides a selective advantage in tumorigenesis. Both the human and orthologous mouse genes have been reported to encode two isoforms (with preferential cellular localization) resulting from the use of alternative in-frame translation initiation codons, the upstream non-AUG (CUG) and downstream AUG codons (PMIDs:16186805, 1825810).[provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have abnormally small erythrocytes but are otherwise phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,186,900 (GRCm39)	Y407C	probably damaging	Het
Capn5	T	A	7: 97,780,950 (GRCm39)	K276*	probably null	Het
Cct4	T	C	11: 22,952,394 (GRCm39)	V495A	probably damaging	Het
Dapk3	A	G	10: 81,026,131 (GRCm39)	K141E	probably damaging	Het
Dnah2	T	C	11: 69,313,385 (GRCm39)	N4264S	probably damaging	Het
Dok1	A	G	6: 83,009,812 (GRCm39)	L99P	probably damaging	Het
Ebf3	A	G	7: 136,833,030 (GRCm39)	V215A	possibly damaging	Het
Efnb2	A	G	8: 8,710,488 (GRCm39)	S43P	probably benign	Het
Jhy	G	A	9: 40,828,674 (GRCm39)	Q411*	probably null	Het
Krt73	G	A	15: 101,708,370 (GRCm39)	T229I	probably damaging	Het
Mroh8	A	G	2: 157,113,882 (GRCm39)		probably null	Het
Olfm1	A	G	2: 28,112,637 (GRCm39)	T223A	probably damaging	Het
Oprk1	T	A	1: 5,672,512 (GRCm39)	D216E	probably damaging	Het
Or4b1d	T	A	2: 89,969,159 (GRCm39)	E108V	probably damaging	Het
Or8g23	A	G	9: 38,971,881 (GRCm39)	L27P	probably damaging	Het
Ppm1f	A	C	16: 16,732,035 (GRCm39)	T162P	possibly damaging	Het
Rbbp8	T	C	18: 11,838,876 (GRCm39)	Y186H	probably damaging	Het
Sema4a	C	T	3: 88,357,829 (GRCm39)	R225H	probably damaging	Het
Slc15a2	A	C	16: 36,582,743 (GRCm39)	F215C	probably damaging	Het
Slc25a1	A	G	16: 17,745,490 (GRCm39)	C41R	possibly damaging	Het
Stil	C	A	4: 114,880,834 (GRCm39)	H459Q	probably benign	Het
Tbc1d32	A	G	10: 55,964,499 (GRCm39)	I900T	possibly damaging	Het
Tmem33	T	C	5: 67,443,446 (GRCm39)	F208L	probably damaging	Het
Utp25	T	C	1: 192,812,367 (GRCm39)	H31R	probably damaging	Het
Vmn2r72	A	G	7: 85,387,575 (GRCm39)	V663A	probably damaging	Het

Other mutations in Pim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02859:Pim1	APN	17	29,710,909 (GRCm39)	missense	probably damaging	1.00
IGL03170:Pim1	APN	17	29,710,152 (GRCm39)	missense	possibly damaging	0.87
IGL03182:Pim1	APN	17	29,710,740 (GRCm39)	missense	possibly damaging	0.63
IGL03191:Pim1	APN	17	29,712,693 (GRCm39)	splice site	probably benign
R0510:Pim1	UTSW	17	29,712,883 (GRCm39)	splice site	probably benign
R5382:Pim1	UTSW	17	29,710,457 (GRCm39)	intron	probably benign
R5872:Pim1	UTSW	17	29,712,720 (GRCm39)	missense	probably damaging	1.00
R9259:Pim1	UTSW	17	29,710,181 (GRCm39)	missense	probably benign	0.04

Posted On

2014-05-07