Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02964:Ppil6'

365489

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ppil6

Ensembl Gene

ENSMUSG00000078451

Gene Name

peptidylprolyl isomerase (cyclophilin)-like 6

Synonyms

2900084F20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02964

Quality Score

Status

Chromosome

Chromosomal Location

41366435-41390282 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41383479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 252 (H252N)

Ref Sequence

ENSEMBL: ENSMUSP00000101146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105507]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000105507
AA Change: H252N

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000101146
Gene: ENSMUSG00000078451
AA Change: H252N

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
Pfam:Pro_isomerase	147	310	1.3e-41	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000214145
AA Change: H82N

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,242,636 (GRCm39)	I1364V	possibly damaging	Het
Adamts19	T	A	18: 59,122,037 (GRCm39)	I813K	probably damaging	Het
Adamtsl1	G	T	4: 86,342,594 (GRCm39)	C1703F	probably damaging	Het
Atp2b4	T	A	1: 133,658,303 (GRCm39)	T536S	probably damaging	Het
Capg	T	A	6: 72,539,827 (GRCm39)	I340N	probably damaging	Het
Casc3	T	A	11: 98,719,749 (GRCm39)	M567K	probably damaging	Het
Chmp1a	T	C	8: 123,934,806 (GRCm39)	E50G	probably damaging	Het
Cryba1	T	C	11: 77,610,207 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,965,735 (GRCm39)	Y2356N	probably damaging	Het
Ercc6	T	G	14: 32,292,060 (GRCm39)	S1141R	probably benign	Het
Exd2	T	A	12: 80,527,302 (GRCm39)	V165D	probably damaging	Het
Fbln1	A	T	15: 85,115,663 (GRCm39)	E233V	probably damaging	Het
Ftsj3	T	C	11: 106,143,163 (GRCm39)	K384E	probably damaging	Het
Ggt5	A	G	10: 75,439,962 (GRCm39)	I188V	probably benign	Het
Gm42742	A	T	7: 126,616,018 (GRCm39)	S26T	probably damaging	Het
Gucy1a2	T	A	9: 3,759,542 (GRCm39)	D449E	probably damaging	Het
Igfbp7	C	T	5: 77,499,188 (GRCm39)	S239N	possibly damaging	Het
Klf11	C	T	12: 24,705,626 (GRCm39)	A360V	probably damaging	Het
Kmt2e	T	A	5: 23,672,098 (GRCm39)		probably benign	Het
Magea8	A	T	X: 153,769,678 (GRCm39)	C144S	probably damaging	Het
Med4	A	G	14: 73,755,361 (GRCm39)	Q223R	probably damaging	Het
Mmd2	G	T	5: 142,555,232 (GRCm39)	F153L	probably damaging	Het
Nav3	C	A	10: 109,572,814 (GRCm39)	R1615L	probably damaging	Het
Nisch	A	G	14: 30,902,769 (GRCm39)		probably benign	Het
Nr1i3	A	T	1: 171,041,964 (GRCm39)	Y16F	probably benign	Het
Or5w1	C	A	2: 87,487,058 (GRCm39)	C69F	probably damaging	Het
Or7e169	G	A	9: 19,757,550 (GRCm39)	R122*	probably null	Het
Or7g16	A	G	9: 18,727,024 (GRCm39)	C189R	probably damaging	Het
Or8g34	A	G	9: 39,373,077 (GRCm39)	T117A	possibly damaging	Het
Ppp6r2	C	T	15: 89,143,378 (GRCm39)	P175L	probably damaging	Het
Psme4	T	A	11: 30,741,095 (GRCm39)	Y90*	probably null	Het
Rbm20	C	A	19: 53,802,133 (GRCm39)	L214I	probably benign	Het
Rhox2f	T	C	X: 36,753,334 (GRCm39)	V24A	probably benign	Het
Scnm1	T	C	3: 95,040,348 (GRCm39)	K96E	probably benign	Het
Sec16a	A	C	2: 26,309,735 (GRCm39)	D2090E	probably benign	Het
Smg6	T	C	11: 74,821,576 (GRCm39)		probably null	Het
Snx2	T	C	18: 53,327,630 (GRCm39)	S119P	probably benign	Het
Stam	A	G	2: 14,120,779 (GRCm39)		probably benign	Het
Sult2b1	T	A	7: 45,384,698 (GRCm39)	E126V	probably benign	Het
Tor1aip1	T	C	1: 155,911,590 (GRCm39)	E131G	probably damaging	Het
Ttn	C	T	2: 76,619,040 (GRCm39)	C14367Y	probably damaging	Het
Ubr4	T	C	4: 139,135,131 (GRCm39)	F821S	possibly damaging	Het
Vmn1r32	T	C	6: 66,529,922 (GRCm39)	N285D	probably benign	Het
Vmn2r23	T	C	6: 123,718,741 (GRCm39)	L698P	possibly damaging	Het
Wnt8a	T	A	18: 34,675,474 (GRCm39)	L18Q	possibly damaging	Het
Zfp747	T	C	7: 126,973,666 (GRCm39)	E168G	probably benign	Het

Other mutations in Ppil6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01110:Ppil6	APN	10	41,374,406 (GRCm39)	missense	probably benign	0.00
IGL01453:Ppil6	APN	10	41,374,473 (GRCm39)	missense	probably benign
R0827:Ppil6	UTSW	10	41,370,500 (GRCm39)	unclassified	probably benign
R1661:Ppil6	UTSW	10	41,390,176 (GRCm39)	missense	probably benign	0.03
R2302:Ppil6	UTSW	10	41,377,795 (GRCm39)	missense	probably damaging	1.00
R2844:Ppil6	UTSW	10	41,377,689 (GRCm39)	splice site	probably benign
R4258:Ppil6	UTSW	10	41,383,531 (GRCm39)	nonsense	probably null
R5098:Ppil6	UTSW	10	41,366,616 (GRCm39)	missense	probably null	1.00
R5455:Ppil6	UTSW	10	41,374,541 (GRCm39)	missense	probably benign	0.15
R5530:Ppil6	UTSW	10	41,383,494 (GRCm39)	missense	probably damaging	1.00
R6683:Ppil6	UTSW	10	41,374,427 (GRCm39)	missense	probably benign
R7288:Ppil6	UTSW	10	41,374,524 (GRCm39)	missense	probably benign	0.03
R7843:Ppil6	UTSW	10	41,377,862 (GRCm39)	missense	probably benign
R9424:Ppil6	UTSW	10	41,379,024 (GRCm39)	missense	probably damaging	1.00
R9590:Ppil6	UTSW	10	41,366,478 (GRCm39)	start codon destroyed	probably null	0.95
R9630:Ppil6	UTSW	10	41,370,550 (GRCm39)	missense	probably benign	0.26

Posted On

2015-12-18