Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03387:Pam16'

420924

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pam16

Ensembl Gene

ENSMUSG00000014301

Gene Name

presequence translocase-asssociated motor 16

Synonyms

Tim16, 2010110I09Rik, Magmas, CGI-136

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

IGL03387

Quality Score

Status

Chromosome

Chromosomal Location

4434330-4442810 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 4434671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119723 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000014447] [ENSMUST00000156889]

AlphaFold

Q9CQV1

Predicted Effect

probably benign
Transcript: ENSMUST00000014445

SMART Domains

Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301

Domain	Start	End	E-Value	Type
Pfam:Pam16	1	125	4.9e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000014447

SMART Domains

Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	74	100	N/A	INTRINSIC
ZnF_C2H2	168	193	1.05e1	SMART
ZnF_C2H2	202	229	8.09e0	SMART
ZnF_C2H2	235	257	1.82e-3	SMART
ZnF_C2H2	263	287	3.16e-3	SMART
ZnF_C2H2	293	317	1.04e-3	SMART
low complexity region	328	342	N/A	INTRINSIC
low complexity region	358	385	N/A	INTRINSIC
low complexity region	387	402	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC
low complexity region	420	445	N/A	INTRINSIC
low complexity region	468	475	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131250

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135577

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139534

Predicted Effect

probably benign
Transcript: ENSMUST00000156889

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	C	13: 68,878,486 (GRCm39)	I384S	probably damaging	Het
Atxn7	T	C	14: 14,087,273 (GRCm38)		probably benign	Het
Blm	A	T	7: 80,143,895 (GRCm39)	V848D	probably damaging	Het
Cul1	G	T	6: 47,478,143 (GRCm39)	L175F	probably damaging	Het
Cyp4a29	A	G	4: 115,108,368 (GRCm39)	H364R	possibly damaging	Het
Ddx60	A	G	8: 62,465,483 (GRCm39)	D1380G	probably damaging	Het
Det1	A	T	7: 78,493,372 (GRCm39)	C211S	possibly damaging	Het
Dnaaf9	A	G	2: 130,559,200 (GRCm39)	Y822H	probably damaging	Het
F5	A	C	1: 164,020,801 (GRCm39)	Q1092P	probably damaging	Het
Fam117b	A	C	1: 59,992,119 (GRCm39)	Y256S	probably benign	Het
Fbxl13	A	G	5: 21,728,796 (GRCm39)		probably null	Het
Galnt7	A	G	8: 57,979,212 (GRCm39)	I637T	probably benign	Het
H2-T24	T	A	17: 36,317,671 (GRCm39)	K120N	unknown	Het
Hes2	A	G	4: 152,244,269 (GRCm39)	K18R	probably damaging	Het
Icam5	A	T	9: 20,945,097 (GRCm39)	Q220L	probably benign	Het
Kdm8	G	A	7: 125,054,278 (GRCm39)	A170T	probably benign	Het
Krt40	G	A	11: 99,430,711 (GRCm39)	A321V	probably damaging	Het
Mapkbp1	T	A	2: 119,828,979 (GRCm39)	V45D	probably damaging	Het
Mbip	A	G	12: 56,382,597 (GRCm39)	Y290H	probably damaging	Het
Mical1	A	G	10: 41,354,195 (GRCm39)	Y48C	probably damaging	Het
Mslnl	T	C	17: 25,963,051 (GRCm39)	S300P	probably benign	Het
Nanog	T	C	6: 122,688,731 (GRCm39)	L104P	probably damaging	Het
Or10ak11	T	C	4: 118,687,238 (GRCm39)	Y132C	probably damaging	Het
Or4c113	A	T	2: 88,885,457 (GRCm39)	H104Q	probably damaging	Het
Or4f60	T	A	2: 111,902,007 (GRCm39)	Y307F	probably benign	Het
Or52n2c	A	T	7: 104,574,580 (GRCm39)	N130K	probably benign	Het
Oxgr1	C	A	14: 120,260,199 (GRCm39)	E3*	probably null	Het
Plcb1	A	T	2: 134,655,606 (GRCm39)		probably benign	Het
Slc25a32	A	T	15: 38,969,359 (GRCm39)	V58E	probably benign	Het
Slc2a12	G	T	10: 22,541,134 (GRCm39)	V330F	probably damaging	Het
Slit1	T	C	19: 41,591,881 (GRCm39)	E1247G	possibly damaging	Het
Supt5	A	T	7: 28,019,508 (GRCm39)	C519S	possibly damaging	Het
Szt2	A	G	4: 118,221,922 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,180 (GRCm39)	W294R	possibly damaging	Het
Tex21	A	T	12: 76,245,694 (GRCm39)	M534K	probably damaging	Het
Tmem132c	T	C	5: 127,640,784 (GRCm39)	I985T	probably benign	Het
Tmem87b	T	C	2: 128,665,019 (GRCm39)	V61A	probably benign	Het
Trhr2	G	A	8: 123,085,220 (GRCm39)		probably benign	Het
Ttc28	A	G	5: 111,381,208 (GRCm39)	D1209G	probably benign	Het
Uchl5	A	G	1: 143,677,940 (GRCm39)	E148G	probably benign	Het
Wdr62	T	C	7: 29,970,199 (GRCm39)	I203V	possibly damaging	Het
Wnk1	T	C	6: 119,931,148 (GRCm39)	I799V	possibly damaging	Het

Other mutations in Pam16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02644:Pam16	APN	16	4,434,697 (GRCm39)	missense	probably damaging	1.00
ANU74:Pam16	UTSW	16	4,434,497 (GRCm39)	missense	probably damaging	1.00
IGL03097:Pam16	UTSW	16	4,434,458 (GRCm39)	missense	probably benign	0.20
R5507:Pam16	UTSW	16	4,435,880 (GRCm39)	splice site	probably benign
Z1176:Pam16	UTSW	16	4,442,770 (GRCm39)	start gained	probably benign

Posted On

2016-08-02