Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02017:Dipk1c'

183801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dipk1c

Ensembl Gene

ENSMUSG00000047992

Gene Name

divergent protein kinase domain 1C

Synonyms

Fam69c, B230399E16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

IGL02017

Quality Score

Status

Chromosome

Chromosomal Location

84737361-84758561 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84754950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 142 (D142V)

Ref Sequence

ENSEMBL: ENSMUSP00000057697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052501]

AlphaFold

Q8BQT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000052501
AA Change: D142V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057697
Gene: ENSMUSG00000047992
AA Change: D142V

Domain	Start	End	E-Value	Type
Pfam:PIP49_C	38	230	1.4e-61	PFAM
low complexity region	231	243	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158785

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159800

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,271,775 (GRCm39)	I544N	probably benign	Het
Ago2	T	C	15: 72,998,366 (GRCm39)	T271A	probably benign	Het
Aox3	A	C	1: 58,160,151 (GRCm39)	K111N	probably damaging	Het
Arhgap39	G	A	15: 76,621,237 (GRCm39)	R455C	probably damaging	Het
Brcc3	A	G	X: 74,466,389 (GRCm39)	D67G	possibly damaging	Het
Crot	T	G	5: 9,020,046 (GRCm39)		probably benign	Het
Dusp5	A	G	19: 53,525,937 (GRCm39)	H193R	probably damaging	Het
Ect2	G	A	3: 27,176,193 (GRCm39)	R644*	probably null	Het
Epn3	A	G	11: 94,385,852 (GRCm39)	S190P	probably benign	Het
Fam3c	A	G	6: 22,343,276 (GRCm39)	M1T	probably null	Het
Kif4	A	G	X: 99,681,960 (GRCm39)	N197S	probably benign	Het
Krt1c	T	C	15: 101,724,939 (GRCm39)	N224D	probably damaging	Het
Lama1	A	G	17: 68,071,720 (GRCm39)	H869R	probably benign	Het
Lrrc14	G	T	15: 76,597,942 (GRCm39)	R224L	probably damaging	Het
Macf1	T	C	4: 123,393,724 (GRCm39)	D864G	probably damaging	Het
Map3k11	C	T	19: 5,747,651 (GRCm39)	S603F	possibly damaging	Het
Mxra7	A	G	11: 116,702,747 (GRCm39)		probably null	Het
Myo5b	C	A	18: 74,850,070 (GRCm39)	D1139E	probably damaging	Het
Nek9	T	C	12: 85,376,697 (GRCm39)	Y228C	probably damaging	Het
Nxph1	T	C	6: 9,247,743 (GRCm39)	I238T	probably damaging	Het
Or2r11	T	C	6: 42,437,758 (GRCm39)	H65R	probably benign	Het
Or5ac17	A	G	16: 59,036,310 (GRCm39)	L222P	probably damaging	Het
Or9i1	T	A	19: 13,839,595 (GRCm39)	V146E	possibly damaging	Het
Pdpn	A	G	4: 142,997,140 (GRCm39)		probably benign	Het
Plbd2	T	C	5: 120,626,623 (GRCm39)	T329A	probably damaging	Het
Ptpn6	T	C	6: 124,709,449 (GRCm39)	D8G	probably damaging	Het
Rad54l2	T	C	9: 106,631,239 (GRCm39)	D16G	possibly damaging	Het
Slc43a3	A	G	2: 84,768,585 (GRCm39)	E68G	probably damaging	Het
Snph	G	A	2: 151,442,902 (GRCm39)	R16C	probably damaging	Het
Ttn	G	A	2: 76,555,560 (GRCm39)	R28736*	probably null	Het
Vmn1r18	G	A	6: 57,366,741 (GRCm39)	A271V	probably benign	Het

Other mutations in Dipk1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0408:Dipk1c	UTSW	18	84,738,488 (GRCm39)	critical splice donor site	probably null
R1085:Dipk1c	UTSW	18	84,757,509 (GRCm39)	missense	possibly damaging	0.95
R1682:Dipk1c	UTSW	18	84,754,988 (GRCm39)	missense	possibly damaging	0.92
R2076:Dipk1c	UTSW	18	84,755,033 (GRCm39)	missense	probably damaging	1.00
R3923:Dipk1c	UTSW	18	84,748,812 (GRCm39)	missense	probably damaging	0.99
R5079:Dipk1c	UTSW	18	84,748,702 (GRCm39)	missense	probably benign	0.17
R5366:Dipk1c	UTSW	18	84,748,720 (GRCm39)	missense	probably damaging	1.00
R6914:Dipk1c	UTSW	18	84,748,549 (GRCm39)	missense	possibly damaging	0.72
R6942:Dipk1c	UTSW	18	84,748,549 (GRCm39)	missense	possibly damaging	0.72
R7855:Dipk1c	UTSW	18	84,748,171 (GRCm39)	start gained	probably benign
R8801:Dipk1c	UTSW	18	84,757,617 (GRCm39)	missense	probably benign	0.00

Posted On

2014-05-07