Mutagenetix > Incidental Mutation

Incidental Mutation 'R6771:Dipk1b'

532155

Institutional Source

Beutler Lab

Gene Symbol

Dipk1b

Ensembl Gene

ENSMUSG00000036186

Gene Name

divergent protein kinase domain 1B

Synonyms

PIP49, B230317C12Rik, Fam69b

MMRRC Submission

044887-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.250) question?

Stock #

R6771 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26518469-26526509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26524875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 92 (R92G)

Ref Sequence

ENSEMBL: ENSMUSP00000073860 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074240] [ENSMUST00000174066]

AlphaFold

Q99ML4

Predicted Effect

probably benign
Transcript: ENSMUST00000074240
AA Change: R92G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000073860
Gene: ENSMUSG00000036186
AA Change: R92G

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PIP49_N	22	180	2.18e-90	SMART
Pfam:PIP49_C	197	399	6.4e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174066

SMART Domains

Protein: ENSMUSP00000133799
Gene: ENSMUSG00000092356

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	64	88	N/A	INTRINSIC

Meta Mutation Damage Score

0.0900

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.3%

Validation Efficiency

95% (37/39)

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,914,105 (GRCm39)	H174Q	probably damaging	Het
Apoa4	G	A	9: 46,154,465 (GRCm39)	M355I	probably benign	Het
Apol8	A	T	15: 77,637,258 (GRCm39)		probably null	Het
Arvcf	A	G	16: 18,222,614 (GRCm39)	T792A	probably benign	Het
Atp10b	T	C	11: 43,094,079 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,516,820 (GRCm39)	Y340N	probably damaging	Het
C1rb	T	G	6: 124,554,364 (GRCm39)	S382A	probably benign	Het
Clmn	A	G	12: 104,740,041 (GRCm39)	V962A	probably benign	Het
Csmd1	A	G	8: 16,121,408 (GRCm39)	V1763A	possibly damaging	Het
Ctnnd1	A	T	2: 84,450,454 (GRCm39)	D255E	probably damaging	Het
Ctnnd1	C	A	2: 84,450,269 (GRCm39)	R317L	probably damaging	Het
Cyb5a	T	A	18: 84,889,755 (GRCm39)	H61Q	probably damaging	Het
Dmxl2	A	T	9: 54,323,808 (GRCm39)	I1192N	probably damaging	Het
Flg	T	C	3: 93,195,630 (GRCm39)		probably benign	Het
Fras1	A	G	5: 96,746,800 (GRCm39)	I623M	possibly damaging	Het
Ftsj3	T	C	11: 106,140,366 (GRCm39)	K801E	probably damaging	Het
Gpr35	T	A	1: 92,910,426 (GRCm39)	M46K	probably damaging	Het
Ighv2-9	T	G	12: 113,842,807 (GRCm39)	S87R	probably damaging	Het
Kdm4b	C	T	17: 56,658,754 (GRCm39)	A33V	possibly damaging	Het
Klhl5	T	A	5: 65,321,995 (GRCm39)	Y534N	probably damaging	Het
Marchf8	T	C	6: 116,379,004 (GRCm39)	S313P	probably benign	Het
Mccc1	C	T	3: 36,043,992 (GRCm39)		probably null	Het
Memo1	A	T	17: 74,508,273 (GRCm39)	F270L	probably damaging	Het
Nxpe3	C	A	16: 55,686,471 (GRCm39)	G179V	probably damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or5b120	T	A	19: 13,480,318 (GRCm39)	F204I	possibly damaging	Het
Or7g35	C	T	9: 19,496,675 (GRCm39)	L281F	probably benign	Het
Otp	A	G	13: 95,012,294 (GRCm39)	D6G	probably damaging	Het
Ptpn4	T	A	1: 119,643,698 (GRCm39)	N350I	probably benign	Het
Pwp2	G	A	10: 78,018,222 (GRCm39)		probably null	Het
Rassf10	A	G	7: 112,553,635 (GRCm39)	M79V	probably benign	Het
Rbm12	A	T	2: 155,939,375 (GRCm39)	I299N	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Homo
Scfd2	T	C	5: 74,692,117 (GRCm39)	H55R	probably benign	Het
Skic2	G	A	17: 35,064,166 (GRCm39)	R507*	probably null	Het
Sp110	C	T	1: 85,520,000 (GRCm39)		probably null	Het
Syde2	G	A	3: 145,704,803 (GRCm39)	G318E	probably damaging	Het
Ttn	T	A	2: 76,538,883 (GRCm39)	D34649V	possibly damaging	Het

Other mutations in Dipk1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01927:Dipk1b	APN	2	26,526,127 (GRCm39)	missense	probably benign	0.00
R0669:Dipk1b	UTSW	2	26,524,878 (GRCm39)	missense	probably benign	0.00
R1912:Dipk1b	UTSW	2	26,522,716 (GRCm39)	missense	probably damaging	1.00
R2258:Dipk1b	UTSW	2	26,525,162 (GRCm39)	missense	probably damaging	0.99
R2760:Dipk1b	UTSW	2	26,525,837 (GRCm39)	missense	probably benign	0.00
R3712:Dipk1b	UTSW	2	26,522,650 (GRCm39)	missense	possibly damaging	0.72
R3953:Dipk1b	UTSW	2	26,525,579 (GRCm39)	missense	probably benign	0.44
R3956:Dipk1b	UTSW	2	26,525,579 (GRCm39)	missense	probably benign	0.44
R4190:Dipk1b	UTSW	2	26,526,193 (GRCm39)	missense	probably damaging	1.00
R4213:Dipk1b	UTSW	2	26,525,960 (GRCm39)	missense	probably benign	0.05
R5161:Dipk1b	UTSW	2	26,526,260 (GRCm39)	missense	possibly damaging	0.92
R5618:Dipk1b	UTSW	2	26,524,887 (GRCm39)	missense	probably damaging	0.99
R6198:Dipk1b	UTSW	2	26,525,710 (GRCm39)	missense	probably damaging	0.96
R6769:Dipk1b	UTSW	2	26,524,875 (GRCm39)	missense	probably benign	0.00
R8934:Dipk1b	UTSW	2	26,524,866 (GRCm39)	missense	possibly damaging	0.93
R9126:Dipk1b	UTSW	2	26,525,989 (GRCm39)	missense	probably benign	0.19

Predicted Primers

PCR Primer
(F):5'- TCCTCATGTCAGTGCTGCTG -3'
(R):5'- ATGCCACATTTGATGGTCACCTC -3'

Sequencing Primer
(F):5'- CCTTCCTGGGGGATTCTGAAG -3'
(R):5'- ACCTCTTTGTCTTGCCAGAG -3'

Posted On

2018-08-29