Mutagenetix > Incidental Mutation

Incidental Mutation 'R4654:Dipk1a'

351531

Institutional Source

Beutler Lab

Gene Symbol

Dipk1a

Ensembl Gene

ENSMUSG00000029270

Gene Name

divergent protein kinase domain 1A

Synonyms

Fam69a, 2900024C23Rik

MMRRC Submission

041914-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108055919-108134951 bp(-) (GRCm39)

Type of Mutation

splice site (4282 bp from exon)

DNA Base Change (assembly)

T to C at 108057982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153172]

AlphaFold

Q9D6I7

Predicted Effect

probably benign
Transcript: ENSMUST00000031198
AA Change: K192R

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: K192R

Domain	Start	End	E-Value	Type
PIP49_N	19	177	1.7e-92	SMART
Pfam:PIP49_C	194	396	1.9e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000082223

SMART Domains

Protein: ENSMUSP00000080854
Gene: ENSMUSG00000058558

Domain	Start	End	E-Value	Type
low complexity region	19	24	N/A	INTRINSIC
Pfam:Ribosomal_L18p	26	173	2.1e-46	PFAM
Pfam:Ribosomal_L18_c	192	283	2.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140659

Predicted Effect

probably benign
Transcript: ENSMUST00000145239
AA Change: K147R

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270
AA Change: K147R

Domain	Start	End	E-Value	Type
PIP49_N	1	132	1.18e-45	SMART
Pfam:PIP49_C	149	284	2e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151767

Predicted Effect

probably null
Transcript: ENSMUST00000153172

SMART Domains

Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270

Domain	Start	End	E-Value	Type
PIP49_N	24	87	1.07e-2	SMART

Meta Mutation Damage Score

0.1569

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

97% (98/101)

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. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	A	T	8: 25,193,819 (GRCm39)	C398S	probably damaging	Het
Adamts10	A	G	17: 33,756,304 (GRCm39)	K316E	possibly damaging	Het
Ap1m1	T	C	8: 73,006,717 (GRCm39)	F238L	possibly damaging	Het
Aph1a	T	A	3: 95,803,088 (GRCm39)	D180E	probably benign	Het
Atp9b	A	G	18: 80,935,093 (GRCm39)	F201L	probably benign	Het
Btbd9	A	C	17: 30,704,561 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,975,910 (GRCm39)	T768A	probably benign	Het
Casq1	C	T	1: 172,037,965 (GRCm39)		probably benign	Het
Cimap2	C	A	4: 106,467,612 (GRCm39)	M341I	probably benign	Het
Cltc	A	T	11: 86,617,196 (GRCm39)	M351K	probably benign	Het
Cnp	A	G	11: 100,469,877 (GRCm39)	E271G	possibly damaging	Het
Col22a1	T	C	15: 71,845,544 (GRCm39)	D406G	possibly damaging	Het
Cylc2	T	C	4: 51,228,279 (GRCm39)	S117P	probably benign	Het
Cyp2b13	T	C	7: 25,761,072 (GRCm39)	L43P	probably damaging	Het
Cyp3a16	A	G	5: 145,373,267 (GRCm39)	V500A	probably benign	Het
Dclk2	T	C	3: 86,743,683 (GRCm39)	D262G	probably damaging	Het
Dcun1d3	A	C	7: 119,458,742 (GRCm39)	Y98D	probably damaging	Het
Ddx39b	A	G	17: 35,472,464 (GRCm39)	*429W	probably null	Het
Dennd5b	T	C	6: 148,908,335 (GRCm39)	N986S	probably damaging	Het
Dusp9	G	A	X: 72,684,378 (GRCm39)	R182Q	probably benign	Het
Ecpas	A	T	4: 58,834,523 (GRCm39)	I785N	possibly damaging	Het
Edil3	A	G	13: 89,437,589 (GRCm39)	K397E	probably damaging	Het
Ehd1	T	C	19: 6,326,994 (GRCm39)		probably benign	Het
Fam13a	A	T	6: 58,964,152 (GRCm39)	H93Q	probably benign	Het
Farp1	T	C	14: 121,513,716 (GRCm39)	I837T	possibly damaging	Het
Fbxl5	T	A	5: 43,922,771 (GRCm39)	I216F	probably damaging	Het
Gadl1	G	A	9: 115,770,408 (GRCm39)	E74K	probably damaging	Het
Gnpnat1	A	G	14: 45,618,436 (GRCm39)	V122A	probably damaging	Het
Hdac10	C	T	15: 89,011,036 (GRCm39)		probably benign	Het
Heatr5b	T	C	17: 79,128,130 (GRCm39)	S502G	possibly damaging	Het
Hr	C	A	14: 70,801,013 (GRCm39)	A695E	probably damaging	Het
Ift80	A	T	3: 68,825,870 (GRCm39)	I490N	possibly damaging	Het
Ipo11	A	G	13: 106,970,692 (GRCm39)		probably benign	Het
Iqch	T	G	9: 63,432,195 (GRCm39)	Y400S	probably damaging	Het
Jag2	C	T	12: 112,877,266 (GRCm39)	D702N	probably benign	Het
Kiss1r	T	A	10: 79,757,624 (GRCm39)	L326Q	probably damaging	Het
Lrrc42	A	T	4: 107,104,746 (GRCm39)	I73N	probably damaging	Het
Lrrc55	C	T	2: 85,026,880 (GRCm39)	G48D	possibly damaging	Het
Lrrk2	T	C	15: 91,649,884 (GRCm39)	S1674P	probably damaging	Het
Mctp2	A	G	7: 71,739,942 (GRCm39)	L816P	probably damaging	Het
Mipol1	A	T	12: 57,352,918 (GRCm39)	T86S	probably benign	Het
Mkrn3	C	T	7: 62,069,452 (GRCm39)	R113H	probably damaging	Het
Mmp1b	A	G	9: 7,370,849 (GRCm39)	V302A	probably benign	Het
Msc	A	T	1: 14,826,053 (GRCm39)		probably null	Het
Msmo1	C	A	8: 65,180,888 (GRCm39)	V9L	probably benign	Het
Nbeal2	G	A	9: 110,461,072 (GRCm39)	R1630C	probably damaging	Het
Nlgn1	C	T	3: 26,187,850 (GRCm39)	V12I	possibly damaging	Het
Npas3	T	C	12: 54,108,915 (GRCm39)		probably null	Het
Nr2e3	A	G	9: 59,856,355 (GRCm39)		probably benign	Het
Oca2	C	T	7: 55,978,560 (GRCm39)	A576V	probably benign	Het
Or5b21	T	A	19: 12,839,596 (GRCm39)	C152*	probably null	Het
Or6d12	T	C	6: 116,493,409 (GRCm39)	Y224H	probably damaging	Het
Or6z7	T	C	7: 6,484,045 (GRCm39)	T37A	probably benign	Het
Parp6	A	G	9: 59,548,383 (GRCm39)		probably null	Het
Pate13	T	A	9: 35,820,287 (GRCm39)	C4S	probably damaging	Het
Phlpp1	A	T	1: 106,267,231 (GRCm39)	M715L	probably benign	Het
Pi4k2a	G	A	19: 42,101,544 (GRCm39)		probably null	Het
Pik3ap1	A	G	19: 41,316,348 (GRCm39)	S305P	probably damaging	Het
Plcg2	G	A	8: 118,231,054 (GRCm39)	M45I	probably benign	Het
Ppm1m	A	T	9: 106,073,601 (GRCm39)	L317H	probably damaging	Het
Ppp1r21	T	G	17: 88,866,227 (GRCm39)	M341R	probably benign	Het
Prdx3	A	G	19: 60,853,674 (GRCm39)	V217A	possibly damaging	Het
Ptk2b	A	G	14: 66,400,496 (GRCm39)	V773A	possibly damaging	Het
Raly	T	C	2: 154,699,376 (GRCm39)	V60A	probably damaging	Het
Reps1	A	G	10: 17,990,148 (GRCm39)	D420G	probably damaging	Het
Rev1	A	T	1: 38,118,337 (GRCm39)		probably benign	Het
Rgs2	T	G	1: 143,878,650 (GRCm39)		probably benign	Het
Rlf	G	T	4: 121,007,798 (GRCm39)	T394K	probably benign	Het
Rptn	A	T	3: 93,304,792 (GRCm39)	R708S	possibly damaging	Het
Sec23b	T	A	2: 144,414,494 (GRCm39)	M402K	probably benign	Het
Skic2	A	G	17: 35,068,922 (GRCm39)	C26R	probably damaging	Het
Slx9	T	C	10: 77,325,860 (GRCm39)	M170V	possibly damaging	Het
Smpd4	A	G	16: 17,459,992 (GRCm39)		probably benign	Het
Synj2	A	G	17: 6,063,813 (GRCm39)	E434G	probably damaging	Het
Tatdn2	T	A	6: 113,684,326 (GRCm39)	F64I	probably benign	Het
Tex21	A	C	12: 76,263,860 (GRCm39)	H177Q	probably benign	Het
Tln1	T	A	4: 43,535,954 (GRCm39)	Q2077L	probably null	Het
Tnrc6c	T	C	11: 117,611,797 (GRCm39)	V145A	probably benign	Het
Ttn	C	T	2: 76,616,936 (GRCm39)		probably benign	Het
Uggt2	A	G	14: 119,269,670 (GRCm39)	F954S	possibly damaging	Het
Ugt2a1	A	G	5: 87,634,083 (GRCm39)	S175P	probably damaging	Het
Vcl	A	G	14: 21,035,820 (GRCm39)		probably null	Het
Vegfa	A	T	17: 46,336,176 (GRCm39)		probably benign	Het
Vmn2r68	G	A	7: 84,882,769 (GRCm39)	Q328*	probably null	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Ybx3	G	T	6: 131,347,290 (GRCm39)	R282S	probably damaging	Het
Zfp566	T	C	7: 29,777,194 (GRCm39)	H329R	probably damaging	Het
Zfp786	T	C	6: 47,797,868 (GRCm39)	I357V	probably benign	Het
Zfr2	C	A	10: 81,087,083 (GRCm39)		probably null	Het

Other mutations in Dipk1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02203:Dipk1a	APN	5	108,059,647 (GRCm39)	missense	probably benign	0.24
R1799:Dipk1a	UTSW	5	108,057,713 (GRCm39)	missense	probably damaging	0.98
R2048:Dipk1a	UTSW	5	108,057,886 (GRCm39)	missense	probably damaging	0.98
R2169:Dipk1a	UTSW	5	108,057,325 (GRCm39)	nonsense	probably null
R2408:Dipk1a	UTSW	5	108,062,291 (GRCm39)	missense	possibly damaging	0.90
R3085:Dipk1a	UTSW	5	108,062,290 (GRCm39)	missense	probably damaging	1.00
R4446:Dipk1a	UTSW	5	108,072,500 (GRCm39)	missense	probably damaging	1.00
R4979:Dipk1a	UTSW	5	108,057,400 (GRCm39)	nonsense	probably null
R5405:Dipk1a	UTSW	5	108,057,827 (GRCm39)	missense	probably benign	0.00
R5482:Dipk1a	UTSW	5	108,057,529 (GRCm39)	missense	probably damaging	1.00
R6397:Dipk1a	UTSW	5	108,059,504 (GRCm39)	nonsense	probably null
R7006:Dipk1a	UTSW	5	108,058,027 (GRCm39)	missense	probably benign	0.01
R7465:Dipk1a	UTSW	5	108,057,550 (GRCm39)	missense	probably damaging	1.00
R8004:Dipk1a	UTSW	5	108,057,532 (GRCm39)	missense	probably damaging	1.00
R8698:Dipk1a	UTSW	5	108,057,776 (GRCm39)	missense	probably damaging	0.99
R9239:Dipk1a	UTSW	5	108,059,572 (GRCm39)	missense	possibly damaging	0.93
R9330:Dipk1a	UTSW	5	108,059,583 (GRCm39)	missense	probably benign	0.19
R9567:Dipk1a	UTSW	5	108,057,368 (GRCm39)	nonsense	probably null
X0013:Dipk1a	UTSW	5	108,057,713 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGGCCATGATGGTGTGAAC -3'
(R):5'- CTAAACAGACTGGCCTTGAACTTAG -3'

Sequencing Primer
(F):5'- GGTGTGAACAATTGATCCATGCTCC -3'
(R):5'- AGACTGGCCTTGAACTTAGGATCC -3'

Posted On

2015-10-08