Mutagenetix > Incidental Mutation

Incidental Mutation 'R5482:Dipk1a'

434379

Institutional Source

Beutler Lab

Gene Symbol

Dipk1a

Ensembl Gene

ENSMUSG00000029270

Gene Name

divergent protein kinase domain 1A

Synonyms

Fam69a, 2900024C23Rik

MMRRC Submission

043043-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5482 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108055919-108134951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 108057529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 343 (C343S)

Ref Sequence

ENSEMBL: ENSMUSP00000031198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031198] [ENSMUST00000082223] [ENSMUST00000145239] [ENSMUST00000153172] [ENSMUST00000153590]

AlphaFold

Q9D6I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031198
AA Change: C343S

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

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: C343S

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

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270

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 benign
Transcript: ENSMUST00000153172

SMART Domains

Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153590

SMART Domains

Protein: ENSMUSP00000123474
Gene: ENSMUSG00000058558

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L18p	1	123	6.3e-37	PFAM
Pfam:Ribosomal_L18_c	142	163	2.7e-8	PFAM

Meta Mutation Damage Score

0.9447

Coding Region Coverage

1x: 98.9%
3x: 97.4%
10x: 94.5%
20x: 87.6%

Validation Efficiency

99% (68/69)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,139,036 (GRCm39)		noncoding transcript	Het
Abca15	T	C	7: 119,968,370 (GRCm39)	L801P	probably damaging	Het
Acap3	A	G	4: 155,984,613 (GRCm39)	D212G	probably benign	Het
Acsl6	G	A	11: 54,217,964 (GRCm39)	D166N	probably damaging	Het
Acy1	T	C	9: 106,311,838 (GRCm39)		probably benign	Het
Adgrl3	A	G	5: 81,942,360 (GRCm39)	N1368S	probably damaging	Het
Akap5	T	C	12: 76,375,600 (GRCm39)	I344T	probably benign	Het
Aplp1	A	G	7: 30,139,600 (GRCm39)	F399S	probably damaging	Het
Arap3	A	G	18: 38,107,727 (GRCm39)	S1302P	possibly damaging	Het
Bik	T	G	15: 83,428,335 (GRCm39)	V121G	probably damaging	Het
Birc6	A	T	17: 74,948,777 (GRCm39)	M3069L	possibly damaging	Het
Birc6	A	G	17: 74,969,685 (GRCm39)	T4237A	probably damaging	Het
Btn2a2	T	C	13: 23,670,557 (GRCm39)	N59D	probably benign	Het
Cabyr	A	G	18: 12,884,496 (GRCm39)	S328G	possibly damaging	Het
Cfap57	C	T	4: 118,426,838 (GRCm39)	G1067R	probably benign	Het
Cryl1	A	T	14: 57,550,469 (GRCm39)	F132I	probably damaging	Het
Dnah8	G	A	17: 31,019,521 (GRCm39)	E3865K	probably damaging	Het
Dock3	G	A	9: 106,855,937 (GRCm39)	R741*	probably null	Het
Fsip2	C	T	2: 82,815,654 (GRCm39)	L3796F	possibly damaging	Het
Gm10722	A	C	9: 3,001,041 (GRCm39)	Y39S	probably benign	Het
Gm5535	C	A	2: 144,016,492 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,695,055 (GRCm39)	M202K	probably damaging	Het
Hecw2	T	A	1: 53,965,360 (GRCm39)	M489L	probably benign	Het
Lrrk1	A	G	7: 65,980,418 (GRCm39)	I254T	probably benign	Het
Lrrn3	A	C	12: 41,502,387 (GRCm39)	C643W	probably damaging	Het
Lrrn3	G	A	12: 41,502,386 (GRCm39)	L644F	probably benign	Het
Nr2f6	A	T	8: 71,827,182 (GRCm39)	I373N	probably damaging	Het
Nt5dc3	A	G	10: 86,647,395 (GRCm39)	Y130C	probably damaging	Het
Or5b12	T	C	19: 12,897,269 (GRCm39)	T135A	probably damaging	Het
Or6c3	T	C	10: 129,308,947 (GRCm39)	Y129H	probably benign	Het
Otogl	T	A	10: 107,657,802 (GRCm39)	I1043F	probably damaging	Het
Padi3	G	A	4: 140,523,154 (GRCm39)	T302I	probably damaging	Het
Pcdhgb5	A	G	18: 37,864,585 (GRCm39)	N127D	probably damaging	Het
Pign	A	G	1: 105,474,435 (GRCm39)	F876L	probably benign	Het
Pip5k1c	A	G	10: 81,128,897 (GRCm39)	E2G	probably damaging	Het
Ppp1r18	G	A	17: 36,184,771 (GRCm39)	E141K	probably damaging	Het
Ralbp1	A	C	17: 66,168,563 (GRCm39)	Y247*	probably null	Het
Ripply2	A	G	9: 86,897,620 (GRCm39)	E8G	possibly damaging	Het
Rufy3	TAAGCA	TA	5: 88,785,191 (GRCm39)		probably null	Het
Skint2	T	G	4: 112,483,076 (GRCm39)	C160W	probably damaging	Het
Sun2	C	T	15: 79,621,712 (GRCm39)	R172Q	probably benign	Het
Syna	A	G	5: 134,588,028 (GRCm39)	L307P	possibly damaging	Het
Tlcd3b	A	G	7: 126,426,660 (GRCm39)	T78A	possibly damaging	Het
Trappc12	T	C	12: 28,741,324 (GRCm39)	K795R	probably damaging	Het
Trmt9b	A	T	8: 36,979,203 (GRCm39)	M269L	probably benign	Het
Ttll11	A	G	2: 35,642,418 (GRCm39)	S638P	probably damaging	Het
Usp2	G	A	9: 44,000,480 (GRCm39)		probably null	Het
Vmn2r26	A	T	6: 124,038,285 (GRCm39)	E620V	possibly damaging	Het
Wdr36	A	T	18: 32,974,957 (GRCm39)	H103L	probably benign	Het
Wnt5b	T	C	6: 119,423,392 (GRCm39)	T78A	probably benign	Het
Zc2hc1b	C	T	10: 13,029,270 (GRCm39)	R146Q	probably damaging	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
R4654:Dipk1a	UTSW	5	108,057,982 (GRCm39)	splice site	probably null
R4979:Dipk1a	UTSW	5	108,057,400 (GRCm39)	nonsense	probably null
R5405:Dipk1a	UTSW	5	108,057,827 (GRCm39)	missense	probably benign	0.00
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'- CTGTGACTTTGAGAGCAATACAAG -3'
(R):5'- ACCATCATGGCCCAGAAAGG -3'

Sequencing Primer
(F):5'- CTTTGAGAGCAATACAAGAATAAAGC -3'
(R):5'- TTCCATGGCCCCTATGGAAAC -3'

Posted On

2016-10-06