Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Dipk1a'

265572

Institutional Source

Beutler Lab

Gene Symbol

Dipk1a

Ensembl Gene

ENSMUSG00000029270

Gene Name

divergent protein kinase domain 1A

Synonyms

Fam69a, 2900024C23Rik

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108055919-108134951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 108062290 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 28 (D28E)

Ref Sequence

ENSEMBL: ENSMUSP00000117801 (fasta)

Gene Model

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

AlphaFold

Q9D6I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031198
AA Change: D73E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: D73E

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 damaging
Transcript: ENSMUST00000145239
AA Change: D28E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270
AA Change: D28E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153172
AA Change: D78E

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114892
Gene: ENSMUSG00000029270
AA Change: D78E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	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
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
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'- AACACAGCTCTTAGAAGATAGAGAC -3'
(R):5'- TCTGTGTATACCCCAGAAGCAAAG -3'

Sequencing Primer
(F):5'- TTAAGAAAATCTACAGCCACAGAGAG -3'
(R):5'- GTAAATGCAAAGCCTGAGTTCCTCTC -3'

Posted On

2015-02-05