Mutagenetix > Incidental Mutation

Incidental Mutation 'R9239:Dipk1a'

700630

Institutional Source

Beutler Lab

Gene Symbol

Dipk1a

Ensembl Gene

ENSMUSG00000029270

Gene Name

divergent protein kinase domain 1A

Synonyms

Fam69a, 2900024C23Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9239 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

108055919-108134951 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 108059572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 127 (E127G)

Ref Sequence

ENSEMBL: ENSMUSP00000031198 (fasta)

Gene Model

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

AlphaFold

Q9D6I7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031198
AA Change: E127G

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031198
Gene: ENSMUSG00000029270
AA Change: E127G

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

probably damaging
Transcript: ENSMUST00000145239
AA Change: E82G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117801
Gene: ENSMUSG00000029270
AA Change: E82G

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (44/44)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	A	G	2: 164,646,608 (GRCm39)		probably null	Het
Aldh1l2	A	G	10: 83,342,496 (GRCm39)	F438S	probably damaging	Het
Alk	T	A	17: 72,256,864 (GRCm39)	N665I	probably benign	Het
Anxa4	T	A	6: 86,734,812 (GRCm39)	T59S	probably benign	Het
B3gnt8	ACCCC	ACCC	7: 25,327,676 (GRCm39)		probably null	Het
Cabs1	G	A	5: 88,127,385 (GRCm39)	R12Q	probably benign	Het
Cep152	A	G	2: 125,425,830 (GRCm39)	V845A	probably benign	Het
Dsg1a	T	A	18: 20,473,750 (GRCm39)	V941E	probably damaging	Het
Fbxo11	G	T	17: 88,316,522 (GRCm39)	H284N		Het
Fubp1	A	G	3: 151,923,486 (GRCm39)	E98G	probably damaging	Het
Fyco1	A	G	9: 123,626,637 (GRCm39)	I1358T	probably damaging	Het
Ginm1	T	C	10: 7,649,825 (GRCm39)	N156S	possibly damaging	Het
Gm3739	T	C	14: 18,505,221 (GRCm39)	Y101C	probably damaging	Het
Ide	T	C	19: 37,307,898 (GRCm39)	N38S		Het
Itgb4	T	C	11: 115,898,130 (GRCm39)	V1644A	probably damaging	Het
Itpka	A	G	2: 119,580,023 (GRCm39)	D254G	probably damaging	Het
Kat7	T	A	11: 95,197,020 (GRCm39)	R6S	probably benign	Het
Klhl40	A	T	9: 121,607,637 (GRCm39)	T266S	probably benign	Het
Lratd1	A	G	12: 14,200,185 (GRCm39)	W181R	probably damaging	Het
Mmaa	T	C	8: 79,995,856 (GRCm39)	D289G	probably damaging	Het
Muc5ac	A	T	7: 141,353,954 (GRCm39)	D851V	probably damaging	Het
Or1e29	A	G	11: 73,667,346 (GRCm39)	V269A	probably benign	Het
Or52n4	G	T	7: 104,293,746 (GRCm39)	H278N	probably damaging	Het
Or6b3	T	C	1: 92,439,454 (GRCm39)	T99A	probably benign	Het
Pcdh17	T	G	14: 84,770,649 (GRCm39)	I1042M	probably benign	Het
Pipox	A	G	11: 77,774,765 (GRCm39)	I106T	probably benign	Het
Ppcs	C	T	4: 119,276,235 (GRCm39)	V290M	possibly damaging	Het
Rnasel	T	A	1: 153,630,097 (GRCm39)	N204K	probably damaging	Het
Runx1	A	G	16: 92,402,935 (GRCm39)	Y336H	probably damaging	Het
Sell	A	G	1: 163,893,176 (GRCm39)	I131V	possibly damaging	Het
Serpina3f	A	G	12: 104,184,710 (GRCm39)	R285G	possibly damaging	Het
Slc25a2	A	T	18: 37,771,169 (GRCm39)	M120K	possibly damaging	Het
Slc47a1	A	T	11: 61,250,344 (GRCm39)		probably null	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Spats2l	A	G	1: 57,871,257 (GRCm39)		probably benign	Het
Spopfm1	T	A	3: 94,173,871 (GRCm39)	V289E	probably benign	Het
Taf1b	T	A	12: 24,606,015 (GRCm39)	L431H	probably damaging	Het
Tectb	CT	C	19: 55,181,094 (GRCm39)		probably null	Het
Thsd7b	G	A	1: 130,087,453 (GRCm39)		probably null	Het
Tmtc4	A	G	14: 123,165,078 (GRCm39)	Y594H	possibly damaging	Het
Trim33	T	C	3: 103,237,453 (GRCm39)	F599L	probably benign	Het
Vcl	A	G	14: 21,072,092 (GRCm39)	D819G	probably damaging	Het
Vmn1r43	G	A	6: 89,846,877 (GRCm39)	T203M	probably damaging	Het
Vmn2r1	G	T	3: 64,011,959 (GRCm39)	V607L	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
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
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'- TATTCCAGATAGAGTCTCTGATGGAAG -3'
(R):5'- AGTCACAGATCTGAGAGGCC -3'

Sequencing Primer
(F):5'- GTCTCTGATGGAAGTAAAAGAATGTC -3'
(R):5'- AGAGGCCCAGTGCTTGTTTAC -3'

Posted On

2022-02-07