Mutagenetix > Incidental Mutation

Incidental Mutation 'R5520:Gm17019'

431498

Institutional Source

Beutler Lab

Gene Symbol

Gm17019

Ensembl Gene

ENSMUSG00000091897

Gene Name

predicted gene 17019

Synonyms

MMRRC Submission

043079-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5520 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

15078964-15083012 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15082819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 45 (M45K)

Ref Sequence

ENSEMBL: ENSMUSP00000127520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167908]

AlphaFold

K7N6W5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167908
AA Change: M45K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127520
Gene: ENSMUSG00000091897
AA Change: M45K

Domain	Start	End	E-Value	Type
Pfam:Takusan	50	134	1.1e-30	PFAM
low complexity region	247	254	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 97.6%
10x: 94.8%
20x: 88.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	A	4: 144,504,594 (GRCm39)	T186S	probably benign	Het
AI467606	C	T	7: 126,691,998 (GRCm39)	P191L	probably benign	Het
Aoc1l1	C	A	6: 48,952,728 (GRCm39)	Q218K	possibly damaging	Het
Arl9	T	C	5: 77,154,440 (GRCm39)	V56A	probably damaging	Het
Cacng5	T	C	11: 107,768,248 (GRCm39)	Q253R	probably benign	Het
Cc2d1b	T	C	4: 108,483,556 (GRCm39)	M331T	possibly damaging	Het
Cep97	A	G	16: 55,735,659 (GRCm39)	S380P	probably benign	Het
Clpx	A	T	9: 65,224,730 (GRCm39)	K153*	probably null	Het
Dclk2	A	G	3: 86,827,147 (GRCm39)	S111P	probably damaging	Het
E2f7	A	G	10: 110,595,806 (GRCm39)	E167G	probably damaging	Het
Edn1	T	C	13: 42,455,436 (GRCm39)		probably null	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fbxw18	G	T	9: 109,520,589 (GRCm39)	H257N	probably benign	Het
Ftsj3	T	C	11: 106,146,414 (GRCm39)	T22A	probably benign	Het
Gpr162	T	C	6: 124,837,876 (GRCm39)	D258G	probably damaging	Het
Grk1	T	A	8: 13,459,305 (GRCm39)	D285E	probably benign	Het
Herc6	A	T	6: 57,624,105 (GRCm39)	D625V	possibly damaging	Het
Igkv1-135	C	T	6: 67,587,324 (GRCm39)	P65L	possibly damaging	Het
Lepr	T	C	4: 101,602,734 (GRCm39)	L174P	probably benign	Het
Nphp3	A	G	9: 103,901,872 (GRCm39)	S689G	probably benign	Het
Or14c44	T	A	7: 86,062,064 (GRCm39)	S165T	probably benign	Het
Or5w20	T	C	2: 87,726,753 (GRCm39)		probably benign	Het
Phf8-ps	A	G	17: 33,284,367 (GRCm39)	Y812H	probably benign	Het
Plxnb2	T	G	15: 89,051,746 (GRCm39)	T158P	possibly damaging	Het
Pramel32	A	C	4: 88,548,277 (GRCm39)	S43A	probably damaging	Het
R3hcc1	T	A	14: 69,936,057 (GRCm39)	K437*	probably null	Het
Rnf213	C	A	11: 119,324,325 (GRCm39)	H1428Q	probably damaging	Het
Ro60	A	T	1: 143,646,509 (GRCm39)	S79T	probably benign	Het
Spata31e2	A	T	1: 26,724,900 (GRCm39)	N93K	probably benign	Het
Ssx2ip	G	A	3: 146,143,066 (GRCm39)	R548H	probably benign	Het
Trim23	C	T	13: 104,324,035 (GRCm39)	R165C	probably damaging	Het
Ulk2	T	G	11: 61,698,970 (GRCm39)	T405P	probably damaging	Het
Unkl	G	A	17: 25,424,584 (GRCm39)	V204I	probably damaging	Het
Vmn1r43	T	C	6: 89,846,728 (GRCm39)	T253A	probably damaging	Het
Zfp534	T	C	4: 147,759,887 (GRCm39)	I261V	possibly damaging	Het

Other mutations in Gm17019

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:Gm17019	APN	5	15,080,266 (GRCm39)	missense	possibly damaging	0.95
R3617:Gm17019	UTSW	5	15,081,081 (GRCm39)	missense	possibly damaging	0.88
R5175:Gm17019	UTSW	5	15,082,817 (GRCm39)	missense	possibly damaging	0.92
R7424:Gm17019	UTSW	5	15,079,386 (GRCm39)	missense	probably damaging	1.00
R7758:Gm17019	UTSW	5	15,079,300 (GRCm39)	makesense	probably null
R7762:Gm17019	UTSW	5	15,081,006 (GRCm39)	missense	probably benign	0.00
R7842:Gm17019	UTSW	5	15,081,049 (GRCm39)	missense	possibly damaging	0.58
R8898:Gm17019	UTSW	5	15,081,798 (GRCm39)	missense	possibly damaging	0.88
R9127:Gm17019	UTSW	5	15,081,113 (GRCm39)	nonsense	probably null
R9739:Gm17019	UTSW	5	15,082,841 (GRCm39)	nonsense	probably null
Z1176:Gm17019	UTSW	5	15,083,011 (GRCm39)	start gained	probably benign
Z1177:Gm17019	UTSW	5	15,082,945 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGCCTTAGGGGATGGAAAAG -3'
(R):5'- CTGCAGAATTCTTAGCAACCTCTG -3'

Sequencing Primer
(F):5'- CCTTAGGGGATGGAAAAGTACTGTTC -3'
(R):5'- TAGCAACCTCTGTGATGTCACCAG -3'

Posted On

2016-10-05