Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4260001:Gm17669'

554525

Institutional Source

Beutler Lab

Gene Symbol

Gm17669

Ensembl Gene

ENSMUSG00000091695

Gene Name

predicted gene, 17669

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.891) question?

Stock #

PIT4260001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67695464-67695905 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67695508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 18 (R18G)

Ref Sequence

ENSEMBL: ENSMUSP00000128232 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115050] [ENSMUST00000163749]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000115050

SMART Domains

Protein: ENSMUSP00000110702
Gene: ENSMUSG00000024533

Domain	Start	End	E-Value	Type
PDB:4EFH\|B	106	162	9e-6	PDB
low complexity region	219	246	N/A	INTRINSIC
low complexity region	269	280	N/A	INTRINSIC
SCOP:d1zbdb_	317	390	4e-7	SMART
low complexity region	468	478	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000163749
AA Change: R18G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128232
Gene: ENSMUSG00000091695
AA Change: R18G

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29e	3	42	1.2e-26	PFAM
low complexity region	126	154	N/A	INTRINSIC

Coding Region Coverage

1x: 92.7%
3x: 90.5%
10x: 84.8%
20x: 72.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	A	T	18: 38,129,948 (GRCm39)	L71Q	probably benign	Het
Atp10a	A	T	7: 58,440,866 (GRCm39)	K504*	probably null	Het
AW551984	T	C	9: 39,504,275 (GRCm39)	T564A	probably benign	Het
Cep128	A	G	12: 91,265,808 (GRCm39)	V268A	probably benign	Het
Clgn	T	C	8: 84,149,753 (GRCm39)	M418T	probably damaging	Het
Col12a1	A	G	9: 79,558,662 (GRCm39)		probably null	Het
Col4a3	A	T	1: 82,660,482 (GRCm39)	E933D	unknown	Het
Csmd1	A	T	8: 16,120,327 (GRCm39)	L1826Q	probably damaging	Het
Enpp2	C	T	15: 54,707,774 (GRCm39)		probably null	Het
Ep400	G	A	5: 110,841,037 (GRCm39)	R1832*	probably null	Het
Exoc5	T	C	14: 49,286,222 (GRCm39)	K135R	probably benign	Het
Fam83h	A	G	15: 75,873,746 (GRCm39)	F1197S	probably damaging	Het
Gabrg1	T	C	5: 70,939,623 (GRCm39)	I170V	probably benign	Het
Gigyf2	C	T	1: 87,346,828 (GRCm39)	R610C	unknown	Het
Gm16440	T	C	14: 17,575,339 (GRCm39)	E119G	probably benign	Het
Gxylt1	A	G	15: 93,159,708 (GRCm39)	S100P	probably damaging	Het
H3c10	C	A	13: 21,902,089 (GRCm39)	S87R	possibly damaging	Het
Hacd4	C	G	4: 88,316,342 (GRCm39)	R259T	unknown	Het
Hacd4	T	A	4: 88,316,343 (GRCm39)	R259*	probably null	Het
Hivep3	T	C	4: 119,956,379 (GRCm39)	L1565P	probably damaging	Het
Iqsec1	T	A	6: 90,667,471 (GRCm39)	D218V	probably damaging	Het
Matn2	C	T	15: 34,428,877 (GRCm39)	T747I	possibly damaging	Het
Myl6b	T	A	10: 128,332,175 (GRCm39)	Q97L	possibly damaging	Het
Or5d18	A	T	2: 87,865,126 (GRCm39)	M119K	probably damaging	Het
Pcdh1	A	G	18: 38,336,419 (GRCm39)	V72A	probably damaging	Het
Pira2	T	C	7: 3,845,173 (GRCm39)	T362A	probably benign	Het
Pira2	C	T	7: 3,845,169 (GRCm39)	S363N	probably benign	Het
Pira2	G	C	7: 3,845,172 (GRCm39)	T362S	probably benign	Het
Pkhd1	A	G	1: 20,293,130 (GRCm39)	V2830A	possibly damaging	Het
Plpp1	A	G	13: 112,993,419 (GRCm39)	D118G	probably damaging	Het
Polr2a	A	G	11: 69,626,793 (GRCm39)	S1514P	possibly damaging	Het
Pou3f2	G	T	4: 22,487,291 (GRCm39)	Q281K	possibly damaging	Het
Prl7a2	A	T	13: 27,843,259 (GRCm39)	Y181*	probably null	Het
Prpf4b	T	A	13: 35,068,274 (GRCm39)	S368T	probably benign	Het
Prss45	A	G	9: 110,667,513 (GRCm39)	D53G	probably benign	Het
Ryr2	T	A	13: 11,609,641 (GRCm39)	H4395L	possibly damaging	Het
Spp2	G	T	1: 88,338,927 (GRCm39)	A97S	probably benign	Het
Strn4	T	C	7: 16,556,434 (GRCm39)	F99S	probably damaging	Het
Tcaf2	T	A	6: 42,619,739 (GRCm39)	H96L	probably damaging	Het
Tenm2	T	C	11: 36,054,557 (GRCm39)	D601G	probably damaging	Het
Trpm6	A	T	19: 18,803,166 (GRCm39)	M870L	possibly damaging	Het
Ttn	T	C	2: 76,773,569 (GRCm39)	T2351A	unknown	Het
Xirp2	T	A	2: 67,341,941 (GRCm39)	I1394K	possibly damaging	Het
Zfc3h1	G	T	10: 115,226,794 (GRCm39)	D284Y	probably damaging	Het

Other mutations in Gm17669

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4458001:Gm17669	UTSW	18	67,695,819 (GRCm39)	frame shift	probably null
PIT4576001:Gm17669	UTSW	18	67,695,819 (GRCm39)	frame shift	probably null
R5198:Gm17669	UTSW	18	67,695,626 (GRCm39)	missense	probably benign	0.22
R5214:Gm17669	UTSW	18	67,695,479 (GRCm39)	missense	possibly damaging	0.95
R5440:Gm17669	UTSW	18	67,695,526 (GRCm39)	missense	possibly damaging	0.75
R7196:Gm17669	UTSW	18	67,695,572 (GRCm39)	missense	probably damaging	1.00
R9495:Gm17669	UTSW	18	67,695,682 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- AGAATCATTAAGCCCTTATTGCAG -3'
(R):5'- TTCACAAGGGCCTTGATGG -3'

Sequencing Primer
(F):5'- GTCAACTTGCTACAAGCTAGAGTCG -3'
(R):5'- TTGATGGCCTCTGCGCG -3'

Posted On

2019-06-07