Mutagenetix > Incidental Mutation

Incidental Mutation 'R8491:Gm12258'

658005

Institutional Source

Beutler Lab

Gene Symbol

Gm12258

Ensembl Gene

ENSMUSG00000072915

Gene Name

predicted gene 12258

Synonyms

MMRRC Submission

067933-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8491 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58737984-58752782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58745122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

Ref Sequence

ENSEMBL: ENSMUSP00000117644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000139337]

AlphaFold

Q5NC63

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: T18A

Domain	Start	End	E-Value	Type
KRAB	56	116	1.8e-32	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,903,708 (GRCm39)	I44F	unknown	Het
Agap1	A	G	1: 89,537,294 (GRCm39)	E100G	probably damaging	Het
Aoc3	G	T	11: 101,223,042 (GRCm39)	R426L	probably benign	Het
Aspm	T	G	1: 139,385,433 (GRCm39)	L359R	probably damaging	Het
Atp8b2	A	G	3: 89,865,676 (GRCm39)	S75P	probably damaging	Het
Bcl9l	A	G	9: 44,412,065 (GRCm39)	E17G	probably benign	Het
Casc3	G	T	11: 98,713,977 (GRCm39)	R403L	probably benign	Het
Cdh16	T	C	8: 105,343,681 (GRCm39)	D605G	probably damaging	Het
Cdh2	A	G	18: 16,757,775 (GRCm39)		probably null	Het
Cers5	T	A	15: 99,638,831 (GRCm39)	K161N	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap3	A	T	13: 64,933,157 (GRCm39)	D454E	probably damaging	Het
Cxcl15	T	A	5: 90,943,089 (GRCm39)	C30*	probably null	Het
Cyp4a12a	C	A	4: 115,158,650 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,000 (GRCm39)	I577N	probably benign	Het
Dusp6	C	A	10: 99,102,081 (GRCm39)	R210S	possibly damaging	Het
Faxc	T	A	4: 21,993,319 (GRCm39)	M321K	probably damaging	Het
Fez2	C	A	17: 78,692,200 (GRCm39)	V340L	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdnf	A	G	15: 7,864,272 (GRCm39)	I228V	possibly damaging	Het
Gm5460	T	C	14: 33,761,740 (GRCm39)	L194P	probably damaging	Het
Gm6040	T	G	8: 21,407,135 (GRCm39)	R28S	possibly damaging	Het
Gmps	A	G	3: 63,921,779 (GRCm39)	E594G	probably benign	Het
Hspg2	T	C	4: 137,281,030 (GRCm39)	V3334A	probably benign	Het
Idh3a	T	C	9: 54,506,963 (GRCm39)		probably null	Het
Ins1	A	G	19: 52,252,808 (GRCm39)		probably benign	Het
Mug1	A	T	6: 121,859,688 (GRCm39)	D1229V	probably damaging	Het
Ndufs1	T	C	1: 63,196,384 (GRCm39)	D347G	probably damaging	Het
Or52d3	G	A	7: 104,229,242 (GRCm39)	V130I	probably damaging	Het
Or8k25	A	G	2: 86,244,099 (GRCm39)	I99T	probably benign	Het
Pclo	C	A	5: 14,565,244 (GRCm39)	N3K	unknown	Het
Pigl	A	G	11: 62,364,293 (GRCm39)	R112G	probably null	Het
Prkcq	T	C	2: 11,284,335 (GRCm39)	Y502H	probably damaging	Het
Psg16	T	C	7: 16,824,437 (GRCm39)	Y74H	probably damaging	Het
Psme4	G	A	11: 30,722,161 (GRCm39)	G60D	possibly damaging	Het
Rpp14	A	T	14: 8,083,925 (GRCm38)	Q27L	possibly damaging	Het
Serpini2	A	C	3: 75,159,822 (GRCm39)	C315G	probably damaging	Het
Slitrk3	A	G	3: 72,958,592 (GRCm39)	I60T	possibly damaging	Het
Svil	T	C	18: 5,106,678 (GRCm39)	Y1436H	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tob1	A	G	11: 94,105,115 (GRCm39)	D217G	probably benign	Het
Trim21	A	C	7: 102,208,689 (GRCm39)	D343E	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trmt13	T	C	3: 116,376,228 (GRCm39)	R388G	probably benign	Het
Ubqlnl	A	G	7: 103,798,582 (GRCm39)	V305A	probably benign	Het
Ushbp1	A	G	8: 71,845,041 (GRCm39)	V244A	probably benign	Het
Vdac2	T	A	14: 21,887,838 (GRCm39)	N60K	possibly damaging	Het
Vwa5a	A	G	9: 38,652,476 (GRCm39)	E753G	probably damaging	Het
Washc4	A	G	10: 83,411,987 (GRCm39)	D706G	probably benign	Het
Zbtb5	T	C	4: 44,995,090 (GRCm39)	D98G	probably damaging	Het
Zfp53	A	G	17: 21,729,621 (GRCm39)	I551M	probably benign	Het
Zfp958	G	T	8: 4,676,215 (GRCm39)	R61I	probably damaging	Het

Other mutations in Gm12258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Gm12258	APN	11	58,746,896 (GRCm39)	missense	probably benign
IGL01391:Gm12258	APN	11	58,739,520 (GRCm39)	missense	probably benign	0.03
IGL03081:Gm12258	APN	11	58,749,085 (GRCm39)	missense	probably benign	0.07
R1521:Gm12258	UTSW	11	58,750,381 (GRCm39)	missense	probably damaging	1.00
R1653:Gm12258	UTSW	11	58,749,113 (GRCm39)	missense	possibly damaging	0.68
R3895:Gm12258	UTSW	11	58,749,375 (GRCm39)	nonsense	probably null
R4065:Gm12258	UTSW	11	58,749,352 (GRCm39)	missense	probably benign	0.08
R4066:Gm12258	UTSW	11	58,749,352 (GRCm39)	missense	probably benign	0.08
R4747:Gm12258	UTSW	11	58,750,422 (GRCm39)	missense	probably damaging	1.00
R4803:Gm12258	UTSW	11	58,749,856 (GRCm39)	missense	probably benign	0.06
R5554:Gm12258	UTSW	11	58,749,294 (GRCm39)	missense	possibly damaging	0.92
R5896:Gm12258	UTSW	11	58,750,457 (GRCm39)	missense	probably damaging	1.00
R5956:Gm12258	UTSW	11	58,750,285 (GRCm39)	missense	probably benign	0.02
R6277:Gm12258	UTSW	11	58,745,113 (GRCm39)	missense	probably damaging	1.00
R7166:Gm12258	UTSW	11	58,749,299 (GRCm39)	missense
R7728:Gm12258	UTSW	11	58,750,518 (GRCm39)	missense	unknown
R8161:Gm12258	UTSW	11	58,750,138 (GRCm39)	missense	unknown
R8268:Gm12258	UTSW	11	58,745,084 (GRCm39)	critical splice acceptor site	probably null
R8878:Gm12258	UTSW	11	58,750,112 (GRCm39)	missense	unknown
R9381:Gm12258	UTSW	11	58,750,007 (GRCm39)	missense	unknown
R9409:Gm12258	UTSW	11	58,745,119 (GRCm39)	missense
R9546:Gm12258	UTSW	11	58,749,922 (GRCm39)	missense	unknown
R9723:Gm12258	UTSW	11	58,750,448 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1186:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1189:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1191:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TCGGAGTCAGATGCATTTAAGTG -3'
(R):5'- GCACAAGACCCAGTTCAGTC -3'

Sequencing Primer
(F):5'- TCAGATGCATTTAAGTGGGAAAC -3'
(R):5'- GACCCAGTTCAGTCACTAGC -3'

Posted On

2021-01-18