Mutagenetix > Incidental Mutation

Incidental Mutation 'R6539:Gm4924'

520608

Institutional Source

Beutler Lab

Gene Symbol

Gm4924

Ensembl Gene

ENSMUSG00000073427

Gene Name

predicted gene 4924

Synonyms

mIF1

MMRRC Submission

044665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.174) question?

Stock #

R6539 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82190087-82215477 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 82214358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165906] [ENSMUST00000210025] [ENSMUST00000210381] [ENSMUST00000211099]

AlphaFold

A0A1B0GR71

Predicted Effect

probably benign
Transcript: ENSMUST00000165906

SMART Domains

Protein: ENSMUSP00000131819
Gene: ENSMUSG00000073427

Domain	Start	End	E-Value	Type
ZnF_C2H2	34	56	2.4e-3	SMART
ZnF_C2H2	62	84	8.94e-3	SMART
ZnF_C2H2	90	112	9.58e-3	SMART
ZnF_C2H2	146	168	9.08e-4	SMART
ZnF_C2H2	174	196	6.78e-3	SMART
ZnF_C2H2	202	224	8.81e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000210025

Predicted Effect

unknown
Transcript: ENSMUST00000210381
AA Change: Y719N

Predicted Effect

probably benign
Transcript: ENSMUST00000211078

Predicted Effect

probably benign
Transcript: ENSMUST00000211099

Meta Mutation Damage Score

0.5958

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,272,616 (GRCm39)	A513V	possibly damaging	Het
Ano8	T	C	8: 71,937,127 (GRCm39)	D147G	probably damaging	Het
Apba1	A	G	19: 23,913,924 (GRCm39)	D649G	probably damaging	Het
Atp6v0d1	T	C	8: 106,251,606 (GRCm39)	I329V	probably benign	Het
Card6	T	A	15: 5,134,873 (GRCm39)	N110I	probably damaging	Het
Cfap410	A	G	10: 77,820,322 (GRCm39)	T231A	probably benign	Het
Chn2	T	A	6: 54,150,446 (GRCm39)		probably null	Het
Cyp46a1	G	A	12: 108,319,416 (GRCm39)		probably null	Het
Daam2	T	A	17: 49,776,739 (GRCm39)	H782L	probably damaging	Het
Defa26	A	G	8: 22,108,262 (GRCm39)	I22V	possibly damaging	Het
Dlk1	A	G	12: 109,426,245 (GRCm39)	M278V	probably benign	Het
Dync2h1	T	C	9: 7,159,478 (GRCm39)		probably null	Het
Ehmt1	T	A	2: 24,694,779 (GRCm39)	H1056L	probably damaging	Het
Ephb3	G	A	16: 21,040,218 (GRCm39)	D527N	probably benign	Het
Flt1	T	C	5: 147,515,186 (GRCm39)	K1079E	probably benign	Het
Fndc3b	C	T	3: 27,592,206 (GRCm39)	G231R	probably benign	Het
Ifrd1	G	A	12: 40,253,434 (GRCm39)	A426V	probably damaging	Het
Ift140	T	C	17: 25,313,643 (GRCm39)	L1358P	possibly damaging	Het
Igkv5-37	A	T	6: 69,940,800 (GRCm39)	S16T	probably benign	Het
Map3k9	A	G	12: 81,778,966 (GRCm39)	L449P	probably damaging	Het
Mdm1	T	C	10: 117,986,863 (GRCm39)		probably null	Het
Mmrn1	A	T	6: 60,964,168 (GRCm39)	T1056S	probably benign	Het
Mroh2b	C	T	15: 4,935,056 (GRCm39)	H164Y	probably damaging	Het
Muc16	T	C	9: 18,548,621 (GRCm39)	T5891A	probably benign	Het
Nagpa	T	C	16: 5,021,565 (GRCm39)	E62G	possibly damaging	Het
Nek10	T	A	14: 14,860,789 (GRCm38)	V475D	possibly damaging	Het
Or4c101	T	C	2: 88,389,864 (GRCm39)	F6S	probably damaging	Het
Or5ac15	A	C	16: 58,940,114 (GRCm39)	S106R	probably damaging	Het
Pan3	T	C	5: 147,387,463 (GRCm39)	I144T	possibly damaging	Het
Parvg	T	A	15: 84,225,541 (GRCm39)	D349E	probably damaging	Het
Pitpna	A	G	11: 75,489,127 (GRCm39)	Y58C	probably damaging	Het
Ppp4r3b	T	A	11: 29,168,503 (GRCm39)	D73E	probably benign	Het
Preb	A	G	5: 31,113,420 (GRCm39)	V338A	probably benign	Het
Sec23a	T	C	12: 59,031,998 (GRCm39)	T411A	probably benign	Het
Smc6	A	G	12: 11,347,011 (GRCm39)		probably null	Het
Stxbp5l	A	G	16: 36,950,177 (GRCm39)	M1056T	probably damaging	Het
Tbcd	T	A	11: 121,447,813 (GRCm39)		probably null	Het
Tent5a	T	C	9: 85,208,614 (GRCm39)	I70V	possibly damaging	Het
Tpx2	G	T	2: 152,718,518 (GRCm39)	E174*	probably null	Het
Trpc4ap	G	T	2: 155,478,178 (GRCm39)	P663T	probably benign	Het
Unc5cl	G	A	17: 48,772,045 (GRCm39)	G441D	probably damaging	Het
Xrcc2	G	T	5: 25,897,530 (GRCm39)	R140S	probably benign	Het
Zfc3h1	G	A	10: 115,247,907 (GRCm39)	E1037K	probably benign	Het
Zfhx4	A	T	3: 5,309,168 (GRCm39)	Q798L	probably damaging	Het
Zfp94	G	A	7: 24,002,716 (GRCm39)	T236M	probably damaging	Het

Other mutations in Gm4924

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3431:Gm4924	UTSW	10	82,214,864 (GRCm39)	nonsense	probably null
R5566:Gm4924	UTSW	10	82,214,475 (GRCm39)	missense	possibly damaging	0.46
R6170:Gm4924	UTSW	10	82,213,065 (GRCm39)	nonsense	probably null
R6258:Gm4924	UTSW	10	82,213,307 (GRCm39)	intron	probably benign
R6861:Gm4924	UTSW	10	82,214,948 (GRCm39)	nonsense	probably null
R7077:Gm4924	UTSW	10	82,215,057 (GRCm39)	missense	unknown
R7128:Gm4924	UTSW	10	82,214,533 (GRCm39)	missense	unknown
R7166:Gm4924	UTSW	10	82,214,035 (GRCm39)	missense	unknown
R7186:Gm4924	UTSW	10	82,214,778 (GRCm39)	missense	unknown
R7731:Gm4924	UTSW	10	82,213,361 (GRCm39)	missense	unknown
R8525:Gm4924	UTSW	10	82,213,701 (GRCm39)	intron	probably benign
R8555:Gm4924	UTSW	10	82,213,224 (GRCm39)	intron	probably benign
R9084:Gm4924	UTSW	10	82,213,953 (GRCm39)	missense	unknown
R9113:Gm4924	UTSW	10	82,214,113 (GRCm39)	missense	unknown
R9124:Gm4924	UTSW	10	82,214,875 (GRCm39)	missense	unknown
R9428:Gm4924	UTSW	10	82,213,490 (GRCm39)	missense	unknown
R9708:Gm4924	UTSW	10	82,214,992 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTTTGCACAGAATAGTCATCTTTTC -3'
(R):5'- TCTGTGCAAAGGCTTTACCAC -3'

Sequencing Primer
(F):5'- AGTCAATGTGGTAAAGCCTTTGC -3'
(R):5'- TGCAAAGGCTTTACCACATTGAC -3'

Posted On

2018-06-06