Mutagenetix > Incidental Mutation

Incidental Mutation 'R9113:Gm4924'

692370

Institutional Source

Beutler Lab

Gene Symbol

Gm4924

Ensembl Gene

ENSMUSG00000073427

Gene Name

predicted gene 4924

Synonyms

mIF1

MMRRC Submission

068920-MU

Accession Numbers

Essential gene?

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

Stock #

R9113 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82190087-82215477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82214113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 637 (C637Y)

Ref Sequence

ENSEMBL: ENSMUSP00000147402 (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: C637Y

Predicted Effect

probably benign
Transcript: ENSMUST00000211078

Predicted Effect

probably benign
Transcript: ENSMUST00000211099

Meta Mutation Damage Score

0.3994

Coding Region Coverage

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

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	A	6: 142,591,656 (GRCm39)	I791F	probably damaging	Het
Adamts15	A	G	9: 30,822,498 (GRCm39)	M389T	probably damaging	Het
Adgrb2	G	A	4: 129,910,877 (GRCm39)	V1065M	probably damaging	Het
Agbl1	C	A	7: 76,239,225 (GRCm39)	A827E	unknown	Het
Alox5ap	T	C	5: 149,216,015 (GRCm39)	F67S	probably damaging	Het
Ankrd11	T	C	8: 123,614,072 (GRCm39)	N2566S	possibly damaging	Het
Arhgap10	T	C	8: 77,985,701 (GRCm39)	D722G	probably damaging	Het
Atp5mf	A	G	5: 145,128,315 (GRCm39)	L4P	probably benign	Het
Bean1	T	C	8: 104,940,557 (GRCm39)	V130A	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdhr2	A	G	13: 54,882,700 (GRCm39)	D1222G	probably benign	Het
Chrm4	T	A	2: 91,758,075 (GRCm39)	V161E	probably benign	Het
Ckap5	T	C	2: 91,426,144 (GRCm39)	S1335P	probably damaging	Het
Col11a1	T	A	3: 113,888,192 (GRCm39)	Y267*	probably null	Het
Col14a1	T	C	15: 55,201,825 (GRCm39)	Y38H	unknown	Het
Coro2a	C	T	4: 46,563,047 (GRCm39)	G36S		Het
Ctsc	A	T	7: 87,959,104 (GRCm39)	K461N	possibly damaging	Het
Dcaf1	A	G	9: 106,712,831 (GRCm39)		probably benign	Het
Dnah9	A	G	11: 65,880,713 (GRCm39)	I2628T	probably damaging	Het
Dnajb5	T	C	4: 42,953,233 (GRCm39)	I20T	probably damaging	Het
Dus2	C	T	8: 106,775,333 (GRCm39)	Q287*	probably null	Het
Fbxl17	A	G	17: 63,532,085 (GRCm39)	V586A	probably benign	Het
Glg1	A	T	8: 111,887,452 (GRCm39)		probably benign	Het
Gorasp1	A	G	9: 119,757,442 (GRCm39)	F310S	probably damaging	Het
Gsta5	A	T	9: 78,212,667 (GRCm39)	I213F	probably benign	Het
Igfn1	G	A	1: 135,883,328 (GRCm39)	T2726I	probably damaging	Het
Inppl1	G	T	7: 101,475,231 (GRCm39)	P940Q	probably benign	Het
Klk1b22	G	A	7: 43,765,692 (GRCm39)	V183M	possibly damaging	Het
Krt12	A	G	11: 99,309,378 (GRCm39)	M294T	probably damaging	Het
Krtap6-2	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	GAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCGTATCCACAGCCATAGCCAGAGCCATATCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAACCATAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCAGAGCCAGAGCCACAGCCATAGCCAGAGCCATAGCCACAGCCATAGCCA	16: 89,216,613 (GRCm39)		probably benign	Het
Lep	T	C	6: 29,071,093 (GRCm39)	L139P	probably damaging	Het
Ltn1	T	C	16: 87,224,532 (GRCm39)	D64G	probably damaging	Het
Lyzl1	C	T	18: 4,168,604 (GRCm39)	A28V	probably null	Het
Mcam	T	C	9: 44,051,693 (GRCm39)	V483A	probably benign	Het
Mia2	C	T	12: 59,217,053 (GRCm39)		probably benign	Het
Mzf1	T	A	7: 12,778,279 (GRCm39)	H454L	probably damaging	Het
Pde10a	A	G	17: 9,197,782 (GRCm39)	T742A	probably benign	Het
Rapgef4	A	G	2: 71,861,493 (GRCm39)	Y61C	probably benign	Het
Ryr2	A	T	13: 11,618,741 (GRCm39)		probably benign	Het
Setbp1	G	T	18: 78,900,948 (GRCm39)	H906Q	probably damaging	Het
Slc12a4	A	G	8: 106,670,984 (GRCm39)	V1032A	probably benign	Het
Slc6a15	T	C	10: 103,236,140 (GRCm39)	M285T	probably damaging	Het
Spata31h1	G	A	10: 82,131,352 (GRCm39)	Q553*	probably null	Het
Steap2	A	G	5: 5,727,475 (GRCm39)	Y287H	probably damaging	Het
Tas2r135	T	G	6: 42,383,315 (GRCm39)	F285V	probably benign	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,618,538 (GRCm39)	T16249A	probably benign	Het
Usp8	A	G	2: 126,579,343 (GRCm39)	T299A	probably benign	Het
Vmn2r101	A	G	17: 19,811,288 (GRCm39)	I457M	possibly damaging	Het
Vps41	A	G	13: 19,023,883 (GRCm39)	E437G	probably benign	Het
Zfp638	A	T	6: 83,953,894 (GRCm39)	E1333V	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
R6539:Gm4924	UTSW	10	82,214,358 (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
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'- AGCATGAAAGAAGTCATACTGGG -3'
(R):5'- TTCTTTCGTGCTTATGAAGATGACTG -3'

Sequencing Primer
(F):5'- CCTTATGGGCGTAAACAATGTG -3'
(R):5'- CTGTTTTGTGAAAAGGCTTTACCAC -3'

Posted On

2021-12-30