Mutagenetix > Incidental Mutation

Incidental Mutation 'R5687:Yeats4'

443437

Institutional Source

Beutler Lab

Gene Symbol

Yeats4

Ensembl Gene

ENSMUSG00000020171

Gene Name

YEATS domain containing 4

Synonyms

GAS41, B230215M10Rik, 4930573H17Rik, NuBI-1

MMRRC Submission

043320-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5687 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117051126-117060412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 117051585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 224 (T224M)

Ref Sequence

ENSEMBL: ENSMUSP00000020382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020382] [ENSMUST00000218887]

AlphaFold

Q9CR11

Predicted Effect

probably benign
Transcript: ENSMUST00000020382
AA Change: T224M

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020382
Gene: ENSMUSG00000020171
AA Change: T224M

Domain	Start	End	E-Value	Type
Pfam:YEATS	44	124	4.6e-38	PFAM
low complexity region	152	163	N/A	INTRINSIC
coiled coil region	178	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218887

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219609

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the nucleoli. It has high sequence homology to human MLLT1, and yeast and human MLLT3 proteins. Both MLLT1 and MLLT3 proteins belong to a class of transcription factors, indicating that the encoded protein might also represent a transcription factor. This protein is thought to be required for RNA transcription. This gene has been shown to be amplified in tumors. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,223,852 (GRCm39)	D1292V	probably benign	Het
Adcy2	A	T	13: 68,768,938 (GRCm39)	C1063*	probably null	Het
Adcy2	A	T	13: 68,790,688 (GRCm39)	V892D	probably damaging	Het
Agtpbp1	T	C	13: 59,648,329 (GRCm39)	D497G	probably benign	Het
Anks1b	A	C	10: 90,750,573 (GRCm39)	I195L	probably benign	Het
Asmt	G	T	X: 169,111,749 (GRCm39)	S377I	unknown	Het
C1s1	T	A	6: 124,517,909 (GRCm39)	T24S	probably benign	Het
Ccdc85a	A	T	11: 28,342,854 (GRCm39)		probably benign	Het
Ccndbp1	T	C	2: 120,845,183 (GRCm39)		probably benign	Het
Cct8	T	C	16: 87,285,709 (GRCm39)	I250V	probably benign	Het
Cmya5	T	C	13: 93,234,684 (GRCm39)	T135A	possibly damaging	Het
Col11a1	T	C	3: 114,010,752 (GRCm39)		probably benign	Het
Crybg3	A	G	16: 59,379,529 (GRCm39)	M575T	probably benign	Het
Dmp1	C	T	5: 104,354,952 (GRCm39)		probably benign	Het
Emc1	G	T	4: 139,102,691 (GRCm39)	R950L	probably damaging	Het
Enpep	T	C	3: 129,092,743 (GRCm39)		probably null	Het
Eya1	G	A	1: 14,253,476 (GRCm39)	T500I	probably damaging	Het
Fam169a	T	C	13: 97,230,126 (GRCm39)	F54L	probably damaging	Het
Fbxo8	A	G	8: 57,044,552 (GRCm39)	K285R	probably damaging	Het
Galnt1	A	T	18: 24,405,807 (GRCm39)	E416D	probably benign	Het
Gcc1	T	A	6: 28,419,232 (GRCm39)		probably null	Het
Gm10800	T	A	2: 98,496,965 (GRCm39)	Y196F	probably benign	Het
Gmpr	T	A	13: 45,692,496 (GRCm39)		probably null	Het
Jrkl	C	T	9: 13,244,387 (GRCm39)	E425K	probably benign	Het
Kl	T	G	5: 150,911,931 (GRCm39)	I560S	possibly damaging	Het
Kyat3	C	A	3: 142,440,343 (GRCm39)	R356S	probably null	Het
Lrig2	C	T	3: 104,371,388 (GRCm39)		probably null	Het
Lrrc47	A	G	4: 154,100,140 (GRCm39)	T239A	probably benign	Het
Map4k2	T	C	19: 6,395,672 (GRCm39)		probably benign	Het
Mon2	A	G	10: 122,844,144 (GRCm39)	S1469P	probably damaging	Het
Mthfd1l	G	A	10: 3,940,002 (GRCm39)		probably null	Het
Mvk	G	T	5: 114,588,826 (GRCm39)	G144V	probably damaging	Het
Nasp	T	A	4: 116,463,002 (GRCm39)		probably benign	Het
Ndst4	A	C	3: 125,232,258 (GRCm39)	N276H	possibly damaging	Het
Nsmf	C	T	2: 24,946,079 (GRCm39)	P189S	probably damaging	Het
Nt5m	T	G	11: 59,743,649 (GRCm39)	D92E	probably benign	Het
Or10g6	T	G	9: 39,933,731 (GRCm39)	L14R	probably damaging	Het
Or4k39	T	C	2: 111,239,033 (GRCm39)		noncoding transcript	Het
Or4p23	A	T	2: 88,577,094 (GRCm39)	I46N	probably damaging	Het
Pan3	T	A	5: 147,391,982 (GRCm39)	I119N	probably damaging	Het
Pard6b	A	T	2: 167,940,546 (GRCm39)	S178C	probably damaging	Het
Parl	A	G	16: 20,106,728 (GRCm39)		probably benign	Het
Pdk2	A	G	11: 94,919,851 (GRCm39)		probably benign	Het
Prag1	A	G	8: 36,613,967 (GRCm39)	E1173G	probably benign	Het
Prph2	T	A	17: 47,234,391 (GRCm39)	L320Q	probably damaging	Het
Psmd3	T	C	11: 98,584,495 (GRCm39)	I200T	probably damaging	Het
Rhbdd3	T	A	11: 5,055,707 (GRCm39)	S324T	probably damaging	Het
Rps6-ps2	A	T	8: 89,533,112 (GRCm39)		noncoding transcript	Het
Rps8	G	C	4: 117,012,352 (GRCm39)		probably benign	Het
Samd4	A	G	14: 47,254,022 (GRCm39)	N61S	probably benign	Het
Sfrp2	G	A	3: 83,674,146 (GRCm39)	A100T	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc6a13	A	G	6: 121,279,700 (GRCm39)	T25A	probably benign	Het
Sntg1	C	A	1: 8,533,667 (GRCm39)	R329L	possibly damaging	Het
Sorbs2	T	C	8: 46,228,669 (GRCm39)	F285L	probably damaging	Het
Speg	T	C	1: 75,395,773 (GRCm39)		probably null	Het
Srgap1	T	C	10: 121,661,541 (GRCm39)	Y533C	probably damaging	Het
Supt5	C	A	7: 28,017,188 (GRCm39)	S668I	probably benign	Het
Taf6l	T	G	19: 8,750,676 (GRCm39)	I133L	probably benign	Het
Thrap3	G	A	4: 126,074,279 (GRCm39)		probably benign	Het
Tmem115	A	G	9: 107,412,054 (GRCm39)	N126S	probably benign	Het
Trgc1	A	T	13: 19,400,729 (GRCm39)	I153F	unknown	Het
Tspoap1	T	A	11: 87,667,952 (GRCm39)	I1192N	probably damaging	Het
Vcan	T	C	13: 89,826,253 (GRCm39)	I3184V	probably damaging	Het
Zc3h13	A	T	14: 75,569,400 (GRCm39)	R1416*	probably null	Het
Zmynd12	T	A	4: 119,299,098 (GRCm39)	Y193N	probably damaging	Het

Other mutations in Yeats4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Yeats4	APN	10	117,051,716 (GRCm39)	missense	probably benign	0.01
R0305:Yeats4	UTSW	10	117,051,741 (GRCm39)	missense	probably damaging	0.99
R1606:Yeats4	UTSW	10	117,053,344 (GRCm39)	missense	probably damaging	1.00
R1703:Yeats4	UTSW	10	117,051,628 (GRCm39)	missense	probably benign
R1907:Yeats4	UTSW	10	117,051,636 (GRCm39)	missense	probably benign	0.17
R3156:Yeats4	UTSW	10	117,058,186 (GRCm39)	missense	probably benign	0.11
R3625:Yeats4	UTSW	10	117,056,273 (GRCm39)	missense	probably benign	0.08
R7900:Yeats4	UTSW	10	117,056,464 (GRCm39)	missense	possibly damaging	0.95
R8347:Yeats4	UTSW	10	117,053,374 (GRCm39)	missense	probably benign	0.26
R8514:Yeats4	UTSW	10	117,051,660 (GRCm39)	missense	possibly damaging	0.50
R9665:Yeats4	UTSW	10	117,053,343 (GRCm39)	nonsense	probably null
R9688:Yeats4	UTSW	10	117,051,586 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCAGCATCGAGTCTTAGAG -3'
(R):5'- TAAGAGGATGGGCTCACTCAG -3'

Sequencing Primer
(F):5'- TCGAGTCTTAGAGCACACATG -3'
(R):5'- GCTCACTCAGCTCAGCTC -3'

Posted On

2016-11-09