Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Yeats4'

189904

Institutional Source

Beutler Lab

Gene Symbol

Yeats4

Ensembl Gene

ENSMUSG00000020171

Gene Name

YEATS domain containing 4

Synonyms

GAS41, B230215M10Rik, 4930573H17Rik, NuBI-1

MMRRC Submission

039736-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

117051126-117060412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 117051628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 210 (C210S)

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: C210S

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

SMART Domains

Protein: ENSMUSP00000020382
Gene: ENSMUSG00000020171
AA Change: C210S

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

0.0578

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,945,431 (GRCm39)	Y401*	probably null	Het
4932415M13Rik	C	A	17: 54,032,065 (GRCm39)		noncoding transcript	Het
Abtb3	A	G	10: 85,223,248 (GRCm39)	D19G	unknown	Het
Acoxl	T	A	2: 127,820,692 (GRCm39)	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,584,924 (GRCm39)	C915R	probably damaging	Het
Adgra3	C	T	5: 50,164,117 (GRCm39)	M287I	probably benign	Het
Afg1l	T	G	10: 42,276,395 (GRCm39)	D250A	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Amfr	T	C	8: 94,700,871 (GRCm39)	T530A	probably benign	Het
Ank2	C	T	3: 126,723,415 (GRCm39)	V971M	probably damaging	Het
App	A	G	16: 84,762,656 (GRCm39)	S656P	probably damaging	Het
Arid5a	T	A	1: 36,358,656 (GRCm39)		probably null	Het
Asic5	T	A	3: 81,907,029 (GRCm39)	V60D	possibly damaging	Het
Atm	G	T	9: 53,412,000 (GRCm39)	H1019N	probably benign	Het
Cep250	A	G	2: 155,807,466 (GRCm39)	K277R	probably benign	Het
Chrna7	C	T	7: 62,749,255 (GRCm39)	R409H	probably damaging	Het
Chrng	A	T	1: 87,138,628 (GRCm39)	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,087,739 (GRCm39)	S199G	probably benign	Het
Clstn2	A	T	9: 97,340,290 (GRCm39)	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,391,181 (GRCm39)		probably benign	Het
Cyp2c69	T	A	19: 39,864,810 (GRCm39)	I223F	probably benign	Het
Dennd1b	A	T	1: 139,097,492 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,917,575 (GRCm39)	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,213,463 (GRCm39)	M506V	probably benign	Het
Ecsit	A	G	9: 21,986,107 (GRCm39)	V173A	probably damaging	Het
Fam13b	T	C	18: 34,584,492 (GRCm39)		probably null	Het
Fgl2	T	A	5: 21,577,730 (GRCm39)	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,767,038 (GRCm39)	R503H	probably damaging	Het
Gramd1a	C	T	7: 30,838,959 (GRCm39)	V247M	possibly damaging	Het
Grip2	A	T	6: 91,754,379 (GRCm39)	I632N	probably damaging	Het
Hspg2	T	C	4: 137,286,462 (GRCm39)	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,691,390 (GRCm39)	Y660C	probably benign	Het
Isg15	T	C	4: 156,284,265 (GRCm39)	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,730,870 (GRCm39)	D388E	probably benign	Het
Jhy	T	C	9: 40,856,133 (GRCm39)	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,025,696 (GRCm39)	T931M	probably damaging	Het
Kif21a	A	G	15: 90,833,250 (GRCm39)		probably null	Het
Lama2	A	T	10: 27,142,667 (GRCm39)	Y604N	probably damaging	Het
Lrp3	T	G	7: 34,912,586 (GRCm39)	S34R	possibly damaging	Het
Lrrc37	C	T	11: 103,431,700 (GRCm39)	V1372I	probably benign	Het
Lyn	T	C	4: 3,738,867 (GRCm39)		probably null	Het
Mroh8	C	T	2: 157,113,896 (GRCm39)	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,098,093 (GRCm39)	F977L	probably damaging	Het
Nol8	C	T	13: 49,820,933 (GRCm39)	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,515,845 (GRCm39)	N169K	probably damaging	Het
Oplah	A	G	15: 76,180,867 (GRCm39)	Y1279H	probably benign	Het
Or10ag56	T	C	2: 87,139,754 (GRCm39)	V207A	probably benign	Het
Or4c101	T	A	2: 88,390,599 (GRCm39)	M262K	possibly damaging	Het
Pcsk5	T	C	19: 17,729,458 (GRCm39)	N129S	probably benign	Het
Pcyt2	G	T	11: 120,503,894 (GRCm39)	P185T	probably benign	Het
Pdlim2	A	G	14: 70,411,784 (GRCm39)		probably null	Het
Pgs1	T	C	11: 117,905,554 (GRCm39)		probably benign	Het
Qprt	A	G	7: 126,707,343 (GRCm39)	V251A	probably benign	Het
Rasal2	A	C	1: 156,985,170 (GRCm39)	L834R	probably damaging	Het
Reg1	T	C	6: 78,405,432 (GRCm39)	C161R	probably damaging	Het
Rp1	T	A	1: 4,415,392 (GRCm39)	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,155,346 (GRCm39)	D360G	possibly damaging	Het
Sart3	C	A	5: 113,890,280 (GRCm39)	V482F	probably benign	Het
Scarf2	A	G	16: 17,620,713 (GRCm39)	E127G	probably damaging	Het
Serinc5	T	C	13: 92,825,305 (GRCm39)	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,821,087 (GRCm39)	R57L	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sgca	A	T	11: 94,860,217 (GRCm39)	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,154,000 (GRCm39)	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 82,920,869 (GRCm39)		noncoding transcript	Het
Spam1	A	T	6: 24,796,256 (GRCm39)	D69V	probably damaging	Het
Tanc1	A	G	2: 59,673,365 (GRCm39)	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,123,416 (GRCm39)	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tlx1	A	G	19: 45,144,443 (GRCm39)	D55G	possibly damaging	Het
Tram2	G	T	1: 21,074,458 (GRCm39)	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,744 (GRCm39)	Y325C	probably damaging	Het
Ubac2	T	A	14: 122,142,582 (GRCm39)	S27T	probably benign	Het
Utrn	G	A	10: 12,603,473 (GRCm39)		probably benign	Het
Vnn3	A	T	10: 23,741,828 (GRCm39)	M378L	probably benign	Het
Vps18	T	A	2: 119,119,538 (GRCm39)	D6E	probably benign	Het
Xkr5	T	A	8: 18,989,134 (GRCm39)	I253F	probably benign	Het
Zdhhc20	A	G	14: 58,076,545 (GRCm39)		probably null	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
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
R5687:Yeats4	UTSW	10	117,051,585 (GRCm39)	missense	probably benign
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'- GCTTAACGTCGTGGAATGCTACCC -3'
(R):5'- GCCTTAGGAAGTGCTGTTTGTCCTC -3'

Sequencing Primer
(F):5'- TACCTGGAGTCCTCTCTGAGAAAG -3'
(R):5'- CCTCTGGTGTCATAAGAGGATG -3'

Posted On

2014-05-14