Mutagenetix > Incidental Mutation

Incidental Mutation 'R5001:Yju2b'

389917

Institutional Source

Beutler Lab

Gene Symbol

Yju2b

Ensembl Gene

ENSMUSG00000004994

Gene Name

YJU2 splicing factor homolog B

Synonyms

4930527D15Rik, Ccdc130

MMRRC Submission

042595-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R5001 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84984424-84997009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84985304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 322 (P322S)

Ref Sequence

ENSEMBL: ENSMUSP00000096177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000172320]

AlphaFold

Q9D516

Predicted Effect

probably benign
Transcript: ENSMUST00000005120

SMART Domains

Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	198	1.7e-85	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000005122

SMART Domains

Protein: ENSMUSP00000005122
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	40	152	9.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098578
AA Change: P322S

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: P322S

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	384	1.4e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125498

SMART Domains

Protein: ENSMUSP00000117115
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	2	226	5.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126435

SMART Domains

Protein: ENSMUSP00000122623
Gene: ENSMUSG00000004996

Domain	Start	End	E-Value	Type
Pfam:IF-2B	44	346	4.8e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127747

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164476

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166285

Predicted Effect

probably benign
Transcript: ENSMUST00000172320

SMART Domains

Protein: ENSMUSP00000128605
Gene: ENSMUSG00000004994

Domain	Start	End	E-Value	Type
Pfam:DUF572	1	68	1.4e-31	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy3	G	A	12: 4,248,434 (GRCm39)	V499M	possibly damaging	Het
Aff4	T	C	11: 53,295,184 (GRCm39)	S795P	probably damaging	Het
Ank	G	A	15: 27,562,819 (GRCm39)	V176I	probably damaging	Het
Ankfn1	A	G	11: 89,332,268 (GRCm39)	I446T	possibly damaging	Het
Arhgap33	C	A	7: 30,232,441 (GRCm39)	S32I	possibly damaging	Het
Ascc3	T	A	10: 50,699,744 (GRCm39)	Y1856N	probably damaging	Het
Atf3	T	C	1: 190,909,472 (GRCm39)	T66A	probably benign	Het
Atf7ip	T	C	6: 136,538,386 (GRCm39)	C548R	probably damaging	Het
Bag6	A	G	17: 35,364,152 (GRCm39)	T841A	probably damaging	Het
Bbof1	A	T	12: 84,473,630 (GRCm39)	Q320L	possibly damaging	Het
Bmp2k	A	T	5: 97,201,001 (GRCm39)	Q307L	probably damaging	Het
Btaf1	T	A	19: 36,964,052 (GRCm39)	N874K	possibly damaging	Het
Calr4	G	A	4: 109,096,179 (GRCm39)		probably null	Het
Camk1d	T	C	2: 5,317,912 (GRCm39)	I248V	possibly damaging	Het
Ccdc177	G	A	12: 80,804,160 (GRCm39)	R705C	unknown	Het
Cdk18	C	T	1: 132,046,587 (GRCm39)		probably null	Het
Cers4	A	G	8: 4,565,565 (GRCm39)	S4G	probably benign	Het
Cfap54	A	G	10: 92,800,396 (GRCm39)	V1604A	probably benign	Het
Chd8	C	T	14: 52,441,372 (GRCm39)	G907S	probably benign	Het
Cilk1	T	C	9: 78,038,801 (GRCm39)	S17P	probably damaging	Het
Cnksr3	G	A	10: 7,076,746 (GRCm39)	Q149*	probably null	Het
Cntd1	T	C	11: 101,176,557 (GRCm39)	V218A	possibly damaging	Het
Cog7	A	T	7: 121,549,109 (GRCm39)	V384E	probably damaging	Het
Col5a2	A	G	1: 45,542,058 (GRCm39)	V6A	unknown	Het
Col7a1	T	C	9: 108,794,146 (GRCm39)		probably null	Het
Cpsf6	T	A	10: 117,203,866 (GRCm39)	I29L	possibly damaging	Het
Cyp3a13	T	C	5: 137,897,178 (GRCm39)	T379A	probably benign	Het
Ddx46	T	C	13: 55,800,732 (GRCm39)	S296P	probably damaging	Het
Dmbt1	A	G	7: 130,651,742 (GRCm39)	D328G	probably damaging	Het
Dnah8	T	G	17: 31,006,159 (GRCm39)	L3692W	probably damaging	Het
Dnmt3l	A	C	10: 77,895,565 (GRCm39)	S368R	probably null	Het
Egfr	A	G	11: 16,854,434 (GRCm39)	K869E	probably damaging	Het
Ehd1	G	A	19: 6,347,724 (GRCm39)	M359I	probably benign	Het
F5	A	T	1: 164,023,139 (GRCm39)	T1566S	probably benign	Het
Flrt2	T	C	12: 95,745,725 (GRCm39)	I21T	probably benign	Het
Galnt1	T	A	18: 24,404,812 (GRCm39)	I383K	probably benign	Het
Ghdc	G	T	11: 100,657,660 (GRCm39)	A523D	probably damaging	Het
Gm24022	A	G	12: 113,393,399 (GRCm39)		probably benign	Het
Golga3	T	C	5: 110,353,643 (GRCm39)	S934P	probably damaging	Het
Gpr135	T	A	12: 72,117,282 (GRCm39)	T162S	probably benign	Het
Gucd1	G	A	10: 75,353,036 (GRCm39)		probably null	Het
Hcrtr2	T	A	9: 76,137,886 (GRCm39)	I410F	probably benign	Het
Igkv6-15	T	C	6: 70,383,633 (GRCm39)	Y56C	probably damaging	Het
Il22ra1	A	T	4: 135,460,415 (GRCm39)	Y57F	probably damaging	Het
Irak4	A	G	15: 94,456,154 (GRCm39)	E247G	possibly damaging	Het
Kank3	T	C	17: 34,040,746 (GRCm39)	V13A	possibly damaging	Het
Klhl1	A	T	14: 96,374,046 (GRCm39)	S667T	probably damaging	Het
Klhl6	T	G	16: 19,765,741 (GRCm39)	*620C	probably null	Het
Lct	A	G	1: 128,235,978 (GRCm39)	L343P	probably damaging	Het
Lgr6	G	T	1: 134,918,370 (GRCm39)	P264T	probably benign	Het
Lilrb4a	T	A	10: 51,367,516 (GRCm39)		probably null	Het
Lin7a	G	T	10: 107,218,530 (GRCm39)	G25*	probably null	Het
Lmnb2	G	A	10: 80,753,946 (GRCm39)	T36M	probably damaging	Het
Manba	T	C	3: 135,273,391 (GRCm39)	F775S	probably benign	Het
Marchf6	A	G	15: 31,465,468 (GRCm39)	V812A	probably damaging	Het
Megf6	T	A	4: 154,352,517 (GRCm39)	L1292H	probably damaging	Het
Myo18b	T	G	5: 112,909,206 (GRCm39)	Q1979P	probably damaging	Het
Myoz1	T	C	14: 20,703,769 (GRCm39)	M59V	probably damaging	Het
Naa35	T	C	13: 59,773,345 (GRCm39)	I100T	possibly damaging	Het
Nox4	A	T	7: 87,010,011 (GRCm39)	Y404F	probably damaging	Het
Ntn1	T	C	11: 68,151,358 (GRCm39)	Y441C	probably damaging	Het
Onecut3	A	G	10: 80,331,154 (GRCm39)	T105A	unknown	Het
Or10ak8	C	A	4: 118,774,440 (GRCm39)	V75F	probably damaging	Het
Or1n1	T	C	2: 36,750,082 (GRCm39)	T93A	probably benign	Het
Or4d5	G	A	9: 40,012,523 (GRCm39)	H88Y	probably benign	Het
Pabpc1l	A	G	2: 163,884,438 (GRCm39)	S392G	probably benign	Het
Pan3	T	A	5: 147,463,492 (GRCm39)		probably null	Het
Pcdha4	G	A	18: 37,088,001 (GRCm39)	S728N	probably benign	Het
Pds5a	T	C	5: 65,854,128 (GRCm39)	D38G	probably damaging	Het
Pgm2l1	A	G	7: 99,921,583 (GRCm39)	I605V	probably benign	Het
Phip	T	C	9: 82,778,072 (GRCm39)		probably null	Het
Pilra	T	C	5: 137,833,777 (GRCm39)	I96M	probably damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Ppp2r2a	A	T	14: 67,259,757 (GRCm39)	L313*	probably null	Het
Ppp4c	A	G	7: 126,386,709 (GRCm39)	F126S	probably damaging	Het
Ptger2	C	A	14: 45,226,824 (GRCm39)	R135S	probably damaging	Het
Rab11fip5	T	A	6: 85,324,788 (GRCm39)	E506D	probably damaging	Het
Rdh12	G	A	12: 79,259,516 (GRCm39)	G133R	probably damaging	Het
Rims2	A	T	15: 39,315,824 (GRCm39)	D610V	probably benign	Het
Saa1	T	A	7: 46,390,132 (GRCm39)	Y122F	probably damaging	Het
Septin10	A	T	10: 59,012,811 (GRCm39)	V269E	probably damaging	Het
Serpina3n	T	A	12: 104,374,998 (GRCm39)	D23E	probably benign	Het
Serpinb11	A	G	1: 107,304,598 (GRCm39)	K188E	possibly damaging	Het
Slc18a3	C	T	14: 32,185,736 (GRCm39)	V216M	possibly damaging	Het
Slc19a3	G	T	1: 83,000,341 (GRCm39)	N225K	probably benign	Het
Slc4a1	T	A	11: 102,242,329 (GRCm39)	I797F	probably benign	Het
Slx9	A	G	10: 77,325,850 (GRCm39)	V154A	probably benign	Het
Spic	A	G	10: 88,511,761 (GRCm39)	M165T	possibly damaging	Het
Timm44	A	T	8: 4,325,886 (GRCm39)	M1K	probably null	Het
Tmc6	A	G	11: 117,661,610 (GRCm39)	L572P	probably benign	Het
Tnc	G	A	4: 63,918,299 (GRCm39)	T1204M	probably benign	Het
Tnc	G	A	4: 63,902,726 (GRCm39)	T1517I	probably damaging	Het
Trip11	A	T	12: 101,851,169 (GRCm39)	L680*	probably null	Het
Trps1	T	A	15: 50,524,703 (GRCm39)	M887L	possibly damaging	Het
Tulp3	A	C	6: 128,302,031 (GRCm39)	V330G	probably damaging	Het
Upf1	A	G	8: 70,787,350 (GRCm39)	S835P	probably damaging	Het
Wdr64	A	G	1: 175,620,525 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,723,461 (GRCm39)	L643P	probably damaging	Het
Zc3h18	A	T	8: 123,110,259 (GRCm39)	D36V	probably damaging	Het

Other mutations in Yju2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01862:Yju2b	APN	8	84,987,163 (GRCm39)	splice site	probably benign
IGL02536:Yju2b	APN	8	84,987,245 (GRCm39)	nonsense	probably null
IGL02810:Yju2b	APN	8	84,990,997 (GRCm39)	splice site	probably benign
R0350:Yju2b	UTSW	8	84,987,277 (GRCm39)	missense	probably damaging	1.00
R0567:Yju2b	UTSW	8	84,987,294 (GRCm39)	missense	probably damaging	1.00
R1807:Yju2b	UTSW	8	84,986,936 (GRCm39)	missense	probably damaging	1.00
R2209:Yju2b	UTSW	8	84,990,498 (GRCm39)	missense	probably benign	0.00
R3933:Yju2b	UTSW	8	84,986,981 (GRCm39)	missense	probably benign	0.08
R3949:Yju2b	UTSW	8	84,985,453 (GRCm39)	missense	probably benign	0.03
R4633:Yju2b	UTSW	8	84,987,024 (GRCm39)	missense	probably benign	0.06
R4715:Yju2b	UTSW	8	84,990,503 (GRCm39)	missense	probably damaging	1.00
R4722:Yju2b	UTSW	8	84,985,439 (GRCm39)	missense	probably benign	0.00
R5631:Yju2b	UTSW	8	84,990,510 (GRCm39)	missense	probably damaging	0.99
R5874:Yju2b	UTSW	8	84,985,177 (GRCm39)	missense	possibly damaging	0.92
R6434:Yju2b	UTSW	8	84,989,630 (GRCm39)	missense	probably damaging	1.00
R6467:Yju2b	UTSW	8	84,985,318 (GRCm39)	missense	probably benign
R7259:Yju2b	UTSW	8	84,986,946 (GRCm39)	missense	probably damaging	1.00
R7822:Yju2b	UTSW	8	84,988,411 (GRCm39)	missense	probably damaging	1.00
R8549:Yju2b	UTSW	8	84,985,399 (GRCm39)	missense	probably benign	0.05
R8766:Yju2b	UTSW	8	84,988,423 (GRCm39)	missense	probably damaging	1.00
R8827:Yju2b	UTSW	8	84,986,987 (GRCm39)	missense	possibly damaging	0.82
R9047:Yju2b	UTSW	8	84,990,527 (GRCm39)	missense	probably damaging	1.00
R9527:Yju2b	UTSW	8	84,989,652 (GRCm39)	missense	probably damaging	0.99
R9595:Yju2b	UTSW	8	84,988,400 (GRCm39)	missense	probably damaging	0.98
R9657:Yju2b	UTSW	8	84,987,084 (GRCm39)	missense	possibly damaging	0.91
Z1088:Yju2b	UTSW	8	84,985,538 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTCAGAGTAGTCAGCCACCAG -3'
(R):5'- GAGATCATCCACCGCTCTTG -3'

Sequencing Primer
(F):5'- TAGTCAGCCACCAGGGAGG -3'
(R):5'- AGGGACCCAGTGCTAGCAG -3'

Posted On

2016-06-06