Mutagenetix > Incidental Mutation

Incidental Mutation 'R7822:Yju2b'

601938

Institutional Source

Beutler Lab

Gene Symbol

Yju2b

Ensembl Gene

ENSMUSG00000004994

Gene Name

YJU2 splicing factor homolog B

Synonyms

4930527D15Rik, Ccdc130

MMRRC Submission

045876-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R7822 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84984424-84997009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84988411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 72 (E72G)

Ref Sequence

ENSEMBL: ENSMUSP00000096177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005120] [ENSMUST00000098578] [ENSMUST00000126435] [ENSMUST00000163993] [ENSMUST00000172320]

AlphaFold

Q9D516

Predicted Effect

probably damaging
Transcript: ENSMUST00000005120
AA Change: E72G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: E72G

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 damaging
Transcript: ENSMUST00000098578
AA Change: E72G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: E72G

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

probably benign
Transcript: ENSMUST00000163993

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap21	G	A	2: 20,885,524 (GRCm39)	S551L	possibly damaging	Het
Ash1l	T	C	3: 88,914,571 (GRCm39)	S1734P	probably benign	Het
Btnl2	T	A	17: 34,582,288 (GRCm39)	S285T	possibly damaging	Het
Cadm4	A	G	7: 24,202,970 (GRCm39)	D364G	possibly damaging	Het
Card6	T	A	15: 5,128,347 (GRCm39)	K1016N	possibly damaging	Het
Cdh2	G	T	18: 16,757,341 (GRCm39)	N692K	probably benign	Het
Cep76	G	T	18: 67,774,219 (GRCm39)	S9*	probably null	Het
Cklf	T	C	8: 104,977,729 (GRCm39)		probably null	Het
Ctsa	T	C	2: 164,681,152 (GRCm39)	*475R	probably null	Het
Dapk1	A	C	13: 60,873,715 (GRCm39)	D406A	probably benign	Het
Ddx4	A	T	13: 112,748,647 (GRCm39)	V443D	probably damaging	Het
Dph5	C	T	3: 115,693,399 (GRCm39)	Q106*	probably null	Het
Drg2	C	T	11: 60,353,026 (GRCm39)	R220*	probably null	Het
Efcab8	A	T	2: 153,652,832 (GRCm39)	Q509L	unknown	Het
Efs	C	T	14: 55,154,907 (GRCm39)	S444N	probably benign	Het
Evl	T	C	12: 108,614,723 (GRCm39)	V58A	probably damaging	Het
Garin3	A	G	11: 46,295,730 (GRCm39)	N34S		Het
Gbe1	G	A	16: 70,230,500 (GRCm39)	R166H	probably damaging	Het
Gcc1	T	C	6: 28,418,785 (GRCm39)	E516G	probably damaging	Het
Ghr	T	C	15: 3,487,439 (GRCm39)	T15A	probably benign	Het
Gnb4	G	A	3: 32,650,480 (GRCm39)	T50M	probably damaging	Het
Grik3	T	C	4: 125,550,190 (GRCm39)		probably null	Het
Gstk1	T	C	6: 42,224,686 (GRCm39)	Y135H	probably benign	Het
Gucy2c	T	A	6: 136,685,404 (GRCm39)	I846F	probably damaging	Het
Itga7	A	G	10: 128,778,835 (GRCm39)	T321A	probably benign	Het
Jakmip1	A	T	5: 37,332,524 (GRCm39)	N1068I	probably damaging	Het
Krt36	A	G	11: 99,994,966 (GRCm39)	I202T	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mast2	A	G	4: 116,170,070 (GRCm39)	L741P	probably damaging	Het
Mctp2	T	C	7: 71,776,935 (GRCm39)	N720S	possibly damaging	Het
Mmp9	A	T	2: 164,790,956 (GRCm39)	K115*	probably null	Het
Mtf2	C	T	5: 108,228,743 (GRCm39)	R20*	probably null	Het
Mycbp2	T	G	14: 103,376,851 (GRCm39)	Q3810P	probably benign	Het
Myom2	A	T	8: 15,158,454 (GRCm39)	H802L	probably benign	Het
Naa25	A	G	5: 121,545,276 (GRCm39)	N27D	probably damaging	Het
Necab2	T	C	8: 120,181,103 (GRCm39)	F126L	probably damaging	Het
Nisch	C	G	14: 30,896,608 (GRCm39)		probably benign	Het
Nsd2	T	A	5: 34,000,938 (GRCm39)	S152T	probably damaging	Het
Ntsr1	T	C	2: 180,180,483 (GRCm39)	L263P	probably damaging	Het
Nup210	A	G	6: 90,995,759 (GRCm39)	V922A	possibly damaging	Het
Or12d17	T	A	17: 37,777,994 (GRCm39)	M299K	probably benign	Het
Or5b105	T	A	19: 13,080,417 (GRCm39)	I84F	probably benign	Het
Or5d45	A	C	2: 88,153,425 (GRCm39)	I208S	probably benign	Het
Pccb	C	A	9: 100,909,137 (GRCm39)	C144F	probably damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,341,589 (GRCm39)		probably null	Het
Prdm1	A	G	10: 44,334,478 (GRCm39)	V16A	probably benign	Het
Prr5	A	C	15: 84,649,933 (GRCm39)	Y219S	probably damaging	Het
Psme4	A	G	11: 30,824,245 (GRCm39)	D1743G	probably benign	Het
Rad21l	G	T	2: 151,497,045 (GRCm39)	D356E	probably benign	Het
Rars1	A	G	11: 35,710,793 (GRCm39)	I322T	probably damaging	Het
Retreg2	C	A	1: 75,123,185 (GRCm39)	P319Q	possibly damaging	Het
Robo2	T	C	16: 73,770,059 (GRCm39)	Y559C	probably damaging	Het
Ror1	T	C	4: 100,298,564 (GRCm39)	Y646H	probably damaging	Het
Rrp15	A	G	1: 186,481,373 (GRCm39)	S45P	probably benign	Het
Sacs	G	C	14: 61,429,652 (GRCm39)	K570N	probably benign	Het
Serpinb8	C	T	1: 107,534,723 (GRCm39)	Q265*	probably null	Het
Sgo2b	T	C	8: 64,380,318 (GRCm39)	E838G	probably damaging	Het
Slc2a12	G	A	10: 22,540,568 (GRCm39)	R141K	probably damaging	Het
Strc	G	T	2: 121,208,219 (GRCm39)	T384N	probably benign	Het
Tcaf2	T	C	6: 42,606,033 (GRCm39)	S547G	possibly damaging	Het
Tekt5	T	C	16: 10,200,792 (GRCm39)	N243S	possibly damaging	Het
Tgm3	A	G	2: 129,883,819 (GRCm39)	I492M	probably benign	Het
Tgm7	G	A	2: 120,934,421 (GRCm39)	T157I	probably benign	Het
Trnp1	C	A	4: 133,225,350 (GRCm39)	R140L	possibly damaging	Het
Ttn	A	G	2: 76,609,777 (GRCm39)	V15797A	probably damaging	Het
Ugp2	A	T	11: 21,283,762 (GRCm39)	S102T	probably benign	Het
Vav2	A	T	2: 27,172,299 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,686,241 (GRCm39)	I59F	probably damaging	Het
Zfp109	T	C	7: 23,928,570 (GRCm39)	T288A	probably benign	Het
Zscan12	T	A	13: 21,553,374 (GRCm39)	H399Q	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
R5001:Yju2b	UTSW	8	84,985,304 (GRCm39)	missense	probably benign	0.10
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
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'- CGGATAGTTCTACAGACGACGG -3'
(R):5'- CCCTCATCTCTGTTGACGAAAT -3'

Sequencing Primer
(F):5'- TAGTTCTACAGACGACGGCTCTAG -3'
(R):5'- TATAGCCTAGGTACCCCAGTG -3'

Posted On

2019-12-03