Mutagenetix > Incidental Mutation

Incidental Mutation 'R8766:Yju2b'

686544

Institutional Source

Beutler Lab

Gene Symbol

Yju2b

Ensembl Gene

ENSMUSG00000004994

Gene Name

YJU2 splicing factor homolog B

Synonyms

4930527D15Rik, Ccdc130

MMRRC Submission

068600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

R8766 (G1)

Quality Score

47.0072

Status

Validated

Chromosome

Chromosomal Location

84984424-84997009 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 84988423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 68 (R68H)

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: R68H

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

SMART Domains

Protein: ENSMUSP00000005120
Gene: ENSMUSG00000004994
AA Change: R68H

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: R68H

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

SMART Domains

Protein: ENSMUSP00000096177
Gene: ENSMUSG00000004994
AA Change: R68H

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: 99.2%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	T	G	12: 71,001,430 (GRCm39)		probably null	Het
Amz1	A	G	5: 140,733,921 (GRCm39)	N166D	probably benign	Het
Armh4	T	A	14: 50,011,497 (GRCm39)	N70I	probably damaging	Het
Asah2	A	G	19: 32,035,280 (GRCm39)	F15S	possibly damaging	Het
Axin2	A	G	11: 108,814,657 (GRCm39)	M182V	probably damaging	Het
Cacna1s	T	C	1: 136,002,881 (GRCm39)	L326P	probably damaging	Het
Ccdc169	T	C	3: 55,058,245 (GRCm39)		probably null	Het
Cct8	A	T	16: 87,285,756 (GRCm39)	V234D	probably damaging	Het
Cdh19	T	C	1: 110,817,844 (GRCm39)	R633G	probably benign	Het
Clca3a1	A	T	3: 144,714,939 (GRCm39)		probably benign	Het
Crat	G	A	2: 30,297,075 (GRCm39)	P293S	probably benign	Het
Crybg3	G	A	16: 59,375,696 (GRCm39)	R139C	probably benign	Het
Ctbs	A	G	3: 146,165,588 (GRCm39)	N301S	possibly damaging	Het
Cyp4x1	T	C	4: 114,967,262 (GRCm39)	H438R	probably damaging	Het
Dglucy	C	A	12: 100,837,706 (GRCm39)	H616Q	probably benign	Het
Dync1i1	T	A	6: 5,767,142 (GRCm39)	L74Q	possibly damaging	Het
Epn1	T	C	7: 5,095,860 (GRCm39)	S167P	possibly damaging	Het
Fbxw28	T	C	9: 109,155,749 (GRCm39)	E341G	probably benign	Het
Gk2	T	A	5: 97,604,110 (GRCm39)	M243L	probably benign	Het
Grhl3	T	A	4: 135,300,724 (GRCm39)	E4D	probably benign	Het
Hsd17b13	T	C	5: 104,125,009 (GRCm39)	K58R	probably benign	Het
Ighd5-7	G	A	12: 113,428,148 (GRCm39)	Q9*	probably null	Het
Izumo1	G	A	7: 45,276,496 (GRCm39)	S353N	probably benign	Het
Klhl31	T	C	9: 77,557,445 (GRCm39)	S54P	possibly damaging	Het
Lonp2	T	C	8: 87,363,198 (GRCm39)	M272T	probably benign	Het
Ltbp1	T	A	17: 75,603,250 (GRCm39)	C682*	probably null	Het
Magi2	A	G	5: 20,400,123 (GRCm39)	K52E	probably benign	Het
Nab2	C	T	10: 127,502,417 (GRCm39)		probably benign	Het
Ncapg2	T	A	12: 116,390,356 (GRCm39)	V435D	probably damaging	Het
Nid2	A	G	14: 19,802,340 (GRCm39)	D87G	probably benign	Het
Or10a3	A	G	7: 108,480,453 (GRCm39)	M120T	probably benign	Het
Or9a7	T	C	6: 40,521,485 (GRCm39)	M143V	probably benign	Het
Pamr1	T	C	2: 102,380,538 (GRCm39)	M1T	probably null	Het
Pard3b	T	C	1: 62,198,637 (GRCm39)	C242R	probably benign	Het
Pcif1	T	A	2: 164,727,346 (GRCm39)	V106E	probably benign	Het
Pitx2	T	A	3: 129,012,223 (GRCm39)	F218I	probably damaging	Het
Ppip5k1	G	T	2: 121,166,919 (GRCm39)	Y877*	probably null	Het
Prkch	A	G	12: 73,749,312 (GRCm39)	N354S	probably benign	Het
Psen2	T	A	1: 180,073,201 (GRCm39)	D40V	probably benign	Het
Rfx7	T	A	9: 72,524,021 (GRCm39)	S404T	possibly damaging	Het
Ryr2	T	A	13: 11,683,855 (GRCm39)	T3070S	probably damaging	Het
Slc24a4	A	G	12: 102,196,711 (GRCm39)	D263G	probably benign	Het
Tox	T	C	4: 6,823,047 (GRCm39)	E90G	probably damaging	Het
Unc13b	C	T	4: 43,174,722 (GRCm39)	S1850L	unknown	Het
Vmn1r5	T	A	6: 56,963,100 (GRCm39)	D258E	possibly damaging	Het
Vmn2r84	C	T	10: 130,222,241 (GRCm39)	V660M	probably damaging	Het
Zfp592	A	T	7: 80,674,353 (GRCm39)	H439L	probably benign	Het
Zfp775	A	T	6: 48,597,113 (GRCm39)	H329L	probably damaging	Het
Zswim5	T	C	4: 116,816,004 (GRCm39)	L364P	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
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
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'- TACAGACGACGGCTCTAGAGGA -3'
(R):5'- CCCTCATCTCTGTTGACGAAA -3'

Sequencing Primer
(F):5'- CTCTAGAGGAAGGTGCTGCG -3'
(R):5'- TCATCTCTGTTGACGAAATGGGAGAC -3'

Posted On

2021-10-20