Mutagenetix > Incidental Mutation

Incidental Mutation 'R6444:Ydjc'

519142

Institutional Source

Beutler Lab

Gene Symbol

Ydjc

Ensembl Gene

ENSMUSG00000041774

Gene Name

YdjC homolog (bacterial)

Synonyms

4930521M19Rik, 1810015A11Rik

MMRRC Submission

044582-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6444 (G1)

Quality Score

110.008

Status

Validated

Chromosome

Chromosomal Location

16964813-16966721 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16965545 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 136 (H136Q)

Ref Sequence

ENSEMBL: ENSMUSP00000156140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023452] [ENSMUST00000069064] [ENSMUST00000090192] [ENSMUST00000115702] [ENSMUST00000115706] [ENSMUST00000115711] [ENSMUST00000231493] [ENSMUST00000231726] [ENSMUST00000232344] [ENSMUST00000232479] [ENSMUST00000231708] [ENSMUST00000232139] [ENSMUST00000232033] [ENSMUST00000231597] [ENSMUST00000232540]

AlphaFold

Q14BV6

Predicted Effect

probably benign
Transcript: ENSMUST00000023452

SMART Domains

Protein: ENSMUSP00000023452
Gene: ENSMUSG00000022768

Domain	Start	End	E-Value	Type
low complexity region	116	127	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000069064
AA Change: H136Q

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

SMART Domains

Protein: ENSMUSP00000069864
Gene: ENSMUSG00000041774
AA Change: H136Q

Domain	Start	End	E-Value	Type
Pfam:YdjC	7	288	1.3e-68	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090192

SMART Domains

Protein: ENSMUSP00000087658
Gene: ENSMUSG00000038965

Domain	Start	End	E-Value	Type
UBCc	5	149	1.43e-64	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000115702
AA Change: H136Q

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

SMART Domains

Protein: ENSMUSP00000111366
Gene: ENSMUSG00000041774
AA Change: H136Q

Domain	Start	End	E-Value	Type
Pfam:YdjC	6	229	9.2e-59	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115706
AA Change: H136Q

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

SMART Domains

Protein: ENSMUSP00000111371
Gene: ENSMUSG00000041774
AA Change: H136Q

Domain	Start	End	E-Value	Type
Pfam:YdjC	6	229	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115711

SMART Domains

Protein: ENSMUSP00000111376
Gene: ENSMUSG00000022768

Domain	Start	End	E-Value	Type
Pfam:DUF4702	18	411	6.3e-223	PFAM
low complexity region	488	503	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231493

Predicted Effect

probably damaging
Transcript: ENSMUST00000231726
AA Change: H136Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232344
AA Change: H136Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000232479
AA Change: H136Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000231708

Predicted Effect

probably benign
Transcript: ENSMUST00000232139

Predicted Effect

probably benign
Transcript: ENSMUST00000232668

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231502

Predicted Effect

probably benign
Transcript: ENSMUST00000232033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231539

Predicted Effect

probably benign
Transcript: ENSMUST00000231597

Predicted Effect

probably benign
Transcript: ENSMUST00000232540

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231975

Meta Mutation Damage Score

0.6887

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	ACAGAGCAGTGCCTACCAG	ACAG	5: 138,637,831 (GRCm39)		probably benign	Het
Bcas2	T	A	3: 103,079,362 (GRCm39)		probably null	Het
Camk1d	A	T	2: 5,317,956 (GRCm39)	I233N	probably damaging	Het
Chd2	T	C	7: 73,150,785 (GRCm39)		probably null	Het
Cnot2	T	C	10: 116,335,260 (GRCm39)	D246G	probably benign	Het
Cped1	A	C	6: 21,986,930 (GRCm39)	I41L	probably benign	Het
Dcdc2c	A	G	12: 28,585,475 (GRCm39)	V174A	probably damaging	Het
Dscam	G	A	16: 96,420,844 (GRCm39)	R1681C	probably damaging	Het
Dysf	G	A	6: 84,167,822 (GRCm39)	V1755M	probably benign	Het
Eif5b	G	A	1: 38,075,292 (GRCm39)	D590N	probably damaging	Het
Fntb	A	G	12: 76,963,214 (GRCm39)	Y399C	probably damaging	Het
Galns	T	C	8: 123,338,077 (GRCm39)	M1V	probably null	Het
Galnt15	T	C	14: 31,762,368 (GRCm39)	F199L	probably damaging	Het
Gm8229	A	T	14: 44,602,928 (GRCm39)	H38L	unknown	Het
Magel2	T	C	7: 62,029,747 (GRCm39)	Y884H	unknown	Het
Miga1	A	T	3: 151,989,468 (GRCm39)	V473E	probably damaging	Het
Mrgprx1	C	T	7: 47,671,562 (GRCm39)	V62I	possibly damaging	Het
Mybl1	G	A	1: 9,755,917 (GRCm39)	P211S	possibly damaging	Het
Myo19	A	G	11: 84,786,134 (GRCm39)	H254R	probably benign	Het
Myo1h	A	G	5: 114,453,017 (GRCm39)	T6A	possibly damaging	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Or5b119	A	T	19: 13,456,794 (GRCm39)	M256K	possibly damaging	Het
Or8g20	T	C	9: 39,395,614 (GRCm39)	T309A	probably benign	Het
Psmd12	A	G	11: 107,377,280 (GRCm39)	E113G	possibly damaging	Het
Ptpn3	T	C	4: 57,195,730 (GRCm39)	D879G	possibly damaging	Het
Rufy3	A	G	5: 88,785,166 (GRCm39)	Q414R	probably damaging	Het
Slc14a2	A	G	18: 78,197,317 (GRCm39)	I813T	probably damaging	Het
Smok2a	G	T	17: 13,444,500 (GRCm39)	A26S	probably benign	Het
Spsb3	T	A	17: 25,110,550 (GRCm39)	L459Q	probably damaging	Het
Tacc2	T	C	7: 130,225,142 (GRCm39)	V609A	possibly damaging	Het
Tmem185b	C	A	1: 119,454,365 (GRCm39)	A42E	probably damaging	Het
Trim56	A	G	5: 137,141,470 (GRCm39)	V682A	probably damaging	Het
Trim75	T	C	8: 65,435,488 (GRCm39)	K321E	possibly damaging	Het
Ttc17	A	C	2: 94,133,891 (GRCm39)	M1098R	possibly damaging	Het
Zfp568	A	T	7: 29,716,682 (GRCm39)	H193L	probably benign	Het
Znhit1	A	G	5: 137,011,254 (GRCm39)	V153A	probably benign	Het

Other mutations in Ydjc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02834:Ydjc	APN	16	16,965,153 (GRCm39)	missense	probably benign	0.08
IGL02878:Ydjc	APN	16	16,965,469 (GRCm39)	missense	possibly damaging	0.74
R1659:Ydjc	UTSW	16	16,965,703 (GRCm39)	missense	possibly damaging	0.73
R1714:Ydjc	UTSW	16	16,965,663 (GRCm39)	missense	probably damaging	1.00
R2328:Ydjc	UTSW	16	16,964,986 (GRCm39)	missense	possibly damaging	0.93
R4857:Ydjc	UTSW	16	16,966,002 (GRCm39)	unclassified	probably benign
R6182:Ydjc	UTSW	16	16,964,943 (GRCm39)	missense	probably benign	0.00
R7341:Ydjc	UTSW	16	16,968,762 (GRCm39)	missense	probably benign	0.00
R7565:Ydjc	UTSW	16	16,964,869 (GRCm39)	missense	probably damaging	1.00
R8769:Ydjc	UTSW	16	16,968,732 (GRCm39)	missense	probably benign	0.00
R9170:Ydjc	UTSW	16	16,965,666 (GRCm39)	missense	probably benign
R9642:Ydjc	UTSW	16	16,966,073 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- AGTTCAAAGGCTGGAGCAGTC -3'
(R):5'- AGTTGGGAAGGCTGATGCTC -3'

Sequencing Primer
(F):5'- AAGGCTGGAGCAGTCGCATC -3'
(R):5'- AAGGCTGATGCTCACCGC -3'

Posted On

2018-05-24