Mutagenetix > Incidental Mutation

Incidental Mutation 'R9609:Dnaja4'

724096

Institutional Source

Beutler Lab

Gene Symbol

Dnaja4

Ensembl Gene

ENSMUSG00000032285

Gene Name

DnaJ heat shock protein family (Hsp40) member A4

Synonyms

1110021L12Rik, Dj4, Hsj4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9609 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54606157-54623599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 54616644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 216 (G216S)

Ref Sequence

ENSEMBL: ENSMUSP00000070413 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070070] [ENSMUST00000120452] [ENSMUST00000154690]

AlphaFold

Q9JMC3

Predicted Effect

probably null
Transcript: ENSMUST00000070070
AA Change: G216S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070413
Gene: ENSMUSG00000032285
AA Change: G216S

Domain	Start	End	E-Value	Type
DnaJ	5	60	1.41e-31	SMART
low complexity region	75	85	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	135	201	2.1e-15	PFAM
Pfam:CTDII	258	340	4.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120452
AA Change: G216S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112520
Gene: ENSMUSG00000032285
AA Change: G216S

Domain	Start	End	E-Value	Type
DnaJ	5	60	1.41e-31	SMART
low complexity region	75	85	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:DnaJ_C	108	330	9.7e-35	PFAM
Pfam:DnaJ_CXXCXGXG	135	201	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154690

SMART Domains

Protein: ENSMUSP00000119602
Gene: ENSMUSG00000032285

Domain	Start	End	E-Value	Type
DnaJ	5	60	1.41e-31	SMART
low complexity region	75	85	N/A	INTRINSIC
low complexity region	94	105	N/A	INTRINSIC
Pfam:DnaJ_CXXCXGXG	135	201	3.9e-17	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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,208,549 (GRCm39)	S241P	probably damaging	Het
Adam23	A	T	1: 63,576,102 (GRCm39)	M295L	probably benign	Het
Ano8	T	A	8: 71,933,726 (GRCm39)	D522V	unknown	Het
Asgr2	T	C	11: 69,988,667 (GRCm39)	L120P	probably damaging	Het
Atp5mc2	A	G	15: 102,573,580 (GRCm39)	F79L	probably damaging	Het
Baiap2	C	T	11: 119,847,958 (GRCm39)	R29C	probably damaging	Het
Bicdl2	A	G	17: 23,884,513 (GRCm39)	E145G		Het
Cad	T	C	5: 31,228,018 (GRCm39)		probably null	Het
Dhrs7b	A	G	11: 60,735,121 (GRCm39)	R51G	possibly damaging	Het
Dnah3	A	T	7: 119,670,236 (GRCm39)	Y694N	probably damaging	Het
Dync1h1	T	C	12: 110,607,362 (GRCm39)	V2651A	probably benign	Het
Fbxw28	T	C	9: 109,167,515 (GRCm39)	T81A	probably benign	Het
Fga	A	T	3: 82,940,064 (GRCm39)	I573F	probably damaging	Het
Fgd6	T	A	10: 93,879,674 (GRCm39)	I176N	probably damaging	Het
Fhl5	A	T	4: 25,214,653 (GRCm39)	C41*	probably null	Het
Fibcd1	A	G	2: 31,728,653 (GRCm39)	V68A	probably benign	Het
Fign	T	C	2: 63,810,286 (GRCm39)	D328G	probably benign	Het
Gtpbp10	A	C	5: 5,607,396 (GRCm39)	F15C	probably damaging	Het
Hmcn1	A	T	1: 150,555,346 (GRCm39)	V2475D	probably damaging	Het
Iglv3	A	G	16: 19,060,221 (GRCm39)	S36P	probably damaging	Het
Igsf10	G	T	3: 59,226,869 (GRCm39)	T2268N	probably damaging	Het
Krt75	A	G	15: 101,474,677 (GRCm39)	I473T	probably benign	Het
Lcn3	A	G	2: 25,657,596 (GRCm39)	E162G	possibly damaging	Het
Lnpk	A	G	2: 74,401,298 (GRCm39)	V17A	probably damaging	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mlip	T	A	9: 77,045,797 (GRCm39)	L894F	possibly damaging	Het
Muc4	A	T	16: 32,577,234 (GRCm39)	T175S		Het
Nkpd1	A	C	7: 19,257,462 (GRCm39)	I414L	possibly damaging	Het
Nrxn2	C	A	19: 6,540,203 (GRCm39)	N834K	probably damaging	Het
Oacyl	A	G	18: 65,843,599 (GRCm39)	T99A	probably benign	Het
Patj	T	G	4: 98,576,473 (GRCm39)	F570L	probably benign	Het
Piwil4	T	C	9: 14,614,443 (GRCm39)	T107A		Het
Ppp1r12b	G	A	1: 134,824,084 (GRCm39)	Q180*	probably null	Het
Prpf4b	A	G	13: 35,068,032 (GRCm39)	D287G	unknown	Het
Rab17	T	C	1: 90,891,907 (GRCm39)	Y39C	probably damaging	Het
Rbsn	T	A	6: 92,179,565 (GRCm39)	I125F	probably damaging	Het
Rnf207	C	A	4: 152,402,222 (GRCm39)	G74C	probably damaging	Het
Rrs1	T	C	1: 9,616,518 (GRCm39)	L257P	probably benign	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Scn8a	A	C	15: 100,834,407 (GRCm39)	I68L	possibly damaging	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc26a7	T	A	4: 14,532,636 (GRCm39)	I413F	probably damaging	Het
Slc4a11	T	A	2: 130,530,035 (GRCm39)	T248S	possibly damaging	Het
Spen	A	G	4: 141,215,419 (GRCm39)	I471T	unknown	Het
Tbpl2	C	T	2: 23,977,197 (GRCm39)	D274N	probably damaging	Het
Timm23	A	G	14: 31,902,543 (GRCm39)	M200T	probably benign	Het
Tlr3	T	C	8: 45,850,117 (GRCm39)	I851V	probably benign	Het
Tnfrsf18	T	A	4: 156,113,208 (GRCm39)	V298E	possibly damaging	Het
Trav6-3	A	G	14: 53,667,618 (GRCm39)	N41S	possibly damaging	Het
Trim17	C	A	11: 58,855,964 (GRCm39)	A7D	probably damaging	Het
Ttbk1	T	C	17: 46,758,148 (GRCm39)	T829A	probably damaging	Het
Ugt3a1	A	C	15: 9,361,905 (GRCm39)	E227A	probably damaging	Het
Vmn1r218	C	T	13: 23,320,839 (GRCm39)	T62I	probably benign	Het
Vmn2r100	T	C	17: 19,743,732 (GRCm39)	L465P	probably damaging	Het
Vps13c	A	T	9: 67,841,831 (GRCm39)	Q1951L	probably damaging	Het
Wdcp	A	G	12: 4,900,258 (GRCm39)	D38G	probably damaging	Het
Xdh	T	A	17: 74,231,990 (GRCm39)	Q240L	possibly damaging	Het
Zc3h4	T	A	7: 16,150,751 (GRCm39)	V23D	unknown	Het
Zkscan8	C	A	13: 21,709,434 (GRCm39)	V155F	possibly damaging	Het

Other mutations in Dnaja4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02977:Dnaja4	APN	9	54,621,794 (GRCm39)	missense	possibly damaging	0.93
PIT4305001:Dnaja4	UTSW	9	54,617,918 (GRCm39)	missense	probably benign	0.01
R2139:Dnaja4	UTSW	9	54,616,506 (GRCm39)	missense	probably benign	0.01
R4837:Dnaja4	UTSW	9	54,617,928 (GRCm39)	missense	probably benign	0.00
R5087:Dnaja4	UTSW	9	54,607,023 (GRCm39)	missense	probably damaging	0.99
R5862:Dnaja4	UTSW	9	54,606,625 (GRCm39)	unclassified	probably benign
R6722:Dnaja4	UTSW	9	54,607,038 (GRCm39)	missense	probably damaging	0.99
R6985:Dnaja4	UTSW	9	54,615,679 (GRCm39)	missense	probably benign	0.06
R7165:Dnaja4	UTSW	9	54,616,516 (GRCm39)	missense	probably damaging	1.00
R7228:Dnaja4	UTSW	9	54,621,569 (GRCm39)	missense	possibly damaging	0.88
R7762:Dnaja4	UTSW	9	54,616,494 (GRCm39)	missense	probably benign	0.03
R8879:Dnaja4	UTSW	9	54,621,988 (GRCm39)	unclassified	probably benign
R9069:Dnaja4	UTSW	9	54,621,638 (GRCm39)	missense	probably benign	0.01
X0057:Dnaja4	UTSW	9	54,607,088 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTCCACATCCAGCAGATTG -3'
(R):5'- GGTCAACTCGAAGGTCAAGAC -3'

Sequencing Primer
(F):5'- ACATCCAGCAGATTGGGCCG -3'
(R):5'- CTCGAAGGTCAAGACTTTTCAGAGC -3'

Posted On

2022-09-12