Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00961:Rad54b'

27304

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00961

Quality Score

Status

Chromosome

Chromosomal Location

11558930-11615806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11599699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 301 (I301T)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070755]

AlphaFold

Q6PFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: I301T

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

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: I301T

Domain	Start	End	E-Value	Type
low complexity region	113	121	N/A	INTRINSIC
low complexity region	164	178	N/A	INTRINSIC
DEXDc	270	470	4.36e-36	SMART
HELICc	652	736	6.14e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000178725
AA Change: I78T

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179731

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an increased sensitivity to ionizing radiation and other agents of DNA damage but outherwise have a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921522P10Rik	C	A	8: 8,713,425 (GRCm39)		probably benign	Het
Arfgef3	T	A	10: 18,486,985 (GRCm39)	I1350F	probably damaging	Het
Arfip1	A	G	3: 84,405,095 (GRCm39)	V236A	probably benign	Het
Bicc1	A	G	10: 70,796,987 (GRCm39)	I124T	probably damaging	Het
Cacnb4	T	A	2: 52,367,724 (GRCm39)	I82F	possibly damaging	Het
Card11	A	T	5: 140,885,464 (GRCm39)	M365K	probably damaging	Het
Chd2	A	G	7: 73,093,997 (GRCm39)	S1560P	probably damaging	Het
Depdc1a	T	A	3: 159,229,451 (GRCm39)	N594K	possibly damaging	Het
Dmbx1	A	T	4: 115,777,203 (GRCm39)	V215E	probably benign	Het
Farp2	A	T	1: 93,549,035 (GRCm39)	E1047V	possibly damaging	Het
Gm21759	A	T	5: 8,229,731 (GRCm39)		probably benign	Het
Gpr182	C	T	10: 127,586,559 (GRCm39)	V131I	probably benign	Het
Irx1	T	C	13: 72,108,076 (GRCm39)	D202G	probably damaging	Het
Lrp6	T	C	6: 134,484,609 (GRCm39)	D338G	probably damaging	Het
Nrxn3	A	T	12: 90,171,320 (GRCm39)	I241L	possibly damaging	Het
Parp6	A	G	9: 59,540,242 (GRCm39)	Y265C	probably damaging	Het
Prex1	G	T	2: 166,427,656 (GRCm39)	Q999K	probably damaging	Het
Rnf213	A	T	11: 119,331,669 (GRCm39)	I2294F	possibly damaging	Het
Ska3	T	C	14: 58,059,581 (GRCm39)	I81M	possibly damaging	Het
Smap1	T	C	1: 23,887,355 (GRCm39)	N308S	probably benign	Het
Stag3	A	G	5: 138,296,611 (GRCm39)	K490E	probably benign	Het
Stk11ip	C	T	1: 75,506,910 (GRCm39)	R664C	probably damaging	Het
Tmem176b	T	A	6: 48,811,004 (GRCm39)	I259F	possibly damaging	Het
Usp37	T	C	1: 74,529,314 (GRCm39)	T122A	probably benign	Het
Vmn2r7	T	C	3: 64,623,234 (GRCm39)	E453G	possibly damaging	Het

Other mutations in Rad54b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00770:Rad54b	APN	4	11,593,765 (GRCm39)	missense	probably benign
IGL00774:Rad54b	APN	4	11,593,765 (GRCm39)	missense	probably benign
IGL00956:Rad54b	APN	4	11,597,833 (GRCm39)	missense	probably damaging	0.98
IGL01064:Rad54b	APN	4	11,604,866 (GRCm39)	missense	probably damaging	1.00
IGL02150:Rad54b	APN	4	11,610,502 (GRCm39)	missense	probably damaging	1.00
IGL02326:Rad54b	APN	4	11,612,713 (GRCm39)	missense	probably damaging	1.00
IGL03105:Rad54b	APN	4	11,615,569 (GRCm39)	missense	probably benign	0.00
IGL03143:Rad54b	APN	4	11,599,755 (GRCm39)	missense	probably damaging	1.00
IGL03288:Rad54b	APN	4	11,569,833 (GRCm39)	missense	possibly damaging	0.83
kerplunk	UTSW	4	11,612,655 (GRCm39)	missense	probably damaging	1.00
Schnipfel	UTSW	4	11,583,689 (GRCm39)	unclassified	probably benign
P0033:Rad54b	UTSW	4	11,609,285 (GRCm39)	unclassified	probably benign
R0076:Rad54b	UTSW	4	11,609,480 (GRCm39)	unclassified	probably benign
R0094:Rad54b	UTSW	4	11,599,681 (GRCm39)	missense	possibly damaging	0.92
R0391:Rad54b	UTSW	4	11,601,702 (GRCm39)	missense	probably damaging	0.98
R0441:Rad54b	UTSW	4	11,563,394 (GRCm39)	missense	probably benign	0.08
R0442:Rad54b	UTSW	4	11,610,362 (GRCm39)	missense	probably benign	0.02
R0442:Rad54b	UTSW	4	11,609,480 (GRCm39)	unclassified	probably benign
R0449:Rad54b	UTSW	4	11,606,131 (GRCm39)	missense	probably benign	0.43
R0519:Rad54b	UTSW	4	11,599,809 (GRCm39)	missense	probably damaging	1.00
R0843:Rad54b	UTSW	4	11,609,471 (GRCm39)	critical splice donor site	probably null
R1118:Rad54b	UTSW	4	11,563,352 (GRCm39)	missense	probably damaging	1.00
R1439:Rad54b	UTSW	4	11,606,152 (GRCm39)	missense	possibly damaging	0.90
R1763:Rad54b	UTSW	4	11,604,989 (GRCm39)	missense	possibly damaging	0.52
R1812:Rad54b	UTSW	4	11,612,770 (GRCm39)	missense	probably damaging	1.00
R1854:Rad54b	UTSW	4	11,601,669 (GRCm39)	missense	probably damaging	1.00
R1917:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R1918:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R1919:Rad54b	UTSW	4	11,601,693 (GRCm39)	missense	probably damaging	1.00
R2057:Rad54b	UTSW	4	11,606,088 (GRCm39)	missense	probably benign	0.08
R2386:Rad54b	UTSW	4	11,597,874 (GRCm39)	missense	probably benign
R2437:Rad54b	UTSW	4	11,606,272 (GRCm39)	missense	probably damaging	1.00
R4299:Rad54b	UTSW	4	11,597,865 (GRCm39)	missense	probably damaging	1.00
R4391:Rad54b	UTSW	4	11,615,570 (GRCm39)	missense	probably benign	0.00
R4672:Rad54b	UTSW	4	11,609,449 (GRCm39)	missense	probably benign	0.05
R4673:Rad54b	UTSW	4	11,609,449 (GRCm39)	missense	probably benign	0.05
R4826:Rad54b	UTSW	4	11,599,753 (GRCm39)	missense	probably damaging	1.00
R4930:Rad54b	UTSW	4	11,615,579 (GRCm39)	missense	probably damaging	0.99
R5796:Rad54b	UTSW	4	11,615,446 (GRCm39)	missense	probably benign	0.01
R5901:Rad54b	UTSW	4	11,595,919 (GRCm39)	missense	possibly damaging	0.84
R6185:Rad54b	UTSW	4	11,593,804 (GRCm39)	missense	possibly damaging	0.51
R6355:Rad54b	UTSW	4	11,604,989 (GRCm39)	missense	possibly damaging	0.52
R6576:Rad54b	UTSW	4	11,601,577 (GRCm39)	missense	probably benign
R6684:Rad54b	UTSW	4	11,583,689 (GRCm39)	unclassified	probably benign
R6821:Rad54b	UTSW	4	11,612,777 (GRCm39)	missense	probably damaging	1.00
R6947:Rad54b	UTSW	4	11,569,859 (GRCm39)	missense	possibly damaging	0.83
R7177:Rad54b	UTSW	4	11,599,755 (GRCm39)	missense	probably damaging	1.00
R7361:Rad54b	UTSW	4	11,599,782 (GRCm39)	missense	probably damaging	1.00
R7483:Rad54b	UTSW	4	11,610,372 (GRCm39)	missense	probably damaging	1.00
R7511:Rad54b	UTSW	4	11,578,956 (GRCm39)	splice site	probably null
R7847:Rad54b	UTSW	4	11,612,655 (GRCm39)	missense	probably damaging	1.00
R7908:Rad54b	UTSW	4	11,595,868 (GRCm39)	missense	probably null	0.01
R8198:Rad54b	UTSW	4	11,612,440 (GRCm39)	critical splice donor site	probably null
R9140:Rad54b	UTSW	4	11,610,386 (GRCm39)	missense	probably damaging	1.00
R9213:Rad54b	UTSW	4	11,609,321 (GRCm39)	nonsense	probably null

Posted On

2013-04-17