Mutagenetix > Incidental Mutation

Incidental Mutation 'R0391:Rad54b'

31668

Institutional Source

Beutler Lab

Gene Symbol

Rad54b

Ensembl Gene

ENSMUSG00000078773

Gene Name

RAD54 homolog B (S. cerevisiae)

Synonyms

E130016E03Rik, E130016E03Rik

MMRRC Submission

038597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0391 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11558930-11615806 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11601702 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 419 (I419T)

Ref Sequence

ENSEMBL: ENSMUSP00000066977 (fasta)

Gene Model

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

AlphaFold

Q6PFE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000070755
AA Change: I419T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: I419T

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

probably benign
Transcript: ENSMUST00000178725

Meta Mutation Damage Score

0.1764

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.8%

Validation Efficiency

97% (97/100)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,594,970 (GRCm39)		probably benign	Het
Abcc2	G	A	19: 43,810,044 (GRCm39)		probably benign	Het
Abcc8	C	G	7: 45,771,597 (GRCm39)	G838A	probably damaging	Het
Akr1c21	G	A	13: 4,631,199 (GRCm39)	A245T	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,139 (GRCm39)	E47G	probably damaging	Het
Apoa1	A	G	9: 46,141,140 (GRCm39)	T79A	probably benign	Het
Atp6v1b1	A	G	6: 83,733,903 (GRCm39)	H378R	possibly damaging	Het
C4b	A	G	17: 34,954,588 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,969,821 (GRCm39)	E638D	probably benign	Het
Cckar	C	T	5: 53,863,595 (GRCm39)		probably null	Het
Cfap100	C	T	6: 90,382,321 (GRCm39)		probably benign	Het
Chd1	G	T	17: 15,970,156 (GRCm39)	G970C	probably damaging	Het
Col14a1	A	G	15: 55,309,655 (GRCm39)		probably benign	Het
Col17a1	C	T	19: 47,652,263 (GRCm39)	V698M	probably damaging	Het
Cpeb1	T	C	7: 81,011,473 (GRCm39)	D156G	possibly damaging	Het
Cryl1	A	G	14: 57,541,232 (GRCm39)	Y151H	possibly damaging	Het
Csmd3	C	A	15: 47,520,969 (GRCm39)	V1881L	probably damaging	Het
Ctnnal1	C	T	4: 56,847,921 (GRCm39)	A73T	probably damaging	Het
Cyp2c37	T	C	19: 39,982,950 (GRCm39)	S180P	probably damaging	Het
Cyp2c54	T	C	19: 40,060,613 (GRCm39)	T123A	possibly damaging	Het
Dennd6b	T	C	15: 89,071,417 (GRCm39)	D304G	probably damaging	Het
Dnmt3l	T	C	10: 77,887,750 (GRCm39)		probably benign	Het
Eci1	G	A	17: 24,652,234 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,030,412 (GRCm39)	Y115C	probably damaging	Het
Ern1	T	A	11: 106,298,004 (GRCm39)	K706*	probably null	Het
Ghrl	T	C	6: 113,696,299 (GRCm39)	E31G	probably damaging	Het
Gpr108	A	C	17: 57,550,101 (GRCm39)	V179G	probably benign	Het
Henmt1	A	G	3: 108,865,851 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,444,011 (GRCm39)	V69A	probably damaging	Het
Il17ra	T	C	6: 120,453,940 (GRCm39)		probably benign	Het
Il17rb	T	C	14: 29,726,304 (GRCm39)	N95D	probably benign	Het
Il17rb	G	T	14: 29,728,112 (GRCm39)		probably null	Het
Iqub	G	A	6: 24,446,154 (GRCm39)	L757F	probably benign	Het
Itpr1	T	C	6: 108,355,128 (GRCm39)	V473A	probably benign	Het
Itpr2	T	G	6: 146,131,271 (GRCm39)	N1978H	probably damaging	Het
Klk1b26	T	A	7: 43,662,151 (GRCm39)	F3Y	probably damaging	Het
Lars1	A	G	18: 42,384,428 (GRCm39)	V50A	probably benign	Het
Lax1	G	T	1: 133,607,804 (GRCm39)	H312Q	probably benign	Het
Lctl	T	C	9: 64,029,596 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,287,202 (GRCm39)	D3745V	probably damaging	Het
Lrp2	G	A	2: 69,290,681 (GRCm39)		probably benign	Het
Lvrn	A	T	18: 46,983,533 (GRCm39)	H92L	probably benign	Het
Marchf1	A	G	8: 66,871,625 (GRCm39)	T385A	probably damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Mbd5	T	C	2: 49,162,428 (GRCm39)	V970A	possibly damaging	Het
Mccc1	A	G	3: 36,017,719 (GRCm39)		probably benign	Het
Mpp4	A	T	1: 59,182,988 (GRCm39)		probably benign	Het
Mrnip	G	A	11: 50,090,747 (GRCm39)	A304T	probably damaging	Het
Muc5b	T	C	7: 141,418,819 (GRCm39)	S3922P	possibly damaging	Het
Myh3	T	A	11: 66,987,333 (GRCm39)		probably benign	Het
Nbea	A	T	3: 55,944,698 (GRCm39)	H555Q	probably damaging	Het
Niban3	T	A	8: 72,055,143 (GRCm39)		probably benign	Het
Nlrp9c	A	T	7: 26,070,901 (GRCm39)		probably benign	Het
Nmur1	A	T	1: 86,315,400 (GRCm39)	V178E	probably damaging	Het
Nod2	T	G	8: 89,390,406 (GRCm39)	S238A	probably benign	Het
Ogfod1	A	T	8: 94,789,651 (GRCm39)	T451S	probably damaging	Het
Or1e17	T	C	11: 73,831,935 (GRCm39)	F288L	probably damaging	Het
Or2d36	T	A	7: 106,747,394 (GRCm39)	Y290*	probably null	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or8b8	G	A	9: 37,809,138 (GRCm39)	G146D	probably benign	Het
Pcdh20	T	C	14: 88,706,104 (GRCm39)	I399V	probably benign	Het
Pdlim1	G	T	19: 40,232,017 (GRCm39)	H120Q	probably damaging	Het
Plg	T	C	17: 12,637,968 (GRCm39)	V798A	probably damaging	Het
Polr2c	A	G	8: 95,584,403 (GRCm39)	I39V	possibly damaging	Het
Ppfia2	C	A	10: 106,666,575 (GRCm39)		probably benign	Het
Ppp1r3a	A	T	6: 14,719,696 (GRCm39)	I406N	probably benign	Het
Psg28	A	T	7: 18,160,098 (GRCm39)	M366K	probably benign	Het
Rnf43	A	G	11: 87,622,108 (GRCm39)	Q403R	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Slc28a3	A	G	13: 58,717,229 (GRCm39)		probably benign	Het
Smad2	A	T	18: 76,422,108 (GRCm39)		probably null	Het
Smad4	G	A	18: 73,791,720 (GRCm39)	P274S	probably benign	Het
Smchd1	A	T	17: 71,710,149 (GRCm39)	V906D	probably damaging	Het
Soat2	C	A	15: 102,067,188 (GRCm39)	R320S	possibly damaging	Het
Spata33	C	T	8: 123,948,626 (GRCm39)	A57V	probably damaging	Het
Stab1	A	G	14: 30,865,375 (GRCm39)	L1814P	probably benign	Het
Stab2	T	C	10: 86,783,008 (GRCm39)	K680R	probably benign	Het
Stil	A	G	4: 114,898,369 (GRCm39)		probably null	Het
Sympk	T	A	7: 18,780,774 (GRCm39)	L759H	probably benign	Het
Tet1	A	T	10: 62,650,325 (GRCm39)		probably null	Het
Tfpi2	A	T	6: 3,965,460 (GRCm39)	N117K	probably benign	Het
Tle3	A	G	9: 61,323,943 (GRCm39)	Y766C	probably damaging	Het
Trpt1	C	A	19: 6,975,298 (GRCm39)		probably null	Het
Tshz1	A	G	18: 84,034,174 (GRCm39)	F78S	possibly damaging	Het
Ttc1	T	C	11: 43,629,635 (GRCm39)	D177G	probably damaging	Het
Ttc13	T	A	8: 125,401,140 (GRCm39)	Y741F	probably damaging	Het
Ulk3	C	T	9: 57,502,115 (GRCm39)	S462L	probably benign	Het
Utrn	C	T	10: 12,401,077 (GRCm39)		probably benign	Het
V1rd19	A	C	7: 23,703,010 (GRCm39)	T159P	probably damaging	Het
Vars1	T	C	17: 35,230,462 (GRCm39)	V515A	possibly damaging	Het
Vmn1r85	A	G	7: 12,818,515 (GRCm39)	Y210H	probably benign	Het
Vmn2r89	A	G	14: 51,693,435 (GRCm39)	T262A	probably damaging	Het
Vps53	G	A	11: 76,012,405 (GRCm39)	T209I	probably benign	Het
Wdfy2	T	C	14: 63,162,582 (GRCm39)	F95L	possibly damaging	Het
Wwp1	G	T	4: 19,627,911 (GRCm39)	S694Y	probably damaging	Het
Zbtb8b	T	A	4: 129,326,463 (GRCm39)	D201V	probably damaging	Het
Zmym5	A	C	14: 57,041,908 (GRCm39)	N123K	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
IGL00961:Rad54b	APN	4	11,599,699 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCCAAGCCTTCGTAATGCAGCC -3'
(R):5'- TGAATTTCCCCAACATCACCAGGTC -3'

Sequencing Primer
(F):5'- GGGCAAAATCCGTTGCTTC -3'
(R):5'- AGGTCTGTTTCTGTCAAGCATC -3'

Posted On

2013-04-24