Mutagenetix > Incidental Mutations

Incidental Mutation 'R6629:Rsbn1'

524962

Institutional Source

Beutler Lab

Gene Symbol

Rsbn1

Ensembl Gene

ENSMUSG00000044098

Gene Name

rosbin, round spermatid basic protein 1

Synonyms

C230004D03Rik, Rsbp

MMRRC Submission

Accession Numbers

Genbank: NM_172684; MGI: 2444993

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6629 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103914120-103966636 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103928441 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 265 (D265A)

Ref Sequence

ENSEMBL: ENSMUSP00000069246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051139] [ENSMUST00000068879]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051139
AA Change: D265A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: D265A

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	84	109	N/A	INTRINSIC
low complexity region	136	151	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC
low complexity region	466	477	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000068879
AA Change: D265A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: D265A

Domain	Start	End	E-Value	Type
low complexity region	21	36	N/A	INTRINSIC
low complexity region	49	64	N/A	INTRINSIC
low complexity region	106	123	N/A	INTRINSIC
low complexity region	131	156	N/A	INTRINSIC
low complexity region	183	198	N/A	INTRINSIC
low complexity region	252	261	N/A	INTRINSIC
low complexity region	513	524	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000151927
AA Change: D226A

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: D226A

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	84	109	N/A	INTRINSIC
low complexity region	136	151	N/A	INTRINSIC
low complexity region	205	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185731

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

97% (38/39)

Allele List at MGI

All alleles(9) : Targeted, other(3) Gene trapped(6)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	T	C	18: 57,730,780	S219P	possibly damaging	Het
Atxn3	A	T	12: 101,937,406	M180K	probably benign	Het
Bnip2	G	T	9: 70,002,111	R236L	probably null	Het
Boc	T	C	16: 44,492,361	D582G	probably benign	Het
Cacul1	T	C	19: 60,580,367	S118G	probably benign	Het
Cpa2	A	T	6: 30,554,194	D271V	probably damaging	Het
Cubn	G	A	2: 13,430,872	T1091M	probably damaging	Het
Dlgap2	A	G	8: 14,831,465	T846A	probably benign	Het
Eif5	G	T	12: 111,543,608	A329S	probably damaging	Het
Fam136b-ps	G	A	15: 31,276,816		probably benign	Het
Gnrhr	A	G	5: 86,182,309	V284A	probably benign	Het
Grin3a	A	G	4: 49,844,991	S31P	probably damaging	Het
Hectd2	T	C	19: 36,615,538	L701P	probably damaging	Het
Hook1	C	T	4: 96,001,270	T241I	probably benign	Het
Kif5a	A	G	10: 127,248,254	V52A	probably damaging	Het
Lasp1	T	A	11: 97,806,896	Y11*	probably null	Het
Meltf	A	G	16: 31,885,076	Y207C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTACTACTACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,841,267		probably benign	Het
Nek1	A	G	8: 61,054,333		probably null	Het
Notch2	C	A	3: 98,120,881	N969K	possibly damaging	Het
Olfr1221	T	A	2: 89,112,162	M117L	probably benign	Het
Pcnx2	C	T	8: 125,891,112	G135R	probably benign	Het
Pla2g4f	A	T	2: 120,308,242	L242Q	probably damaging	Het
Plcxd2	T	G	16: 45,965,107	T312P	probably damaging	Het
Prpf4	G	A	4: 62,417,860	V275I	possibly damaging	Het
Prpf8	G	A	11: 75,495,426		probably null	Het
Pxn	T	C	5: 115,554,062	L401P	probably damaging	Het
Rab44	A	T	17: 29,135,780		probably benign	Het
Rfx6	C	A	10: 51,725,490	T669K	probably benign	Het
Rgs16	A	G	1: 153,743,674	N142S	probably damaging	Het
Rhobtb1	A	G	10: 69,270,316	E237G	possibly damaging	Het
Rufy4	A	G	1: 74,132,367		probably null	Het
Slc4a1	C	A	11: 102,361,222	E19*	probably null	Het
Tctn1	A	G	5: 122,242,668	S526P	probably damaging	Het
Tspear	A	T	10: 77,870,509	H371L	probably benign	Het
Vmn1r34	A	T	6: 66,637,515	F80I	probably benign	Het
Wdr75	G	A	1: 45,812,056	S264N	probably damaging	Het
Zfp652	A	T	11: 95,763,790	N340Y	probably damaging	Het
Zp3	A	G	5: 135,987,336	T306A	probably benign	Het

Other mutations in Rsbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Rsbn1	APN	3	103928690	missense	probably benign	0.01
IGL00725:Rsbn1	APN	3	103928821	missense	probably damaging	0.96
IGL01682:Rsbn1	APN	3	103962380	missense	probably benign	0.03
IGL01978:Rsbn1	APN	3	103961500	missense	probably damaging	0.99
IGL02281:Rsbn1	APN	3	103962461	missense	probably damaging	0.99
IGL02615:Rsbn1	APN	3	103953752	missense	probably damaging	1.00
IGL02902:Rsbn1	APN	3	103953656	missense	possibly damaging	0.62
IGL02903:Rsbn1	APN	3	103928569	missense	probably damaging	1.00
IGL02927:Rsbn1	APN	3	103962352	missense	probably benign
IGL03007:Rsbn1	APN	3	103928879	missense	probably damaging	1.00
IGL03062:Rsbn1	APN	3	103953629	intron	probably benign
IGL03345:Rsbn1	APN	3	103915150	missense	possibly damaging	0.78
F2404:Rsbn1	UTSW	3	103914576	nonsense	probably null
R0277:Rsbn1	UTSW	3	103914581	missense	possibly damaging	0.66
R0815:Rsbn1	UTSW	3	103954153	missense	probably damaging	0.98
R1760:Rsbn1	UTSW	3	103960031	missense	probably damaging	1.00
R1801:Rsbn1	UTSW	3	103914872	missense	probably damaging	0.97
R2021:Rsbn1	UTSW	3	103914473	missense	probably benign
R2078:Rsbn1	UTSW	3	103961523	missense	probably damaging	1.00
R2330:Rsbn1	UTSW	3	103914500	missense	probably damaging	0.97
R3956:Rsbn1	UTSW	3	103928675	missense	probably damaging	0.99
R4094:Rsbn1	UTSW	3	103928658	missense	probably damaging	0.98
R4649:Rsbn1	UTSW	3	103953780	splice site	probably null
R4720:Rsbn1	UTSW	3	103929020	missense	possibly damaging	0.92
R5299:Rsbn1	UTSW	3	103914490	missense	probably benign	0.01
R5505:Rsbn1	UTSW	3	103928943	missense	probably damaging	1.00
R5699:Rsbn1	UTSW	3	103962485	missense	probably benign	0.02
R5775:Rsbn1	UTSW	3	103962572	missense	possibly damaging	0.80
R6509:Rsbn1	UTSW	3	103960032	missense	probably damaging	1.00
R7070:Rsbn1	UTSW	3	103928983	missense	probably damaging	1.00
R7116:Rsbn1	UTSW	3	103914576	nonsense	probably null
R7623:Rsbn1	UTSW	3	103915010	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCCATGGTCTTGCACATATTAAG -3'
(R):5'- ACCCGATATTCTTGCATGCC -3'

Sequencing Primer
(F):5'- CATGGTCTTGCACATATTAAGAAGTG -3'
(R):5'- TGCCCAAATTTAATCTGCACAGCTG -3'

Posted On

2018-06-22