Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02903:Rsbn1'

363695

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsbn1

Ensembl Gene

ENSMUSG00000044098

Gene Name

rosbin, round spermatid basic protein 1

Synonyms

C230004D03Rik, Rsbp

Accession Numbers

Genbank: NM_172684; MGI: 2444993

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02903

Quality Score

Status

Chromosome

Chromosomal Location

103914120-103966636 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103928569 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 308 (S308P)

Ref Sequence

ENSEMBL: ENSMUSP00000069246 (fasta)

Gene Model

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

AlphaFold

Q80T69

Predicted Effect

probably damaging
Transcript: ENSMUST00000051139
AA Change: S308P

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

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: S308P

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: S308P

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

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: S308P

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: S269P

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: S269P

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	T	15: 8,269,778	R3150M	unknown	Het
2410089E03Rik	G	T	15: 8,269,779	R3150S	unknown	Het
4931417E11Rik	A	G	6: 73,469,120	Y149H	probably damaging	Het
Alox5	T	G	6: 116,420,335	N296T	probably damaging	Het
Anks6	C	T	4: 47,045,004	E301K	probably damaging	Het
Astn1	A	G	1: 158,688,550	S1237G	probably damaging	Het
Atf6	G	A	1: 170,799,714	P394S	probably benign	Het
Atp4a	G	A	7: 30,715,919	M321I	probably benign	Het
C4bp	G	A	1: 130,655,985	T82I	probably damaging	Het
Cask	A	T	X: 13,552,447		probably benign	Het
Cenpf	A	T	1: 189,646,876	S2906T	probably damaging	Het
Cfl1	T	C	19: 5,492,800	F103L	probably benign	Het
Chrnb3	A	T	8: 27,386,806	T83S	probably damaging	Het
Cmtr2	A	G	8: 110,222,878	T607A	probably benign	Het
Cts7	A	T	13: 61,356,626		probably benign	Het
Dgkz	A	T	2: 91,939,962	Y514N	possibly damaging	Het
Dmrtc1b	T	A	X: 102,713,567	L206Q	probably benign	Het
Dus3l	C	T	17: 56,768,363	L397F	probably damaging	Het
Fam159b	T	A	13: 104,863,610	Y35F	probably benign	Het
Gm13089	A	T	4: 143,699,166	M69K	probably benign	Het
Gm6356	C	T	14: 6,973,735	G27E	probably damaging	Het
Hkdc1	C	T	10: 62,400,191		probably null	Het
Kcmf1	A	T	6: 72,858,883	V21E	possibly damaging	Het
Kcnh4	T	A	11: 100,757,654	T75S	possibly damaging	Het
Lemd2	A	G	17: 27,193,210		probably benign	Het
Magee1	G	T	X: 105,123,339	R910L	probably damaging	Het
Mcm3ap	T	C	10: 76,471,258		probably benign	Het
Mfsd4b3	T	A	10: 39,947,643	E207V	possibly damaging	Het
Olfr1354	A	G	10: 78,917,416	D192G	probably damaging	Het
Olfr697	A	G	7: 106,741,710	S75P	probably damaging	Het
Pappa	T	C	4: 65,261,980	V1026A	probably damaging	Het
Paxip1	A	G	5: 27,748,872	L942P	probably damaging	Het
Ppp1r12b	A	T	1: 134,955,649	L45Q	probably benign	Het
Ptprq	T	C	10: 107,666,586	T824A	possibly damaging	Het
Rfwd3	T	C	8: 111,278,229	T574A	probably benign	Het
Smr2	A	T	5: 88,108,630	I56F	probably benign	Het
Wdfy4	C	T	14: 33,109,650	R873H	probably damaging	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
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
R6629:Rsbn1	UTSW	3	103928441	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
R8021:Rsbn1	UTSW	3	103928582	missense	possibly damaging	0.81
R8524:Rsbn1	UTSW	3	103928371	nonsense	probably null
R8525:Rsbn1	UTSW	3	103914222	unclassified	probably benign
R8948:Rsbn1	UTSW	3	103961514	missense	possibly damaging	0.90
R9003:Rsbn1	UTSW	3	103914872	missense	probably damaging	0.97
R9502:Rsbn1	UTSW	3	103914830	missense	possibly damaging	0.92

Posted On

2015-12-18