Mutagenetix > Incidental Mutations

Incidental Mutation 'R7116:Rsbn1'

551755

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 #

R7116 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103914120-103966636 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103914576 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 3 (C3*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029433] [ENSMUST00000051139] [ENSMUST00000068879] [ENSMUST00000146071]

AlphaFold

Q80T69

Predicted Effect

probably benign
Transcript: ENSMUST00000029433

SMART Domains

Protein: ENSMUSP00000029433
Gene: ENSMUSG00000027843

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
PTPc	23	291	3.32e-123	SMART
Blast:PTPc	305	502	2e-65	BLAST
PDB:1JEG\|B	605	629	2e-8	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000051139
AA Change: C42*

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: C42*

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 null
Transcript: ENSMUST00000068879
AA Change: C42*

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: C42*

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

noncoding transcript
Transcript: ENSMUST00000126548

Predicted Effect

probably benign
Transcript: ENSMUST00000146071

SMART Domains

Protein: ENSMUSP00000122307
Gene: ENSMUSG00000027843

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
PTPc	23	291	3.32e-123	SMART
Blast:PTPc	305	502	9e-66	BLAST
internal_repeat_1	567	629	1.92e-7	PROSPERO
internal_repeat_1	651	705	1.92e-7	PROSPERO

Predicted Effect

probably null
Transcript: ENSMUST00000151927
AA Change: C3*

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: C3*

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

Meta Mutation Damage Score

0.9650

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	A	G	12: 80,204,977	S109P	probably damaging	Het
Afg3l1	T	G	8: 123,489,862	L280R	probably damaging	Het
Akap13	T	A	7: 75,720,195	S129T	probably benign	Het
Ankrd11	A	G	8: 122,896,130	S328P	probably damaging	Het
Aox3	A	T	1: 58,153,530	E554D	probably benign	Het
Bcl11a	T	C	11: 24,163,839	V394A	probably damaging	Het
Cass4	A	G	2: 172,427,969	Y657C	unknown	Het
Ccdc88a	C	T	11: 29,504,051	A1738V	probably benign	Het
Cfap74	T	C	4: 155,455,061	F948L	unknown	Het
Chgb	A	T	2: 132,781,317		probably benign	Het
Coro1c	C	T	5: 113,852,206	W138*	probably null	Het
Dgkb	A	G	12: 37,981,990	Q17R	probably benign	Het
Esco2	A	G	14: 65,826,557	Y393H	probably damaging	Het
Eya3	T	A	4: 132,694,799	D228E	probably benign	Het
Fat2	T	C	11: 55,282,336	D2517G	probably damaging	Het
Fry	T	A	5: 150,395,869		probably null	Het
Gal3st2b	A	T	1: 93,940,776	Q243L	possibly damaging	Het
Gimap9	C	T	6: 48,678,055	A192V	probably benign	Het
Glg1	T	A	8: 111,178,957	Q564L	probably benign	Het
H2-Aa	A	T	17: 34,283,627	Y188*	probably null	Het
Hira	T	C	16: 18,912,114	Y188H	probably damaging	Het
Ighv8-8	C	T	12: 115,294,194	D76N	probably benign	Het
Irf6	T	C	1: 193,167,597	F276L	probably damaging	Het
Itpr1	T	C	6: 108,481,268	C2000R	probably damaging	Het
Jakmip3	T	C	7: 139,020,250	V293A	possibly damaging	Het
Kcnh7	A	G	2: 62,877,270	V132A	probably benign	Het
Kcnj1	A	G	9: 32,396,981	T234A	possibly damaging	Het
Kpna3	T	A	14: 61,368,186	N470I	probably benign	Het
Lamb2	T	C	9: 108,487,323	F1121L	probably damaging	Het
Lingo1	T	C	9: 56,620,627	D232G	probably benign	Het
Lpxn	T	A	19: 12,811,258	N70K	probably benign	Het
Ltbp4	T	A	7: 27,305,427	H1657L	probably damaging	Het
Luzp2	C	A	7: 55,265,330	F334L	possibly damaging	Het
Mgat5b	A	T	11: 116,944,959	S142C	possibly damaging	Het
Mroh7	G	A	4: 106,711,320	T396I	probably benign	Het
Muc5b	T	C	7: 141,863,750	S3478P	probably benign	Het
Nfatc2	A	T	2: 168,507,349	M626K	probably benign	Het
Nlrp14	A	G	7: 107,183,048	D484G	possibly damaging	Het
Npc1	T	C	18: 12,211,544	Y423C	probably damaging	Het
Nrsn1	A	G	13: 25,253,405	I180T	probably damaging	Het
Olfr570	T	A	7: 102,900,635	N89K	probably benign	Het
Olfr741	A	T	14: 50,485,568	I37F	probably benign	Het
Osbpl6	A	T	2: 76,595,881	I935F	probably benign	Het
Otog	T	C	7: 46,298,265	F96L	probably damaging	Het
Pde1b	T	C	15: 103,528,318	L534P	possibly damaging	Het
Pdzd8	C	T	19: 59,299,693	E1092K	probably damaging	Het
Pfkl	T	C	10: 78,001,415	H108R	probably benign	Het
Pkhd1l1	G	A	15: 44,557,976	V3047I	probably benign	Het
Plag1	A	T	4: 3,904,812	C126*	probably null	Het
Pphln1	T	A	15: 93,455,525	S229T	probably benign	Het
Pramel5	C	T	4: 144,273,881	D42N	possibly damaging	Het
Psd3	A	G	8: 67,713,738	V915A	probably benign	Het
Ptdss1	T	A	13: 66,945,327	I77N	probably benign	Het
Shank1	C	T	7: 44,327,161	A561V	unknown	Het
Stip1	C	T	19: 7,021,810	G467S	possibly damaging	Het
Sv2c	A	T	13: 95,976,644	V599E	probably damaging	Het
Vmn2r37	T	C	7: 9,217,899	T322A	probably benign	Het
Vmn2r60	T	A	7: 42,137,063	M430K	probably benign	Het
Wipf3	T	A	6: 54,481,919		probably null	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
R6629:Rsbn1	UTSW	3	103928441	missense	probably damaging	1.00
R7070:Rsbn1	UTSW	3	103928983	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- ATAGAAGCTCGGTTGGCGAG -3'
(R):5'- TCCTTGTGCTTGAGATCGCC -3'

Sequencing Primer
(F):5'- AGGTCTGCGGAGAGGTGTC -3'
(R):5'- GCATTCGTTGGAGGCAGC -3'

Posted On

2019-05-15