Mutagenetix > Incidental Mutation

Incidental Mutation 'R5699:Rsbn1'

446551

Institutional Source

Beutler Lab

Gene Symbol

Rsbn1

Ensembl Gene

ENSMUSG00000044098

Gene Name

rosbin, round spermatid basic protein 1

Synonyms

C230004D03Rik, Rsbp

MMRRC Submission

043327-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103821436-103873952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103869801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 754 (F754S)

Ref Sequence

ENSEMBL: ENSMUSP00000069246 (fasta)

Gene Model

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

AlphaFold

Q80T69

Predicted Effect

probably benign
Transcript: ENSMUST00000051139
AA Change: F754S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: F754S

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 benign
Transcript: ENSMUST00000068879
AA Change: F754S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: F754S

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

probably benign
Transcript: ENSMUST00000106806
AA Change: F707S

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102418
Gene: ENSMUSG00000044098
AA Change: F707S

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 benign
Transcript: ENSMUST00000151927

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098

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

noncoding transcript
Transcript: ENSMUST00000160110

Predicted Effect

probably benign
Transcript: ENSMUST00000185731

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	A	G	9: 8,225,320 (GRCm39)		noncoding transcript	Het
4930486L24Rik	A	G	13: 61,001,410 (GRCm39)	F106L	possibly damaging	Het
Adam11	A	T	11: 102,664,466 (GRCm39)	M385L	probably benign	Het
Adgre1	C	T	17: 57,788,007 (GRCm39)	P925S	probably benign	Het
Adh7	G	A	3: 137,932,087 (GRCm39)	A234T	probably benign	Het
Ano2	A	G	6: 125,849,703 (GRCm39)	E475G	probably damaging	Het
C2cd4c	A	G	10: 79,448,385 (GRCm39)	V254A	probably benign	Het
Car13	A	G	3: 14,715,749 (GRCm39)	Y89C	probably damaging	Het
Cd38	A	G	5: 44,057,728 (GRCm39)	K100R	probably damaging	Het
Cdh11	A	G	8: 103,361,175 (GRCm39)	I721T	probably damaging	Het
Cdh2	G	A	18: 16,779,579 (GRCm39)	Q161*	probably null	Het
Clk1	T	C	1: 58,459,354 (GRCm39)	K135R	probably damaging	Het
Col5a1	G	A	2: 27,887,611 (GRCm39)	G961R	unknown	Het
Cpt1b	T	A	15: 89,308,476 (GRCm39)	I151F	probably benign	Het
Cyp51	A	G	5: 4,151,213 (GRCm39)	F139L	probably damaging	Het
Disp1	TTGA	T	1: 182,870,119 (GRCm39)		probably null	Het
Dnah8	T	C	17: 31,029,298 (GRCm39)	I4089T	probably benign	Het
Dnali1	C	T	4: 124,952,843 (GRCm39)	V227M	possibly damaging	Het
Eml4	T	G	17: 83,717,514 (GRCm39)	S29A	probably benign	Het
Eps8l3	C	A	3: 107,786,895 (GRCm39)	P24T	probably benign	Het
Fancc	A	T	13: 63,478,446 (GRCm39)		probably null	Het
Firrm	A	T	1: 163,785,120 (GRCm39)	V753D	probably benign	Het
Grid2	G	A	6: 63,885,975 (GRCm39)	A124T	probably damaging	Het
Ikbke	C	T	1: 131,204,204 (GRCm39)		probably null	Het
Kyat1	G	A	2: 30,076,662 (GRCm39)	A284V	probably benign	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lmbrd2	G	T	15: 9,175,269 (GRCm39)	L393F	probably benign	Het
Lrrc26	T	A	2: 25,180,536 (GRCm39)	L179Q	probably damaging	Het
Mlx	A	G	11: 100,979,520 (GRCm39)	D113G	possibly damaging	Het
Myod1	A	G	7: 46,026,407 (GRCm39)	K104R	probably damaging	Het
Nwd1	G	A	8: 73,429,602 (GRCm39)		probably null	Het
Or56b2j	T	G	7: 104,353,200 (GRCm39)	V142G	probably damaging	Het
Or5b118	A	G	19: 13,448,336 (GRCm39)	M1V	probably null	Het
Or6c3	A	C	10: 129,308,746 (GRCm39)	N62H	probably damaging	Het
Pacsin3	A	T	2: 91,093,126 (GRCm39)	Y206F	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,970 (GRCm39)	V255E	probably damaging	Het
Pdp1	T	C	4: 11,960,907 (GRCm39)	D468G	possibly damaging	Het
Pgr	C	T	9: 8,900,600 (GRCm39)		probably benign	Het
Prrt2	T	A	7: 126,617,899 (GRCm39)	Y345F	probably benign	Het
Rbbp8nl	T	C	2: 179,920,461 (GRCm39)	T515A	probably damaging	Het
Rc3h1	G	T	1: 160,757,823 (GRCm39)	R47L	probably damaging	Het
Rfpl4b	T	A	10: 38,697,281 (GRCm39)	I107F	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scn3a	T	C	2: 65,337,608 (GRCm39)	T630A	possibly damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slco1a5	C	A	6: 142,194,542 (GRCm39)	C367F	probably damaging	Het
Slit1	A	G	19: 41,613,959 (GRCm39)		probably null	Het
Slit2	G	A	5: 48,378,333 (GRCm39)		probably null	Het
Snrnp40	G	T	4: 130,258,958 (GRCm39)	G122V	possibly damaging	Het
Stk16	T	A	1: 75,190,248 (GRCm39)	M111K	probably damaging	Het
Tbc1d2	T	C	4: 46,616,298 (GRCm39)	I477V	probably benign	Het
Tll1	T	A	8: 64,570,974 (GRCm39)	E199D	probably damaging	Het
Trhde	A	T	10: 114,424,407 (GRCm39)	D459E	probably benign	Het
Ttn	T	C	2: 76,541,881 (GRCm39)	R25375G	possibly damaging	Het
Tubgcp2	A	T	7: 139,578,701 (GRCm39)	M757K	possibly damaging	Het
Ubap1l	T	A	9: 65,279,337 (GRCm39)	V212D	possibly damaging	Het
Ubqln5	A	G	7: 103,778,632 (GRCm39)	V64A	possibly damaging	Het
Usp47	A	G	7: 111,709,204 (GRCm39)	M1337V	probably benign	Het
Vmn1r201	T	A	13: 22,659,409 (GRCm39)	Y208N	probably damaging	Het
Xkr8	C	T	4: 132,455,368 (GRCm39)	R335H	probably damaging	Het
Zbtb49	A	T	5: 38,373,870 (GRCm39)	C25S	probably damaging	Het
Zeb2	T	A	2: 44,887,800 (GRCm39)	N404I	probably damaging	Het

Other mutations in Rsbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Rsbn1	APN	3	103,836,006 (GRCm39)	missense	probably benign	0.01
IGL00725:Rsbn1	APN	3	103,836,137 (GRCm39)	missense	probably damaging	0.96
IGL01682:Rsbn1	APN	3	103,869,696 (GRCm39)	missense	probably benign	0.03
IGL01978:Rsbn1	APN	3	103,868,816 (GRCm39)	missense	probably damaging	0.99
IGL02281:Rsbn1	APN	3	103,869,777 (GRCm39)	missense	probably damaging	0.99
IGL02615:Rsbn1	APN	3	103,861,068 (GRCm39)	missense	probably damaging	1.00
IGL02902:Rsbn1	APN	3	103,860,972 (GRCm39)	missense	possibly damaging	0.62
IGL02903:Rsbn1	APN	3	103,835,885 (GRCm39)	missense	probably damaging	1.00
IGL02927:Rsbn1	APN	3	103,869,668 (GRCm39)	missense	probably benign
IGL03007:Rsbn1	APN	3	103,836,195 (GRCm39)	missense	probably damaging	1.00
IGL03062:Rsbn1	APN	3	103,860,945 (GRCm39)	intron	probably benign
IGL03345:Rsbn1	APN	3	103,822,466 (GRCm39)	missense	possibly damaging	0.78
F2404:Rsbn1	UTSW	3	103,821,892 (GRCm39)	nonsense	probably null
R0277:Rsbn1	UTSW	3	103,821,897 (GRCm39)	missense	possibly damaging	0.66
R0815:Rsbn1	UTSW	3	103,861,469 (GRCm39)	missense	probably damaging	0.98
R1760:Rsbn1	UTSW	3	103,867,347 (GRCm39)	missense	probably damaging	1.00
R1801:Rsbn1	UTSW	3	103,822,188 (GRCm39)	missense	probably damaging	0.97
R2021:Rsbn1	UTSW	3	103,821,789 (GRCm39)	missense	probably benign
R2078:Rsbn1	UTSW	3	103,868,839 (GRCm39)	missense	probably damaging	1.00
R2330:Rsbn1	UTSW	3	103,821,816 (GRCm39)	missense	probably damaging	0.97
R3956:Rsbn1	UTSW	3	103,835,991 (GRCm39)	missense	probably damaging	0.99
R4094:Rsbn1	UTSW	3	103,835,974 (GRCm39)	missense	probably damaging	0.98
R4649:Rsbn1	UTSW	3	103,861,096 (GRCm39)	splice site	probably null
R4720:Rsbn1	UTSW	3	103,836,336 (GRCm39)	missense	possibly damaging	0.92
R5299:Rsbn1	UTSW	3	103,821,806 (GRCm39)	missense	probably benign	0.01
R5505:Rsbn1	UTSW	3	103,836,259 (GRCm39)	missense	probably damaging	1.00
R5775:Rsbn1	UTSW	3	103,869,888 (GRCm39)	missense	possibly damaging	0.80
R6509:Rsbn1	UTSW	3	103,867,348 (GRCm39)	missense	probably damaging	1.00
R6629:Rsbn1	UTSW	3	103,835,757 (GRCm39)	missense	probably damaging	1.00
R7070:Rsbn1	UTSW	3	103,836,299 (GRCm39)	missense	probably damaging	1.00
R7116:Rsbn1	UTSW	3	103,821,892 (GRCm39)	nonsense	probably null
R7623:Rsbn1	UTSW	3	103,822,326 (GRCm39)	missense	probably benign	0.00
R8021:Rsbn1	UTSW	3	103,835,898 (GRCm39)	missense	possibly damaging	0.81
R8524:Rsbn1	UTSW	3	103,835,687 (GRCm39)	nonsense	probably null
R8525:Rsbn1	UTSW	3	103,821,538 (GRCm39)	unclassified	probably benign
R8948:Rsbn1	UTSW	3	103,868,830 (GRCm39)	missense	possibly damaging	0.90
R9003:Rsbn1	UTSW	3	103,822,188 (GRCm39)	missense	probably damaging	0.97
R9502:Rsbn1	UTSW	3	103,822,146 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TCAAAACAGTGTCAGCAGTATGC -3'
(R):5'- CTAACGATACAACTCTTAGCTTTGC -3'

Sequencing Primer
(F):5'- AGTATGCAGCCTAGCCTGG -3'
(R):5'- CAACTCTTAGCTTTGCATAATCTGTG -3'

Posted On

2016-11-21