Mutagenetix > Incidental Mutation

Incidental Mutation 'R4094:Rsbn1'

317784

Institutional Source

Beutler Lab

Gene Symbol

Rsbn1

Ensembl Gene

ENSMUSG00000044098

Gene Name

rosbin, round spermatid basic protein 1

Synonyms

C230004D03Rik, Rsbp

MMRRC Submission

041628-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4094 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103821436-103873952 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103835974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 337 (F337L)

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: F337L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058934
Gene: ENSMUSG00000044098
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069246
Gene: ENSMUSG00000044098
AA Change: F337L

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 damaging
Transcript: ENSMUST00000106806
AA Change: F290L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102418
Gene: ENSMUSG00000044098
AA Change: F290L

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

unknown
Transcript: ENSMUST00000151927
AA Change: F298L

SMART Domains

Protein: ENSMUSP00000115693
Gene: ENSMUSG00000044098
AA Change: F298L

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

unknown
Transcript: ENSMUST00000185731
AA Change: F13L

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,071,192 (GRCm39)	C1500R	probably damaging	Het
Amz1	A	T	5: 140,737,921 (GRCm39)	M93L	probably damaging	Het
Asb18	A	T	1: 89,942,147 (GRCm39)	N51K	probably damaging	Het
Bcl11b	G	T	12: 107,883,094 (GRCm39)	P335Q	probably damaging	Het
Bsn	A	C	9: 107,991,069 (GRCm39)	V1561G	probably damaging	Het
Cadm2	A	T	16: 66,679,685 (GRCm39)	N49K	probably damaging	Het
Cct8	T	G	16: 87,284,516 (GRCm39)	I283L	possibly damaging	Het
Cdc25b	A	G	2: 131,031,037 (GRCm39)	M121V	probably benign	Het
Cpne4	A	G	9: 104,563,734 (GRCm39)	D37G	probably damaging	Het
Cym	A	G	3: 107,121,582 (GRCm39)	S237P	probably benign	Het
Dhx35	T	A	2: 158,684,276 (GRCm39)	I517N	probably damaging	Het
Ehf	T	C	2: 103,121,095 (GRCm39)		probably benign	Het
Erp29	A	G	5: 121,590,345 (GRCm39)		probably benign	Het
Fgd6	C	A	10: 93,879,296 (GRCm39)	P50Q	probably damaging	Het
Fhip1b	T	C	7: 105,037,425 (GRCm39)	D386G	probably damaging	Het
Foxn3	G	T	12: 99,162,700 (GRCm39)	D400E	probably damaging	Het
Frmd4a	A	G	2: 4,615,843 (GRCm39)	Y1031C	probably damaging	Het
Gna13	T	A	11: 109,287,242 (GRCm39)	I355N	probably damaging	Het
Hgs	T	A	11: 120,359,859 (GRCm39)	L21*	probably null	Het
Htr2a	G	A	14: 74,943,789 (GRCm39)	M456I	probably benign	Het
Itga2	T	C	13: 115,007,161 (GRCm39)	D389G	probably benign	Het
Kdm1b	T	C	13: 47,216,496 (GRCm39)	C289R	probably damaging	Het
Kdm4c	T	A	4: 74,229,915 (GRCm39)	D237E	probably benign	Het
Lilrb4b	A	T	10: 51,357,506 (GRCm39)	E114V	probably damaging	Het
Loxl1	G	A	9: 58,219,739 (GRCm39)	T144I	probably damaging	Het
Macf1	C	T	4: 123,353,062 (GRCm39)	R1784Q	probably benign	Het
Maml2	G	A	9: 13,531,449 (GRCm39)	S221N	probably benign	Het
Map3k1	A	G	13: 111,892,696 (GRCm39)	M853T	possibly damaging	Het
Micu3	T	G	8: 40,788,929 (GRCm39)	S147A	probably null	Het
Nccrp1	T	C	7: 28,243,651 (GRCm39)	Y261C	possibly damaging	Het
Or51aa5	T	A	7: 103,167,244 (GRCm39)	I116F	possibly damaging	Het
Or5m5	A	G	2: 85,814,562 (GRCm39)	Y126C	probably damaging	Het
Or8k18	T	C	2: 86,085,674 (GRCm39)	D121G	probably damaging	Het
Or8s10	T	C	15: 98,335,563 (GRCm39)	L71P	probably damaging	Het
Pclo	C	A	5: 14,905,659 (GRCm39)	T4963N	unknown	Het
Pdxk	T	C	10: 78,300,644 (GRCm39)	H13R	probably damaging	Het
Plcg1	A	G	2: 160,589,761 (GRCm39)	E95G	probably damaging	Het
Ppargc1a	T	C	5: 51,647,406 (GRCm39)	N276S	possibly damaging	Het
Prr12	A	G	7: 44,697,371 (GRCm39)	L848P	unknown	Het
Ptcd2	A	G	13: 99,468,957 (GRCm39)	I202T	probably damaging	Het
Rab27a	A	C	9: 72,982,826 (GRCm39)	I44L	probably damaging	Het
Rbfox2	A	T	15: 77,016,925 (GRCm39)	S82T	probably damaging	Het
Samd8	T	C	14: 21,843,113 (GRCm39)	I414T	probably damaging	Het
Sema3e	A	G	5: 14,283,704 (GRCm39)	I478V	probably benign	Het
Sfswap	A	G	5: 129,637,805 (GRCm39)	S821G	possibly damaging	Het
Slc2a3	A	T	6: 122,712,527 (GRCm39)	I239N	probably benign	Het
Spc25	G	A	2: 69,032,975 (GRCm39)	S50L	probably damaging	Het
St8sia4	A	T	1: 95,555,411 (GRCm39)	S206R	possibly damaging	Het
Syngr3	G	A	17: 24,908,817 (GRCm39)		probably benign	Het
Tigd4	A	G	3: 84,501,947 (GRCm39)	D288G	probably damaging	Het
Trim34b	A	G	7: 103,983,795 (GRCm39)	M251V	probably benign	Het
Ttll5	A	T	12: 86,003,376 (GRCm39)	R214*	probably null	Het
Ttn	T	C	2: 76,730,860 (GRCm39)		probably benign	Het
Vmp1	A	G	11: 86,534,406 (GRCm39)	I167T	probably benign	Het
Zfp64	T	C	2: 168,767,855 (GRCm39)	T586A	probably benign	Het
Zfp943	T	A	17: 22,211,963 (GRCm39)	C350S	probably damaging	Het
Zscan4f	A	T	7: 11,135,185 (GRCm39)	N197I	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
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
R5699:Rsbn1	UTSW	3	103,869,801 (GRCm39)	missense	probably benign	0.02
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'- TACAAACCGTCTGTGCTGG -3'
(R):5'- CTAACGCATAGTACGCAGCG -3'

Sequencing Primer
(F):5'- TCTGTGCTGGCCTGACC -3'
(R):5'- AACGCATAGTACGCAGCGTTTTTC -3'

Posted On

2015-05-15