Mutagenetix > Incidental Mutation

Incidental Mutation 'R0288:Rsbn1l'

24721

Institutional Source

Beutler Lab

Gene Symbol

Rsbn1l

Ensembl Gene

ENSMUSG00000039968

Gene Name

round spermatid basic protein 1-like

Synonyms

8430412F05Rik, C330002G24Rik

MMRRC Submission

038507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R0288 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21098026-21161396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21125038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 255 (I255V)

Ref Sequence

ENSEMBL: ENSMUSP00000039482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036489] [ENSMUST00000196780] [ENSMUST00000197089]

AlphaFold

D3Z0K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000036489
AA Change: I255V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: I255V

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
low complexity region	71	109	N/A	INTRINSIC
low complexity region	136	156	N/A	INTRINSIC
low complexity region	176	194	N/A	INTRINSIC
low complexity region	229	249	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196780
AA Change: I255V

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968
AA Change: I255V

Domain	Start	End	E-Value	Type
low complexity region	52	62	N/A	INTRINSIC
low complexity region	71	109	N/A	INTRINSIC
low complexity region	136	156	N/A	INTRINSIC
low complexity region	176	194	N/A	INTRINSIC
low complexity region	229	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000197089

SMART Domains

Protein: ENSMUSP00000142461
Gene: ENSMUSG00000039968

Domain	Start	End	E-Value	Type
low complexity region	27	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197493

Meta Mutation Damage Score

0.0607

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.7%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg3	A	G	8: 95,766,568 (GRCm39)	E413G	possibly damaging	Het
Amigo2	G	T	15: 97,143,560 (GRCm39)	N287K	probably damaging	Het
Ankle2	T	A	5: 110,384,256 (GRCm39)	I260K	probably damaging	Het
Apob	C	T	12: 8,040,779 (GRCm39)	R635*	probably null	Het
Camkv	A	G	9: 107,823,555 (GRCm39)	Y153C	probably damaging	Het
Capn9	A	G	8: 125,327,230 (GRCm39)		probably benign	Het
Ces2c	A	G	8: 105,576,376 (GRCm39)	I130V	probably benign	Het
Cfap44	T	A	16: 44,236,257 (GRCm39)		probably benign	Het
Cfhr3	A	G	1: 139,525,425 (GRCm39)		noncoding transcript	Het
Chmp1a	G	T	8: 123,934,745 (GRCm39)	D70E	probably damaging	Het
Coil	G	A	11: 88,872,694 (GRCm39)	G352R	probably damaging	Het
Colq	T	C	14: 31,265,949 (GRCm39)	E188G	possibly damaging	Het
Cyfip2	A	G	11: 46,144,799 (GRCm39)	F685S	possibly damaging	Het
Cyp4f39	A	G	17: 32,711,410 (GRCm39)	N519S	probably benign	Het
Dennd1c	A	T	17: 57,383,870 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,915,960 (GRCm39)		probably null	Het
Dnmbp	T	C	19: 43,890,898 (GRCm39)	T290A	possibly damaging	Het
Dsc2	T	C	18: 20,166,177 (GRCm39)	D818G	probably damaging	Het
Gnptab	G	A	10: 88,268,967 (GRCm39)	V557I	probably benign	Het
Hdac4	A	T	1: 91,898,728 (GRCm39)	H675Q	probably damaging	Het
Kcnk3	T	C	5: 30,745,764 (GRCm39)	M35T	probably benign	Het
Kif1b	A	T	4: 149,283,795 (GRCm39)	I1290N	probably damaging	Het
Klhl14	G	A	18: 21,698,620 (GRCm39)	R398W	probably damaging	Het
Marveld1	T	C	19: 42,136,265 (GRCm39)	F60L	probably damaging	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Ndst3	A	T	3: 123,465,843 (GRCm39)	V43D	probably benign	Het
Nhsl1	A	G	10: 18,399,794 (GRCm39)	D306G	probably damaging	Het
Nlrp2	A	G	7: 5,331,544 (GRCm39)	V284A	probably benign	Het
Pcdhb15	T	C	18: 37,608,451 (GRCm39)	V561A	probably damaging	Het
Pdcl2	T	C	5: 76,460,344 (GRCm39)	I177V	possibly damaging	Het
Pkd1l3	G	A	8: 110,373,131 (GRCm39)		probably null	Het
Pla2g6	A	C	15: 79,171,106 (GRCm39)		probably benign	Het
Plekhj1	A	T	10: 80,632,444 (GRCm39)	I122N	probably damaging	Het
Pmel	T	C	10: 128,550,175 (GRCm39)	I70T	probably benign	Het
Psip1	T	C	4: 83,383,196 (GRCm39)	D273G	probably damaging	Het
Rictor	A	G	15: 6,816,021 (GRCm39)	I1098V	probably benign	Het
Rif1	T	C	2: 52,000,025 (GRCm39)	S1160P	probably damaging	Het
Slc15a5	A	G	6: 137,994,914 (GRCm39)		probably benign	Het
Slc29a1	G	A	17: 45,900,730 (GRCm39)	R111W	probably damaging	Het
Slc36a1	G	A	11: 55,109,913 (GRCm39)	A74T	probably damaging	Het
Slc5a7	A	T	17: 54,600,046 (GRCm39)	Y122*	probably null	Het
Slc6a3	G	T	13: 73,709,047 (GRCm39)	G324W	probably damaging	Het
Sltm	T	C	9: 70,486,633 (GRCm39)	S433P	probably damaging	Het
Spta1	T	C	1: 174,070,745 (GRCm39)	S2190P	probably damaging	Het
Sry	A	T	Y: 2,662,818 (GRCm39)	F281I	unknown	Het
Stk32a	T	A	18: 43,438,060 (GRCm39)		probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tbl3	G	A	17: 24,920,781 (GRCm39)	H612Y	probably damaging	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Top2a	A	G	11: 98,907,249 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,333,606 (GRCm39)		probably benign	Het
Vldlr	G	A	19: 27,218,051 (GRCm39)		probably benign	Het
Vmn1r28	G	A	6: 58,242,702 (GRCm39)	A182T	probably benign	Het
Vmn2r28	A	G	7: 5,491,020 (GRCm39)	L409P	probably damaging	Het
Vps13c	T	C	9: 67,834,648 (GRCm39)	V1659A	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zfp280d	A	T	9: 72,238,621 (GRCm39)	K646*	probably null	Het
Zfp36	A	G	7: 28,077,666 (GRCm39)	S81P	probably benign	Het
Zfp618	A	T	4: 63,051,171 (GRCm39)	T651S	possibly damaging	Het

Other mutations in Rsbn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Rsbn1l	APN	5	21,101,153 (GRCm39)	missense	probably benign	0.08
IGL01631:Rsbn1l	APN	5	21,101,570 (GRCm39)	missense	probably damaging	1.00
IGL01631:Rsbn1l	APN	5	21,101,569 (GRCm39)	missense	probably damaging	1.00
IGL02237:Rsbn1l	APN	5	21,124,604 (GRCm39)	missense	probably benign	0.39
IGL02434:Rsbn1l	APN	5	21,124,732 (GRCm39)	missense	probably damaging	0.99
IGL02458:Rsbn1l	APN	5	21,156,734 (GRCm39)	missense	probably damaging	0.99
IGL02994:Rsbn1l	APN	5	21,113,232 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Rsbn1l	UTSW	5	21,124,653 (GRCm39)	missense	probably damaging	1.00
R1429:Rsbn1l	UTSW	5	21,125,016 (GRCm39)	missense	probably damaging	1.00
R1524:Rsbn1l	UTSW	5	21,156,671 (GRCm39)	missense	probably damaging	1.00
R1713:Rsbn1l	UTSW	5	21,156,488 (GRCm39)	missense	probably benign	0.18
R1875:Rsbn1l	UTSW	5	21,156,696 (GRCm39)	missense	probably benign	0.17
R1998:Rsbn1l	UTSW	5	21,107,368 (GRCm39)	missense	probably damaging	1.00
R1999:Rsbn1l	UTSW	5	21,107,368 (GRCm39)	missense	probably damaging	1.00
R2000:Rsbn1l	UTSW	5	21,107,368 (GRCm39)	missense	probably damaging	1.00
R2504:Rsbn1l	UTSW	5	21,107,364 (GRCm39)	missense	probably damaging	1.00
R2566:Rsbn1l	UTSW	5	21,124,767 (GRCm39)	missense	probably benign	0.40
R3434:Rsbn1l	UTSW	5	21,110,928 (GRCm39)	splice site	probably benign
R3789:Rsbn1l	UTSW	5	21,101,106 (GRCm39)	missense	probably benign	0.24
R3893:Rsbn1l	UTSW	5	21,110,838 (GRCm39)	missense	probably damaging	1.00
R3924:Rsbn1l	UTSW	5	21,124,785 (GRCm39)	missense	probably damaging	1.00
R4335:Rsbn1l	UTSW	5	21,113,191 (GRCm39)	missense	probably null	0.45
R4422:Rsbn1l	UTSW	5	21,101,544 (GRCm39)	missense	probably damaging	1.00
R5131:Rsbn1l	UTSW	5	21,101,243 (GRCm39)	missense	possibly damaging	0.89
R5212:Rsbn1l	UTSW	5	21,101,212 (GRCm39)	missense	probably benign	0.03
R5739:Rsbn1l	UTSW	5	21,110,814 (GRCm39)	missense	probably damaging	1.00
R6736:Rsbn1l	UTSW	5	21,113,222 (GRCm39)	missense	probably benign	0.45
R6980:Rsbn1l	UTSW	5	21,101,482 (GRCm39)	missense	probably benign
R7252:Rsbn1l	UTSW	5	21,113,196 (GRCm39)	missense	probably damaging	1.00
R7443:Rsbn1l	UTSW	5	21,132,621 (GRCm39)	missense	possibly damaging	0.61
R7538:Rsbn1l	UTSW	5	21,101,455 (GRCm39)	missense	probably benign	0.01
R7914:Rsbn1l	UTSW	5	21,110,896 (GRCm39)	missense	probably damaging	1.00
R8396:Rsbn1l	UTSW	5	21,132,665 (GRCm39)	missense	probably benign	0.40
R8899:Rsbn1l	UTSW	5	21,101,865 (GRCm39)	missense	probably damaging	1.00
R8941:Rsbn1l	UTSW	5	21,110,841 (GRCm39)	missense	probably damaging	1.00
R9472:Rsbn1l	UTSW	5	21,113,119 (GRCm39)	missense	probably damaging	0.98
R9723:Rsbn1l	UTSW	5	21,101,464 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TGAACGCCAAAGTGTCCAACCTTC -3'
(R):5'- GCTGTCTTATTAGCAGTCCAGAGCC -3'

Sequencing Primer
(F):5'- AGTGTCCAACCTTCTAAGGTTATTC -3'
(R):5'- AGTCCAGAGCCTACTGTCTATG -3'

Posted On

2013-04-16