Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02434:Rsbn1l'

293204

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsbn1l

Ensembl Gene

ENSMUSG00000039968

Gene Name

round spermatid basic protein 1-like

Synonyms

C330002G24Rik, 8430412F05Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

IGL02434

Quality Score

Status

Chromosome

Chromosomal Location

20893028-20956398 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20919734 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 357 (R357G)

Ref Sequence

ENSEMBL: ENSMUSP00000142789 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036489
AA Change: R357G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: R357G

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 damaging
Transcript: ENSMUST00000196780
AA Change: R357G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968
AA Change: R357G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	C	A	15: 73,121,081	G525V	probably damaging	Het
Agxt2	T	C	15: 10,358,600	S2P	possibly damaging	Het
Atg2b	C	T	12: 105,639,207	V339I	probably benign	Het
Btc	T	A	5: 91,362,327	I136F	probably damaging	Het
Cemip	A	T	7: 83,955,284	M850K	probably damaging	Het
Cfap54	T	A	10: 93,066,754	T179S	probably benign	Het
Chd7	T	C	4: 8,752,145	L214P	probably benign	Het
Garnl3	T	A	2: 33,054,205	N114I	probably damaging	Het
Gm10010	G	T	6: 128,200,470		noncoding transcript	Het
Gstcd	A	G	3: 132,996,202		probably benign	Het
Htr2b	A	G	1: 86,110,770	V38A	probably benign	Het
Hyal4	G	A	6: 24,763,858	W339*	probably null	Het
Ifnb1	A	G	4: 88,522,518	V86A	probably damaging	Het
Itpr1	A	G	6: 108,489,922		probably null	Het
Jag1	T	C	2: 137,087,155	S794G	probably benign	Het
Kdm5c	T	A	X: 152,233,562	M1K	probably null	Het
Lct	A	G	1: 128,303,790	V774A	probably damaging	Het
Man2a2	G	A	7: 80,359,640	A822V	probably damaging	Het
Med14	A	T	X: 12,745,824	D371E	possibly damaging	Het
Nrcam	A	G	12: 44,590,243		probably benign	Het
Olfr116	T	A	17: 37,624,576	N20Y	possibly damaging	Het
Olfr670	A	T	7: 104,960,072	M220K	probably benign	Het
Olfr670	A	T	7: 104,960,074	Y219*	probably null	Het
Pitpnm1	C	T	19: 4,103,377	R178W	probably benign	Het
Prkcg	A	G	7: 3,318,890	I324V	probably benign	Het
Prpmp5	T	A	6: 132,312,376	R162W	unknown	Het
Prr30	A	T	14: 101,198,368	C253S	possibly damaging	Het
Ptgis	A	T	2: 167,240,342		probably null	Het
Rab11fip3	C	T	17: 26,068,835	A115T	possibly damaging	Het
Reps2	C	T	X: 162,526,257		probably null	Het
Rev3l	A	G	10: 39,822,591	D1028G	probably damaging	Het
Scn5a	A	G	9: 119,533,793	L587P	possibly damaging	Het
Tanc2	C	T	11: 105,780,042	T155I	probably benign	Het
Tfb2m	A	G	1: 179,532,135		probably benign	Het
Tfpi	A	G	2: 84,452,548		probably benign	Het
Tg	T	C	15: 66,764,342	S593P	probably damaging	Het
Unc13c	T	C	9: 73,932,628	S314G	probably benign	Het

Other mutations in Rsbn1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00793:Rsbn1l	APN	5	20896155	missense	probably benign	0.08
IGL01631:Rsbn1l	APN	5	20896571	missense	probably damaging	1.00
IGL01631:Rsbn1l	APN	5	20896572	missense	probably damaging	1.00
IGL02237:Rsbn1l	APN	5	20919606	missense	probably benign	0.39
IGL02458:Rsbn1l	APN	5	20951736	missense	probably damaging	0.99
IGL02994:Rsbn1l	APN	5	20908234	missense	probably damaging	1.00
PIT4280001:Rsbn1l	UTSW	5	20919655	missense	probably damaging	1.00
R0288:Rsbn1l	UTSW	5	20920040	missense	probably damaging	0.97
R1429:Rsbn1l	UTSW	5	20920018	missense	probably damaging	1.00
R1524:Rsbn1l	UTSW	5	20951673	missense	probably damaging	1.00
R1713:Rsbn1l	UTSW	5	20951490	missense	probably benign	0.18
R1875:Rsbn1l	UTSW	5	20951698	missense	probably benign	0.17
R1998:Rsbn1l	UTSW	5	20902370	missense	probably damaging	1.00
R1999:Rsbn1l	UTSW	5	20902370	missense	probably damaging	1.00
R2000:Rsbn1l	UTSW	5	20902370	missense	probably damaging	1.00
R2504:Rsbn1l	UTSW	5	20902366	missense	probably damaging	1.00
R2566:Rsbn1l	UTSW	5	20919769	missense	probably benign	0.40
R3434:Rsbn1l	UTSW	5	20905930	splice site	probably benign
R3789:Rsbn1l	UTSW	5	20896108	missense	probably benign	0.24
R3893:Rsbn1l	UTSW	5	20905840	missense	probably damaging	1.00
R3924:Rsbn1l	UTSW	5	20919787	missense	probably damaging	1.00
R4335:Rsbn1l	UTSW	5	20908193	missense	probably null	0.45
R4422:Rsbn1l	UTSW	5	20896546	missense	probably damaging	1.00
R5131:Rsbn1l	UTSW	5	20896245	missense	possibly damaging	0.89
R5212:Rsbn1l	UTSW	5	20896214	missense	probably benign	0.03
R5739:Rsbn1l	UTSW	5	20905816	missense	probably damaging	1.00
R6736:Rsbn1l	UTSW	5	20908224	missense	probably benign	0.45
R6980:Rsbn1l	UTSW	5	20896484	missense	probably benign
R7252:Rsbn1l	UTSW	5	20908198	missense	probably damaging	1.00
R7443:Rsbn1l	UTSW	5	20927623	missense	possibly damaging	0.61
R7538:Rsbn1l	UTSW	5	20896457	missense	probably benign	0.01
R7914:Rsbn1l	UTSW	5	20905898	missense	probably damaging	1.00
R8396:Rsbn1l	UTSW	5	20927667	missense	probably benign	0.40

Posted On

2015-04-16