Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Rsbn1l'

294510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsbn1l

Ensembl Gene

ENSMUSG00000039968

Gene Name

round spermatid basic protein 1-like

Synonyms

8430412F05Rik, C330002G24Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

21098026-21161396 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21156734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 17 (E17G)

Ref Sequence

ENSEMBL: ENSMUSP00000142789 (fasta)

Gene Model

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

AlphaFold

D3Z0K6

Predicted Effect

probably damaging
Transcript: ENSMUST00000036489
AA Change: E17G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039482
Gene: ENSMUSG00000039968
AA Change: E17G

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

noncoding transcript
Transcript: ENSMUST00000190567

Predicted Effect

probably damaging
Transcript: ENSMUST00000196780
AA Change: E17G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142789
Gene: ENSMUSG00000039968
AA Change: E17G

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tmx2	A	T	2: 84,503,588 (GRCm39)		probably benign	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably 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
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
R0288:Rsbn1l	UTSW	5	21,125,038 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2015-04-16