Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Srbd1'

283640

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srbd1

Ensembl Gene

ENSMUSG00000024135

Gene Name

S1 RNA binding domain 1

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

85984665-86145175 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86109231 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 500 (F500L)

Ref Sequence

ENSEMBL: ENSMUSP00000092810 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095187]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000095187
AA Change: F500L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000092810
Gene: ENSMUSG00000024135
AA Change: F500L

Domain	Start	End	E-Value	Type
low complexity region	20	33	N/A	INTRINSIC
low complexity region	104	128	N/A	INTRINSIC
Pfam:Tex_N	213	403	2.8e-43	PFAM
YqgFc	532	631	4.1e-32	SMART
Pfam:HHH_7	668	764	1.6e-6	PFAM
Pfam:HHH_3	698	762	4.2e-25	PFAM
S1	903	978	7e-15	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	G	5: 65,988,468	F100S	unknown	Het
Abca3	A	G	17: 24,377,740	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,054,810		probably null	Het
Adam21	G	A	12: 81,559,209	T593I	possibly damaging	Het
Adipor1	T	A	1: 134,425,960	M161K	probably benign	Het
Agrp	A	T	8: 105,567,189	N48K	probably benign	Het
Asprv1	A	T	6: 86,628,918	M249L	probably damaging	Het
Begain	A	G	12: 109,033,352	Y703H	probably damaging	Het
Bspry	T	A	4: 62,495,989		probably benign	Het
Cct8l1	T	G	5: 25,516,838	S184A	probably benign	Het
Cdk13	C	T	13: 17,772,527	V549I	probably benign	Het
Cdyl2	C	T	8: 116,579,286	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,603,525	S205P	probably damaging	Het
Cltc	G	A	11: 86,704,985	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,704,986	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,793	F62L	probably damaging	Het
Dlec1	T	A	9: 119,143,627	C1473S	probably benign	Het
Dmbt1	T	A	7: 131,093,256		probably benign	Het
Dnase1	G	A	16: 4,039,032	V176I	probably benign	Het
Dusp1	G	T	17: 26,507,058	Y220*	probably null	Het
Enpp3	A	C	10: 24,791,983		probably benign	Het
Exosc10	T	C	4: 148,565,298	L395P	probably damaging	Het
Fn1	T	C	1: 71,638,534	K533R	probably damaging	Het
Gcm2	T	A	13: 41,104,649	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,095,147		probably benign	Het
Ifrd1	A	G	12: 40,214,093	V101A	probably benign	Het
Iqsec1	G	T	6: 90,676,877	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,526,813	M254L	probably benign	Het
Krit1	T	C	5: 3,809,733		probably benign	Het
Letm1	T	C	5: 33,745,047	K633E	probably benign	Het
Mfsd1	A	G	3: 67,596,595	I307V	probably benign	Het
Mtrr	T	C	13: 68,564,357	T637A	probably benign	Het
Naxe	C	A	3: 88,056,998	D212Y	probably damaging	Het
Nlk	A	T	11: 78,586,936	V327D	probably damaging	Het
Olfr1131	A	T	2: 87,629,371	I187F	probably benign	Het
Olfr38	A	G	6: 42,762,946	K298R	probably null	Het
Pdzd8	C	T	19: 59,300,628	G780D	probably damaging	Het
Prune1	T	C	3: 95,259,237		probably benign	Het
Qser1	A	T	2: 104,788,261	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,979,467	Y193H	probably benign	Het
Reln	A	G	5: 21,909,958	Y3119H	probably damaging	Het
Scel	C	T	14: 103,564,821	A219V	probably benign	Het
Skint11	A	T	4: 114,244,636	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,818,128	A696V	probably damaging	Het
Slc5a5	C	A	8: 70,886,120	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,527,863		probably null	Het
Slc9a3	A	G	13: 74,163,114	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,634,545		probably benign	Het
Smc5	A	G	19: 23,231,859	V647A	probably damaging	Het
Snph	T	C	2: 151,594,343	N222D	possibly damaging	Het
Stxbp6	T	C	12: 44,902,023	D101G	probably damaging	Het
Taar7b	A	G	10: 23,999,981	I15V	probably benign	Het
Tdrd12	G	T	7: 35,501,401	N338K	probably damaging	Het
Tmem214	G	A	5: 30,872,746	A296T	probably benign	Het
Tmem219	A	T	7: 126,896,816	D128E	probably benign	Het
Togaram2	A	G	17: 71,685,171	T3A	possibly damaging	Het
Ttn	C	T	2: 76,894,283		probably benign	Het
Uchl1	C	A	5: 66,677,039	C47*	probably null	Het
Unc79	T	G	12: 103,011,283	S182A	probably benign	Het
Vmn2r1	A	G	3: 64,081,717	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,843,636	L620F	probably damaging	Het
Vps54	T	C	11: 21,306,947	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250	V126G	possibly damaging	Het
Zmym2	A	G	14: 56,943,351	T907A	probably benign	Het

Other mutations in Srbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Srbd1	APN	17	86115209	missense	probably damaging	1.00
IGL00988:Srbd1	APN	17	86130270	missense	probably damaging	0.96
IGL01111:Srbd1	APN	17	86098533	missense	probably benign	0.15
IGL02233:Srbd1	APN	17	86098622	splice site	probably null
IGL02307:Srbd1	APN	17	86126188	missense	probably damaging	1.00
IGL02392:Srbd1	APN	17	85988373	missense	probably benign	0.34
IGL02831:Srbd1	APN	17	86003871	missense	probably damaging	1.00
IGL03299:Srbd1	APN	17	86120659	missense	possibly damaging	0.95
PIT4494001:Srbd1	UTSW	17	86142359	critical splice donor site	probably null
PIT4677001:Srbd1	UTSW	17	86115212	nonsense	probably null
R0233:Srbd1	UTSW	17	86057745	missense	probably damaging	1.00
R0233:Srbd1	UTSW	17	86057745	missense	probably damaging	1.00
R0464:Srbd1	UTSW	17	86120002	missense	probably damaging	1.00
R0692:Srbd1	UTSW	17	86136460	missense	probably benign	0.25
R0771:Srbd1	UTSW	17	86130254	missense	probably benign	0.09
R1074:Srbd1	UTSW	17	86003952	missense	probably damaging	1.00
R1173:Srbd1	UTSW	17	86098512	missense	probably null	1.00
R1446:Srbd1	UTSW	17	86139152	missense	probably benign	0.44
R1587:Srbd1	UTSW	17	85985437	missense	probably damaging	1.00
R1780:Srbd1	UTSW	17	86057685	missense	probably damaging	1.00
R1865:Srbd1	UTSW	17	86115304	splice site	probably benign
R1933:Srbd1	UTSW	17	86102893	missense	probably damaging	1.00
R1934:Srbd1	UTSW	17	86102893	missense	probably damaging	1.00
R2002:Srbd1	UTSW	17	86142400	missense	probably benign
R2228:Srbd1	UTSW	17	85985223	missense	probably damaging	1.00
R3160:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3162:Srbd1	UTSW	17	86130215	missense	probably benign	0.03
R3439:Srbd1	UTSW	17	86057759	missense	probably benign	0.01
R3611:Srbd1	UTSW	17	86102927	missense	probably benign	0.03
R4255:Srbd1	UTSW	17	86102922	missense	possibly damaging	0.80
R4300:Srbd1	UTSW	17	85985204	missense	probably damaging	0.98
R4319:Srbd1	UTSW	17	86051150	missense	probably damaging	1.00
R4619:Srbd1	UTSW	17	86109265	missense	probably benign	0.30
R4620:Srbd1	UTSW	17	86109265	missense	probably benign	0.30
R4629:Srbd1	UTSW	17	86120672	missense	probably damaging	0.99
R5379:Srbd1	UTSW	17	86001536	missense	possibly damaging	0.88
R5469:Srbd1	UTSW	17	86119942	missense	possibly damaging	0.77
R5587:Srbd1	UTSW	17	86127801	missense	probably damaging	0.99
R5726:Srbd1	UTSW	17	86120729	missense	possibly damaging	0.89
R6166:Srbd1	UTSW	17	86099268	missense	probably damaging	1.00
R6237:Srbd1	UTSW	17	85985295	missense	probably damaging	0.99
R6696:Srbd1	UTSW	17	86139191	missense	possibly damaging	0.46
R6971:Srbd1	UTSW	17	86099290	missense	possibly damaging	0.79
R6986:Srbd1	UTSW	17	85985222	missense	probably damaging	1.00
R7018:Srbd1	UTSW	17	86136415	missense	possibly damaging	0.93
R7082:Srbd1	UTSW	17	86057732	missense	probably damaging	1.00
R7209:Srbd1	UTSW	17	86001520	missense	probably damaging	1.00
R7340:Srbd1	UTSW	17	86136354	missense	probably benign	0.02
R7417:Srbd1	UTSW	17	86136321	missense	probably benign
R7467:Srbd1	UTSW	17	86099274	missense	probably damaging	0.96
R7833:Srbd1	UTSW	17	85985454	missense	possibly damaging	0.63
R8720:Srbd1	UTSW	17	86051143	missense	probably damaging	1.00
R8839:Srbd1	UTSW	17	85988421	missense	probably benign
R8899:Srbd1	UTSW	17	85985457	missense
R8905:Srbd1	UTSW	17	86001462	missense	probably benign	0.00
R9051:Srbd1	UTSW	17	86120687	missense	possibly damaging	0.70
R9402:Srbd1	UTSW	17	86099277	missense	probably benign	0.26
R9701:Srbd1	UTSW	17	86126131	missense	probably damaging	1.00
R9729:Srbd1	UTSW	17	86130122	missense	probably benign
R9733:Srbd1	UTSW	17	86115283	missense	probably damaging	0.99

Posted On

2015-04-16