Mutagenetix > Incidental Mutations

Incidental Mutation 'R1543:Sobp'

171939

Institutional Source

Beutler Lab

Gene Symbol

Sobp

Ensembl Gene

ENSMUSG00000038248

Gene Name

sine oculis binding protein

Synonyms

2900009C16Rik, jc, 5330439J01Rik, Jxc1

MMRRC Submission

039582-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.737) question?

Stock #

R1543 (G1)

Quality Score

106

Status

Validated

Chromosome

Chromosomal Location

43002500-43174530 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43021724 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 622 (T622A)

Ref Sequence

ENSEMBL: ENSMUSP00000040072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040275]

Predicted Effect

probably damaging
Transcript: ENSMUST00000040275
AA Change: T622A

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: T622A

Domain	Start	End	E-Value	Type
low complexity region	125	139	N/A	INTRINSIC
internal_repeat_1	149	201	2.34e-5	PROSPERO
Pfam:SOBP	224	543	1.5e-88	PFAM
low complexity region	565	583	N/A	INTRINSIC
low complexity region	590	603	N/A	INTRINSIC
low complexity region	625	639	N/A	INTRINSIC
low complexity region	695	714	N/A	INTRINSIC
low complexity region	725	747	N/A	INTRINSIC

Meta Mutation Damage Score

0.0795

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous mutant mice exhibit open-field hyperactivity and circling behavior from weaning. Their hearing thresholds are elevated at all frequencies; the hearing impairment does not progress over time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,968,204	V206I	probably damaging	Het
2610507B11Rik	A	G	11: 78,275,174	T1422A	probably benign	Het
4933425L06Rik	A	T	13: 105,112,369	R364*	probably null	Het
Abca8b	A	C	11: 109,974,674	M319R	probably damaging	Het
Abcc6	T	C	7: 46,016,504	R231G	probably benign	Het
Acadm	A	G	3: 153,929,572	Y302H	probably damaging	Het
Acox3	C	A	5: 35,603,008	R423S	probably damaging	Het
Adam7	T	A	14: 68,521,922		probably benign	Het
Adgrb3	A	C	1: 25,488,088	M589R	probably benign	Het
Adgrl2	A	C	3: 148,859,273	F224V	probably damaging	Het
Adm2	G	C	15: 89,324,079	G74A	probably damaging	Het
Aen	T	A	7: 78,902,622	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,192,516	V22D	possibly damaging	Het
Arap2	T	A	5: 62,606,155	K1549*	probably null	Het
Arhgef11	G	A	3: 87,713,017	R430H	probably benign	Het
Asb17	T	G	3: 153,844,511	L60W	probably damaging	Het
BC035044	T	C	6: 128,890,985		probably benign	Het
Cacna2d1	A	T	5: 16,266,718	M254L	possibly damaging	Het
Celf6	T	C	9: 59,603,877		probably benign	Het
Coro2b	C	T	9: 62,425,841	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,376,194		probably benign	Het
Cyp2c67	C	A	19: 39,643,264		probably benign	Het
Dclk3	A	G	9: 111,468,054	H222R	probably benign	Het
Deaf1	A	G	7: 141,324,147	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,144,448	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,594,211	V605E	probably benign	Het
Frem2	A	T	3: 53,572,455	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,981,587	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,872,424	I304N	probably damaging	Het
Hdac7	G	A	15: 97,809,529		probably benign	Het
Hipk1	T	C	3: 103,778,164	H45R	probably benign	Het
Hyal2	T	C	9: 107,570,187	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,068,521	R479W	probably damaging	Het
Lilr4b	A	G	10: 51,481,421	T118A	probably damaging	Het
Lin7a	C	A	10: 107,412,069	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,895,390	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,500,730	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,720,018	K527E	probably benign	Het
Map10	C	T	8: 125,670,872	P335S	probably benign	Het
Mast3	A	G	8: 70,792,311	S2P	possibly damaging	Het
Mbtps1	A	G	8: 119,542,069		probably benign	Het
Mms22l	T	A	4: 24,591,084	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,812,372	A244D	possibly damaging	Het
Olfr1294	A	G	2: 111,537,797	V164A	probably benign	Het
Olfr3	A	T	2: 36,813,057	F12I	probably damaging	Het
Olfr358	C	A	2: 37,005,127	L162F	probably damaging	Het
Olfr592	T	A	7: 103,187,214	F204L	probably benign	Het
Olfr876	T	A	9: 37,803,947	I12N	possibly damaging	Het
Pcx	A	T	19: 4,602,223	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,683		probably null	Het
Pkd1l1	A	G	11: 8,901,200	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,740,882	L560P	probably damaging	Het
Psmd14	A	T	2: 61,785,530	M248L	probably benign	Het
Ryr1	T	G	7: 29,083,537	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,150,429	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,184,857	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,560,800	V236A	probably benign	Het
Spata31d1a	G	T	13: 59,702,242	R691S	probably benign	Het
Speg	A	G	1: 75,421,951	E2014G	probably damaging	Het
Steap4	A	G	5: 7,975,902		probably benign	Het
Tas2r144	G	A	6: 42,215,603	M92I	probably benign	Het
Tbc1d5	T	C	17: 50,935,532	Q179R	probably benign	Het
Tcf25	T	C	8: 123,388,587	Y188H	probably benign	Het
Tmem2	G	T	19: 21,812,573	A668S	probably benign	Het
Tmem200a	G	A	10: 26,078,620		probably benign	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Tssk5	T	C	15: 76,372,209	T337A	probably benign	Het
Ttc23	T	C	7: 67,678,995	V228A	probably benign	Het
Tulp1	A	T	17: 28,362,671		probably benign	Het
Uqcc3	A	G	19: 8,880,753	F25L	probably damaging	Het
Vmn2r1	G	A	3: 64,089,573	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,522,374	E508K	probably benign	Het
Wdfy3	C	A	5: 101,844,081	V3451L	probably benign	Het
Wdr19	G	A	5: 65,224,690	V418I	probably benign	Het
Wdr60	T	C	12: 116,231,784		probably benign	Het
Xirp2	C	T	2: 67,508,039	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,991,676	V639A	probably benign	Het

Other mutations in Sobp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Sobp	APN	10	43022878	missense	probably damaging	1.00
IGL02112:Sobp	APN	10	43021877	missense	probably benign	0.07
R0071:Sobp	UTSW	10	43157997	missense	probably damaging	1.00
R0071:Sobp	UTSW	10	43157997	missense	probably damaging	1.00
R0602:Sobp	UTSW	10	43022389	missense	probably damaging	1.00
R0792:Sobp	UTSW	10	43022693	missense	probably damaging	0.99
R0847:Sobp	UTSW	10	43022419	missense	probably damaging	1.00
R0948:Sobp	UTSW	10	43022209	missense	probably damaging	1.00
R1298:Sobp	UTSW	10	43022335	missense	probably damaging	1.00
R1484:Sobp	UTSW	10	43160831	missense	probably damaging	1.00
R1486:Sobp	UTSW	10	43022522	missense	probably benign	0.42
R1571:Sobp	UTSW	10	43157946	missense	possibly damaging	0.93
R1807:Sobp	UTSW	10	43160826	missense	possibly damaging	0.79
R2198:Sobp	UTSW	10	43022524	missense	possibly damaging	0.81
R2316:Sobp	UTSW	10	43158038	missense	possibly damaging	0.75
R4165:Sobp	UTSW	10	43021648	missense	probably damaging	1.00
R4235:Sobp	UTSW	10	43022900	missense	probably damaging	1.00
R4378:Sobp	UTSW	10	43021304	missense	probably damaging	0.97
R4587:Sobp	UTSW	10	43158024	missense	probably damaging	1.00
R5108:Sobp	UTSW	10	43160819	missense	probably damaging	1.00
R6165:Sobp	UTSW	10	43022603	missense	probably damaging	1.00
R7069:Sobp	UTSW	10	43021440	missense	probably benign	0.37
R7346:Sobp	UTSW	10	43022835	missense	probably damaging	1.00
R7419:Sobp	UTSW	10	43021808	missense	probably benign	0.00
R7423:Sobp	UTSW	10	43022568	nonsense	probably null
R7475:Sobp	UTSW	10	43021834	missense	probably damaging	0.98
R7994:Sobp	UTSW	10	43021167	nonsense	probably null
R8472:Sobp	UTSW	10	43022396	missense	probably damaging	0.99
R8558:Sobp	UTSW	10	43127892	missense	probably damaging	1.00
R8770:Sobp	UTSW	10	43160792	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGCAGTTGTTCTCCTTGACC -3'
(R):5'- CAACGGATTTTCCAGCAACGGG -3'

Sequencing Primer
(F):5'- TCACGATGACGTTGCAGG -3'
(R):5'- TTTCCAGCAACGGGGAGAG -3'

Posted On

2014-04-13