Mutagenetix > Incidental Mutation

Incidental Mutation 'R4235:Sobp'

321077

Institutional Source

Beutler Lab

Gene Symbol

Sobp

Ensembl Gene

ENSMUSG00000038248

Gene Name

sine oculis binding protein

Synonyms

5330439J01Rik, 2900009C16Rik, jc, Jxc1

MMRRC Submission

041052-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.682) question?

Stock #

R4235 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

42878496-43050526 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 42898896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 230 (H230Y)

Ref Sequence

ENSEMBL: ENSMUSP00000040072 (fasta)

Gene Model

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

AlphaFold

Q0P5V2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040275
AA Change: H230Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000040072
Gene: ENSMUSG00000038248
AA Change: H230Y

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

0.2308

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

97% (68/70)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930567H17Rik	C	T	X: 69,438,135 (GRCm39)	A53T	probably benign	Het
5730596B20Rik	G	T	6: 52,155,941 (GRCm39)		probably benign	Het
Akap6	T	A	12: 53,186,454 (GRCm39)	N1289K	probably damaging	Het
Arhgap21	A	G	2: 20,891,948 (GRCm39)	V161A	probably damaging	Het
Arhgef18	T	C	8: 3,500,317 (GRCm39)	I541T	possibly damaging	Het
Atp7b	A	G	8: 22,501,039 (GRCm39)	Y955H	possibly damaging	Het
Bnc2	A	G	4: 84,211,751 (GRCm39)	V231A	probably damaging	Het
Bod1l	A	G	5: 41,978,798 (GRCm39)	S839P	probably damaging	Het
Casp8	T	A	1: 58,872,857 (GRCm39)	H264Q	possibly damaging	Het
Cc2d1b	A	T	4: 108,482,549 (GRCm39)		probably benign	Het
Cpne6	A	T	14: 55,751,057 (GRCm39)		probably benign	Het
Ddx1	C	T	12: 13,273,858 (GRCm39)	V590I	possibly damaging	Het
Dgkd	T	A	1: 87,859,704 (GRCm39)	L774*	probably null	Het
Fbxl2	T	A	9: 113,818,231 (GRCm39)	N205I	probably benign	Het
Fcgbpl1	T	A	7: 27,856,073 (GRCm39)	D1953E	probably damaging	Het
Fkbp15	A	T	4: 62,254,693 (GRCm39)	I269K	probably benign	Het
Gm26678	T	C	3: 54,540,504 (GRCm39)		noncoding transcript	Het
Has1	G	T	17: 18,070,298 (GRCm39)	R208S	possibly damaging	Het
Hecw1	C	G	13: 14,491,724 (GRCm39)	A423P	probably benign	Het
Hspa12b	T	C	2: 130,980,932 (GRCm39)	V162A	probably benign	Het
Ifi208	T	G	1: 173,510,477 (GRCm39)	S211A	probably benign	Het
Ighv6-3	T	C	12: 114,355,494 (GRCm39)	E65G	probably damaging	Het
Igkv9-120	A	T	6: 68,027,317 (GRCm39)	D77V	probably benign	Het
Impg1	A	G	9: 80,252,611 (GRCm39)	L523P	probably damaging	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kdm2a	A	G	19: 4,372,549 (GRCm39)	I932T	probably damaging	Het
Krt17	T	C	11: 100,148,694 (GRCm39)	T279A	possibly damaging	Het
Lamp1	T	C	8: 13,217,192 (GRCm39)	V67A	possibly damaging	Het
Limk1	T	C	5: 134,699,332 (GRCm39)	I142V	probably benign	Het
Mamdc2	T	C	19: 23,351,381 (GRCm39)	N182D	possibly damaging	Het
Mcpt1	G	A	14: 56,256,017 (GRCm39)		probably null	Het
Med12l	T	G	3: 59,164,644 (GRCm39)		probably null	Het
Mfsd10	G	T	5: 34,792,969 (GRCm39)	T44N	probably damaging	Het
Mrps27	T	C	13: 99,541,549 (GRCm39)	S218P	probably damaging	Het
Mrps30	T	C	13: 118,523,376 (GRCm39)	D132G	probably damaging	Het
Neil2	A	C	14: 63,429,290 (GRCm39)	M1R	probably null	Het
Nelfcd	T	C	2: 174,268,841 (GRCm39)	F587L	probably damaging	Het
Nfil3	T	C	13: 53,122,835 (GRCm39)	D23G	probably benign	Het
Nit2	T	C	16: 56,977,523 (GRCm39)	K169R	probably benign	Het
Nxt1	T	C	2: 148,517,267 (GRCm39)	S3P	probably benign	Het
Ogt	A	G	X: 100,711,131 (GRCm39)	N434D	probably damaging	Het
Or56a3	T	A	7: 104,734,994 (GRCm39)	S24T	possibly damaging	Het
Pcdhga5	A	G	18: 37,829,001 (GRCm39)	D483G	possibly damaging	Het
Pramel25	G	C	4: 143,521,344 (GRCm39)	C320S	probably damaging	Het
Ralgapa1	C	T	12: 55,687,429 (GRCm39)	R2019Q	probably damaging	Het
Rsl1	T	C	13: 67,325,226 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,916,600 (GRCm39)	E2096G	probably damaging	Het
Tie1	G	T	4: 118,335,602 (GRCm39)	S797*	probably null	Het
Tmem266	T	C	9: 55,325,391 (GRCm39)	I186T	probably damaging	Het
Tmem38b	T	C	4: 53,840,710 (GRCm39)	C66R	probably damaging	Het
Tnfaip6	T	C	2: 51,940,876 (GRCm39)	F139S	probably damaging	Het
Tnrc6a	T	C	7: 122,770,903 (GRCm39)	S898P	probably benign	Het
Trim24	A	G	6: 37,941,675 (GRCm39)	D911G	probably damaging	Het
Tyw5	T	C	1: 57,427,647 (GRCm39)		probably benign	Het
Ubr3	C	T	2: 69,846,729 (GRCm39)	Q1651*	probably null	Het
Unc13c	T	A	9: 73,438,234 (GRCm39)	I1943F	possibly damaging	Het
Usp47	T	A	7: 111,709,255 (GRCm39)	S1334T	probably damaging	Het
Vmn1r215	T	A	13: 23,260,101 (GRCm39)	V47E	probably benign	Het
Vmn1r224	T	A	17: 20,639,624 (GRCm39)	M67K	possibly damaging	Het
Wdfy3	T	A	5: 102,070,500 (GRCm39)		probably null	Het
Zfc3h1	T	C	10: 115,254,704 (GRCm39)	Y1433H	probably benign	Het

Other mutations in Sobp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01016:Sobp	APN	10	42,898,874 (GRCm39)	missense	probably damaging	1.00
IGL02112:Sobp	APN	10	42,897,873 (GRCm39)	missense	probably benign	0.07
R0071:Sobp	UTSW	10	43,033,993 (GRCm39)	missense	probably damaging	1.00
R0071:Sobp	UTSW	10	43,033,993 (GRCm39)	missense	probably damaging	1.00
R0602:Sobp	UTSW	10	42,898,385 (GRCm39)	missense	probably damaging	1.00
R0792:Sobp	UTSW	10	42,898,689 (GRCm39)	missense	probably damaging	0.99
R0847:Sobp	UTSW	10	42,898,415 (GRCm39)	missense	probably damaging	1.00
R0948:Sobp	UTSW	10	42,898,205 (GRCm39)	missense	probably damaging	1.00
R1298:Sobp	UTSW	10	42,898,331 (GRCm39)	missense	probably damaging	1.00
R1484:Sobp	UTSW	10	43,036,827 (GRCm39)	missense	probably damaging	1.00
R1486:Sobp	UTSW	10	42,898,518 (GRCm39)	missense	probably benign	0.42
R1543:Sobp	UTSW	10	42,897,720 (GRCm39)	missense	probably damaging	0.97
R1571:Sobp	UTSW	10	43,033,942 (GRCm39)	missense	possibly damaging	0.93
R1807:Sobp	UTSW	10	43,036,822 (GRCm39)	missense	possibly damaging	0.79
R2198:Sobp	UTSW	10	42,898,520 (GRCm39)	missense	possibly damaging	0.81
R2316:Sobp	UTSW	10	43,034,034 (GRCm39)	missense	possibly damaging	0.75
R4165:Sobp	UTSW	10	42,897,644 (GRCm39)	missense	probably damaging	1.00
R4378:Sobp	UTSW	10	42,897,300 (GRCm39)	missense	probably damaging	0.97
R4587:Sobp	UTSW	10	43,034,020 (GRCm39)	missense	probably damaging	1.00
R5108:Sobp	UTSW	10	43,036,815 (GRCm39)	missense	probably damaging	1.00
R6165:Sobp	UTSW	10	42,898,599 (GRCm39)	missense	probably damaging	1.00
R7069:Sobp	UTSW	10	42,897,436 (GRCm39)	missense	probably benign	0.37
R7346:Sobp	UTSW	10	42,898,831 (GRCm39)	missense	probably damaging	1.00
R7419:Sobp	UTSW	10	42,897,804 (GRCm39)	missense	probably benign	0.00
R7423:Sobp	UTSW	10	42,898,564 (GRCm39)	nonsense	probably null
R7475:Sobp	UTSW	10	42,897,830 (GRCm39)	missense	probably damaging	0.98
R7994:Sobp	UTSW	10	42,897,163 (GRCm39)	nonsense	probably null
R8472:Sobp	UTSW	10	42,898,392 (GRCm39)	missense	probably damaging	0.99
R8558:Sobp	UTSW	10	43,003,888 (GRCm39)	missense	probably damaging	1.00
R8770:Sobp	UTSW	10	43,036,788 (GRCm39)	missense	probably damaging	1.00
R8832:Sobp	UTSW	10	43,036,824 (GRCm39)	missense	probably damaging	1.00
R8979:Sobp	UTSW	10	42,896,976 (GRCm39)	critical splice donor site	probably null
R9109:Sobp	UTSW	10	42,898,902 (GRCm39)	missense	probably damaging	1.00
R9213:Sobp	UTSW	10	42,898,374 (GRCm39)	missense	probably benign	0.01
R9298:Sobp	UTSW	10	42,898,902 (GRCm39)	missense	probably damaging	1.00
R9702:Sobp	UTSW	10	42,897,944 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCCAAGAGTCTGGCGTGAG -3'
(R):5'- CATCTTTGAAAAGGGGCGGC -3'

Sequencing Primer
(F):5'- CACCCCGGTGCCTTCTG -3'
(R):5'- ATGGTTGTTGCTAATTTTGAGGATCC -3'

Posted On

2015-06-12