Mutagenetix > Incidental Mutation

Incidental Mutation 'R0471:Ushbp1'

46760

Institutional Source

Beutler Lab

Gene Symbol

Ushbp1

Ensembl Gene

ENSMUSG00000034911

Gene Name

USH1 protein network component harmonin binding protein 1

Synonyms

MCC2, 2210404N08Rik

MMRRC Submission

038671-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0471 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

71836916-71848446 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 71847021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 204 (Q204*)

Ref Sequence

ENSEMBL: ENSMUSP00000148319 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002473] [ENSMUST00000049184] [ENSMUST00000212626]

AlphaFold

Q8R370

Predicted Effect

probably benign
Transcript: ENSMUST00000002473

SMART Domains

Protein: ENSMUSP00000002473
Gene: ENSMUSG00000031820

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
low complexity region	54	67	N/A	INTRINSIC
low complexity region	321	331	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000049184
AA Change: Q204*

SMART Domains

Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: Q204*

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
coiled coil region	179	218	N/A	INTRINSIC
Pfam:MCC-bdg_PDZ	288	352	1.3e-29	PFAM
Blast:HOLI	467	623	2e-24	BLAST
coiled coil region	628	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212516

Predicted Effect

probably null
Transcript: ENSMUST00000212626
AA Change: Q204*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213000

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213093

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,075,891 (GRCm39)		probably null	Het
Adam33	C	A	2: 130,896,399 (GRCm39)	G437C	probably damaging	Het
Aldh1a1	T	A	19: 20,579,377 (GRCm39)	M1K	probably null	Het
Amotl2	C	A	9: 102,597,718 (GRCm39)	P126Q	probably damaging	Het
Ap1g1	T	A	8: 110,580,275 (GRCm39)	M576K	possibly damaging	Het
Apob	C	A	12: 8,040,406 (GRCm39)	A581E	probably damaging	Het
Asb7	A	T	7: 66,328,907 (GRCm39)	D44E	probably damaging	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
C9orf72	G	A	4: 35,193,257 (GRCm39)	T232I	probably benign	Het
Ccdc65	A	T	15: 98,615,348 (GRCm39)	H118L	probably benign	Het
Cdc25b	A	G	2: 131,039,204 (GRCm39)	E523G	probably damaging	Het
Cdk11b	A	G	4: 155,731,999 (GRCm39)		probably benign	Het
Cilk1	G	T	9: 78,062,799 (GRCm39)		probably null	Het
Clec1b	A	G	6: 129,378,570 (GRCm39)		probably benign	Het
Cntrl	A	G	2: 35,017,392 (GRCm39)	T400A	probably benign	Het
Cpne4	T	G	9: 104,899,481 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,419,985 (GRCm39)	R249*	probably null	Het
Dock2	T	C	11: 34,579,380 (GRCm39)	I678V	probably benign	Het
Dqx1	C	T	6: 83,036,407 (GRCm39)		probably benign	Het
Dsp	A	T	13: 38,377,326 (GRCm39)	K1704*	probably null	Het
Eif2b2	T	C	12: 85,266,957 (GRCm39)	F121S	probably benign	Het
Ephx4	T	C	5: 107,561,379 (GRCm39)	V69A	possibly damaging	Het
Epn2	T	C	11: 61,426,134 (GRCm39)	Q281R	probably damaging	Het
Fgf3	A	C	7: 144,396,547 (GRCm39)	D187A	probably damaging	Het
Galnt18	C	A	7: 111,378,506 (GRCm39)		probably benign	Het
Gm4871	C	T	5: 144,968,402 (GRCm39)		probably benign	Het
Inpp4b	T	C	8: 82,768,528 (GRCm39)	I679T	possibly damaging	Het
Itpkb	A	G	1: 180,245,820 (GRCm39)	E779G	probably damaging	Het
Itsn1	G	A	16: 91,696,477 (GRCm39)	V27M	probably damaging	Het
Lrp2	C	A	2: 69,355,578 (GRCm39)	R422L	probably damaging	Het
Mmp25	G	A	17: 23,858,858 (GRCm39)	A231V	possibly damaging	Het
Mprip	T	C	11: 59,650,561 (GRCm39)	S1422P	probably damaging	Het
Mro	A	T	18: 74,009,860 (GRCm39)	Q176L	probably benign	Het
Mrpl12	A	G	11: 120,379,229 (GRCm39)	E192G	probably damaging	Het
Myo5b	A	T	18: 74,862,025 (GRCm39)		probably benign	Het
Ncam2	G	T	16: 80,997,772 (GRCm39)		probably benign	Het
Nip7	T	C	8: 107,783,949 (GRCm39)	L63P	probably damaging	Het
Nsd3	T	C	8: 26,138,450 (GRCm39)		probably benign	Het
Nup98	A	T	7: 101,788,004 (GRCm39)	V1022D	probably benign	Het
Or2y1e	T	A	11: 49,218,744 (GRCm39)	C169S	probably damaging	Het
Or5d43	A	G	2: 88,104,559 (GRCm39)	V278A	possibly damaging	Het
Or5h22	A	G	16: 58,894,633 (GRCm39)	I270T	probably benign	Het
Or7g28	A	T	9: 19,272,177 (GRCm39)	L158*	probably null	Het
P4ha2	T	C	11: 54,008,434 (GRCm39)	Y214H	possibly damaging	Het
Pacrg	A	T	17: 10,795,407 (GRCm39)	F184L	possibly damaging	Het
Parpbp	T	A	10: 87,929,569 (GRCm39)	R426S	probably damaging	Het
Pcdhb5	T	A	18: 37,454,359 (GRCm39)	Y246*	probably null	Het
Pik3cg	T	A	12: 32,244,770 (GRCm39)	T895S	probably damaging	Het
Prkch	T	C	12: 73,738,426 (GRCm39)	Y178H	probably benign	Het
Rusc2	G	T	4: 43,425,486 (GRCm39)	R1197L	probably damaging	Het
Svep1	T	C	4: 58,054,700 (GRCm39)	E3296G	possibly damaging	Het
Svs3a	A	G	2: 164,131,801 (GRCm39)	K123R	probably benign	Het
Sycp2l	A	G	13: 41,304,006 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,909,685 (GRCm39)	H717R	probably benign	Het
Tiprl	A	G	1: 165,050,092 (GRCm39)		probably null	Het
Trim24	T	G	6: 37,892,130 (GRCm39)	V151G	possibly damaging	Het
Trim33	T	C	3: 103,234,217 (GRCm39)	V56A	possibly damaging	Het
Trim67	C	A	8: 125,521,397 (GRCm39)	T253K	probably benign	Het
Trip12	T	C	1: 84,703,928 (GRCm39)	E698G	probably damaging	Het
Tspan14	T	C	14: 40,637,353 (GRCm39)	D145G	probably damaging	Het
Vmn1r71	G	C	7: 10,482,019 (GRCm39)	S223C	possibly damaging	Het
Vmn2r75	G	T	7: 85,814,721 (GRCm39)	N257K	probably benign	Het
Washc4	T	C	10: 83,394,598 (GRCm39)		probably benign	Het
Zc3h7b	G	A	15: 81,666,169 (GRCm39)	D560N	probably damaging	Het
Zscan21	T	C	5: 138,123,402 (GRCm39)	V27A	probably benign	Het
Zzef1	A	C	11: 72,813,937 (GRCm39)	E2842A	probably damaging	Het

Other mutations in Ushbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01796:Ushbp1	APN	8	71,840,076 (GRCm39)	missense	probably benign
IGL02511:Ushbp1	APN	8	71,843,581 (GRCm39)	missense	probably null	0.00
IGL02586:Ushbp1	APN	8	71,841,394 (GRCm39)	splice site	probably benign
IGL02929:Ushbp1	APN	8	71,847,120 (GRCm39)	missense	probably damaging	0.99
IGL03127:Ushbp1	APN	8	71,847,020 (GRCm39)	missense	possibly damaging	0.65
R0012:Ushbp1	UTSW	8	71,847,684 (GRCm39)	unclassified	probably benign
R0012:Ushbp1	UTSW	8	71,847,684 (GRCm39)	unclassified	probably benign
R0091:Ushbp1	UTSW	8	71,841,614 (GRCm39)	missense	possibly damaging	0.65
R0097:Ushbp1	UTSW	8	71,843,357 (GRCm39)	missense	probably damaging	0.98
R0097:Ushbp1	UTSW	8	71,843,357 (GRCm39)	missense	probably damaging	0.98
R0242:Ushbp1	UTSW	8	71,842,762 (GRCm39)	nonsense	probably null
R0242:Ushbp1	UTSW	8	71,842,762 (GRCm39)	nonsense	probably null
R0276:Ushbp1	UTSW	8	71,847,293 (GRCm39)	missense	possibly damaging	0.83
R0308:Ushbp1	UTSW	8	71,843,697 (GRCm39)	missense	probably damaging	0.99
R0726:Ushbp1	UTSW	8	71,841,391 (GRCm39)	splice site	probably benign
R0894:Ushbp1	UTSW	8	71,842,868 (GRCm39)	splice site	probably null
R1451:Ushbp1	UTSW	8	71,838,663 (GRCm39)	missense	possibly damaging	0.53
R1797:Ushbp1	UTSW	8	71,841,567 (GRCm39)	missense	probably damaging	0.99
R2393:Ushbp1	UTSW	8	71,847,132 (GRCm39)	missense	probably benign	0.05
R2905:Ushbp1	UTSW	8	71,840,179 (GRCm39)	nonsense	probably null
R4567:Ushbp1	UTSW	8	71,838,361 (GRCm39)	missense	probably damaging	0.99
R4717:Ushbp1	UTSW	8	71,838,313 (GRCm39)	missense	probably damaging	0.99
R4977:Ushbp1	UTSW	8	71,847,693 (GRCm39)	critical splice donor site	probably null
R5151:Ushbp1	UTSW	8	71,847,799 (GRCm39)	missense	possibly damaging	0.85
R5584:Ushbp1	UTSW	8	71,843,623 (GRCm39)	missense	possibly damaging	0.77
R5760:Ushbp1	UTSW	8	71,840,012 (GRCm39)	missense	probably damaging	0.96
R5769:Ushbp1	UTSW	8	71,838,863 (GRCm39)	missense	probably benign
R6186:Ushbp1	UTSW	8	71,843,647 (GRCm39)	missense	possibly damaging	0.91
R6661:Ushbp1	UTSW	8	71,843,305 (GRCm39)	missense	unknown
R7172:Ushbp1	UTSW	8	71,841,410 (GRCm39)	missense	possibly damaging	0.85
R7252:Ushbp1	UTSW	8	71,847,246 (GRCm39)	missense	probably benign
R7352:Ushbp1	UTSW	8	71,841,525 (GRCm39)	missense	possibly damaging	0.46
R7650:Ushbp1	UTSW	8	71,843,568 (GRCm39)	missense	possibly damaging	0.77
R7891:Ushbp1	UTSW	8	71,841,422 (GRCm39)	missense	possibly damaging	0.86
R8491:Ushbp1	UTSW	8	71,845,041 (GRCm39)	missense	probably benign
R9126:Ushbp1	UTSW	8	71,843,653 (GRCm39)	missense	probably damaging	0.98
R9189:Ushbp1	UTSW	8	71,841,539 (GRCm39)	missense	probably benign
R9680:Ushbp1	UTSW	8	71,838,573 (GRCm39)	missense	possibly damaging	0.86
R9770:Ushbp1	UTSW	8	71,838,868 (GRCm39)	missense	possibly damaging	0.91
Z1176:Ushbp1	UTSW	8	71,843,333 (GRCm39)	missense	probably benign
Z1177:Ushbp1	UTSW	8	71,847,225 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GAGTGTTAAGATCATGGGGTGCAGC -3'
(R):5'- TGTATGAGACCTTGCAGTGCAGGC -3'

Sequencing Primer
(F):5'- tgcagcctgcctgtctTC -3'
(R):5'- GCTAAGCTTTCCAAAGTCAGTGG -3'

Posted On

2013-06-11