Mutagenetix > Incidental Mutation

Incidental Mutation 'R7891:Ushbp1'

609335

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

045943-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7891 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71836916-71848446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 71841422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 469 (Q469P)

Ref Sequence

ENSEMBL: ENSMUSP00000045668 (fasta)

Gene Model

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

AlphaFold

Q8R370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049184
AA Change: Q469P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: Q469P

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

probably benign
Transcript: ENSMUST00000212626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025C18Rik	T	G	2: 164,920,864 (GRCm39)	E56D	unknown	Het
9930111J21Rik2	T	C	11: 48,910,543 (GRCm39)	Q630R	probably benign	Het
Abca9	A	G	11: 110,054,098 (GRCm39)	V68A	probably benign	Het
Acnat1	G	A	4: 49,449,181 (GRCm39)	A195V	possibly damaging	Het
Acsl3	C	T	1: 78,681,305 (GRCm39)	A612V	probably benign	Het
Adam12	A	T	7: 133,599,961 (GRCm39)	D115E	probably benign	Het
Adam3	T	A	8: 25,197,513 (GRCm39)		probably null	Het
Aif1	G	A	17: 35,391,600 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,824,139 (GRCm39)	D154G	probably damaging	Het
Arid3b	A	G	9: 57,717,442 (GRCm39)	C233R	probably benign	Het
Ccdc7b	T	A	8: 129,799,146 (GRCm39)	D74E	unknown	Het
Cckbr	T	A	7: 105,084,557 (GRCm39)	D430E	probably benign	Het
Chpf	T	C	1: 75,451,939 (GRCm39)	H667R	probably benign	Het
Dnah8	A	G	17: 30,931,263 (GRCm39)	E1426G	probably benign	Het
Dync1h1	A	G	12: 110,609,590 (GRCm39)	I2791V	probably benign	Het
Ehd3	A	G	17: 74,123,387 (GRCm39)	N130S	probably benign	Het
Fgfr4	A	G	13: 55,306,964 (GRCm39)	T218A	probably benign	Het
Foxe1	G	A	4: 46,344,599 (GRCm39)	E136K	possibly damaging	Het
Frmpd1	A	G	4: 45,284,478 (GRCm39)	S1100G	probably benign	Het
Gask1b	G	A	3: 79,793,591 (GRCm39)	A20T	probably benign	Het
Gm21886	T	G	18: 80,132,972 (GRCm39)	Q62P	probably null	Het
Golga4	A	G	9: 118,385,434 (GRCm39)	E852G	probably damaging	Het
Gprin3	T	C	6: 59,330,696 (GRCm39)	D537G	probably benign	Het
Gpx5	C	A	13: 21,472,918 (GRCm39)	D139Y	probably damaging	Het
Hmcn1	T	C	1: 150,468,940 (GRCm39)	Y5007C	probably damaging	Het
Igsf10	G	A	3: 59,235,832 (GRCm39)	R1450*	probably null	Het
Kif21a	G	A	15: 90,840,517 (GRCm39)	P1200S	probably damaging	Het
Kmt2c	G	A	5: 25,505,109 (GRCm39)	R3400C	probably damaging	Het
Miox	A	C	15: 89,220,742 (GRCm39)	M216L	probably benign	Het
Mphosph9	T	C	5: 124,428,967 (GRCm39)	Y687C	probably damaging	Het
Mxi1	T	A	19: 53,299,192 (GRCm39)	V21D	probably benign	Het
Nbeal1	T	C	1: 60,299,591 (GRCm39)	L1309P	probably benign	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10ag54	A	T	2: 87,099,421 (GRCm39)	T99S	possibly damaging	Het
Or13c25	C	T	4: 52,911,663 (GRCm39)	V44I	probably benign	Het
Or4c100	G	A	2: 88,356,289 (GRCm39)	V121I	probably benign	Het
Or7g22	T	C	9: 19,049,141 (GRCm39)	M284T	possibly damaging	Het
Polq	A	G	16: 36,848,244 (GRCm39)	T284A	probably damaging	Het
Polrmt	A	T	10: 79,577,714 (GRCm39)	M295K	probably damaging	Het
Pou2af1	G	T	9: 51,144,297 (GRCm39)	M70I	probably damaging	Het
Pou3f1	G	A	4: 124,552,232 (GRCm39)	E245K	probably damaging	Het
Psmb1	C	T	17: 15,714,748 (GRCm39)	V50I	probably benign	Het
Ptgis	T	C	2: 167,069,434 (GRCm39)	D50G	probably damaging	Het
R3hdm2	A	G	10: 127,334,443 (GRCm39)	I955M	probably benign	Het
Rasef	G	A	4: 73,677,935 (GRCm39)	T97I	probably benign	Het
Rasef	T	C	4: 73,709,201 (GRCm39)	T11A	probably benign	Het
Sema4c	C	A	1: 36,588,995 (GRCm39)	L710F	probably damaging	Het
Slc39a10	C	T	1: 46,851,328 (GRCm39)	A721T	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,139 (GRCm39)	C1330R	possibly damaging	Het
Susd1	T	C	4: 59,349,915 (GRCm39)	D560G	possibly damaging	Het
Tnfrsf1b	T	C	4: 144,955,660 (GRCm39)	Y32C	probably damaging	Het
Trhr2	C	A	8: 123,084,083 (GRCm39)	V306F	probably damaging	Het
Trpm6	A	T	19: 18,754,074 (GRCm39)	Q35L	probably benign	Het
Ttbk2	A	G	2: 120,616,510 (GRCm39)	S197P	probably damaging	Het
Uggt2	T	A	14: 119,280,059 (GRCm39)	E806D	probably benign	Het
Vmn1r73	G	A	7: 11,491,036 (GRCm39)	V285I	possibly damaging	Het
Zfp934	A	C	13: 62,668,003 (GRCm39)	S63R	probably benign	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
R0471:Ushbp1	UTSW	8	71,847,021 (GRCm39)	nonsense	probably null
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
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'- TTATGGAAAACCTAATCAGGAGGAC -3'
(R):5'- TGGACAAGCCTACACCAGAG -3'

Sequencing Primer
(F):5'- GGACAAACTCCTATGCAGTCCTC -3'
(R):5'- GAACTGGCCTCTCAGCTCCATG -3'

Posted On

2019-12-20