Mutagenetix > Incidental Mutation

Incidental Mutation 'R7172:Ushbp1'

558349

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

045264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71836916-71848446 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 71841410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 473 (A473E)

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: A473E

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000045668
Gene: ENSMUSG00000034911
AA Change: A473E

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA467197	A	T	2: 122,480,238 (GRCm39)	Y33F	probably damaging	Het
Abca4	C	T	3: 121,897,189 (GRCm39)	Q623*	probably null	Het
Abcb1a	A	T	5: 8,752,399 (GRCm39)	I457F	probably benign	Het
Abcb9	G	A	5: 124,200,869 (GRCm39)	Q716*	probably null	Het
Abhd15	T	C	11: 77,406,122 (GRCm39)	V33A	probably benign	Het
Abl2	A	G	1: 156,450,157 (GRCm39)	D108G	probably damaging	Het
Adamts3	G	A	5: 90,030,860 (GRCm39)		probably benign	Het
Atmin	G	T	8: 117,683,281 (GRCm39)	V314L	probably damaging	Het
Axl	G	T	7: 25,486,399 (GRCm39)	Q102K	probably benign	Het
Cdhr5	A	G	7: 140,851,841 (GRCm39)	S488P	possibly damaging	Het
Cnn1	C	A	9: 22,016,790 (GRCm39)	A126D	probably damaging	Het
Col25a1	A	T	3: 130,363,981 (GRCm39)	K537*	probably null	Het
Cxcl2	A	G	5: 91,051,879 (GRCm39)	T26A	probably benign	Het
Dcc	T	C	18: 71,511,755 (GRCm39)	T887A	probably benign	Het
Dhx36	T	C	3: 62,408,436 (GRCm39)	D134G	probably benign	Het
Dnah17	T	A	11: 117,931,957 (GRCm39)	K3672*	probably null	Het
Fadd	G	T	7: 144,135,908 (GRCm39)	H73Q	probably benign	Het
Fancm	A	G	12: 65,152,828 (GRCm39)	N1095D	possibly damaging	Het
Fhod3	T	C	18: 25,218,603 (GRCm39)	S789P	probably damaging	Het
Glis2	G	A	16: 4,431,339 (GRCm39)	V289I	probably benign	Het
Gm17728	A	C	17: 9,641,220 (GRCm39)	D110A	probably damaging	Het
Gm9602	T	A	14: 15,933,429 (GRCm39)	S45T	possibly damaging	Het
Gpr137	A	G	19: 6,917,049 (GRCm39)	S161P	possibly damaging	Het
Gpr89	C	T	3: 96,787,385 (GRCm39)		probably null	Het
Gps2	C	T	11: 69,807,262 (GRCm39)	T306I	probably benign	Het
Hmcn1	A	G	1: 150,629,450 (GRCm39)	Y936H	possibly damaging	Het
Hoxa5	A	G	6: 52,181,276 (GRCm39)	Y19H	probably damaging	Het
Ifit2	G	T	19: 34,550,894 (GRCm39)	A145S	probably benign	Het
Impdh2	G	T	9: 108,437,809 (GRCm39)	C26F	probably benign	Het
Kcnh6	T	C	11: 105,911,100 (GRCm39)	Y552H	possibly damaging	Het
Kcnma1	A	T	14: 23,576,691 (GRCm39)	M254K	probably damaging	Het
Klhdc9	A	T	1: 171,188,228 (GRCm39)	M1K	probably null	Het
Klk1b11	A	T	7: 43,648,671 (GRCm39)	D194V	possibly damaging	Het
Lama1	A	G	17: 68,111,540 (GRCm39)	I2264V		Het
Lmntd2	A	G	7: 140,793,554 (GRCm39)	S111P	unknown	Het
Megf8	T	C	7: 25,043,092 (GRCm39)	L1338P	probably damaging	Het
Mipol1	G	A	12: 57,372,321 (GRCm39)	E127K	possibly damaging	Het
Mmp25	A	T	17: 23,863,762 (GRCm39)	C23S	probably benign	Het
Mup8	A	T	4: 60,222,425 (GRCm39)	C15*	probably null	Het
Myh2	A	T	11: 67,079,527 (GRCm39)	T995S	probably benign	Het
Myo1d	C	T	11: 80,483,621 (GRCm39)	V863I	probably benign	Het
N4bp1	A	G	8: 87,587,052 (GRCm39)		probably null	Het
Nat10	G	T	2: 103,563,314 (GRCm39)	P562T	probably damaging	Het
Nedd9	C	G	13: 41,470,280 (GRCm39)	R291P	probably benign	Het
Nlrc3	G	T	16: 3,781,617 (GRCm39)	H613Q	probably benign	Het
Ntn1	A	T	11: 68,276,493 (GRCm39)	C152S	probably damaging	Het
Or2av9	T	A	11: 58,380,571 (GRCm39)	I337F	unknown	Het
Pam	A	T	1: 97,762,203 (GRCm39)	D793E	probably benign	Het
Patz1	T	G	11: 3,258,032 (GRCm39)	V631G	probably benign	Het
Pcdh15	G	A	10: 74,338,597 (GRCm39)	V1068M	probably damaging	Het
Pramel17	A	G	4: 101,694,193 (GRCm39)	V230A	probably benign	Het
Prmt5	A	G	14: 54,752,343 (GRCm39)	F151S	possibly damaging	Het
Pygo2	G	A	3: 89,339,943 (GRCm39)	V114I	probably benign	Het
Rabgap1l	A	T	1: 160,561,156 (GRCm39)	S220R	probably benign	Het
Rdh7	T	G	10: 127,724,218 (GRCm39)	S89R	possibly damaging	Het
Rgsl1	A	C	1: 153,701,966 (GRCm39)	W163G	possibly damaging	Het
Ryr3	T	A	2: 112,492,002 (GRCm39)	N3783I	probably damaging	Het
Shld2	G	A	14: 33,959,525 (GRCm39)	T819I	probably damaging	Het
Slit1	A	G	19: 41,623,105 (GRCm39)	L644P	probably damaging	Het
Steap2	A	G	5: 5,732,896 (GRCm39)	S43P	possibly damaging	Het
Susd1	A	T	4: 59,315,420 (GRCm39)		probably null	Het
Tbc1d9	A	G	8: 83,981,390 (GRCm39)	M686V	probably damaging	Het
Tdrp	G	A	8: 14,024,579 (GRCm39)	R22*	probably null	Het
Tmem245	A	G	4: 56,903,946 (GRCm39)	V598A	possibly damaging	Het
Tnxb	A	G	17: 34,914,994 (GRCm39)	E1994G	probably damaging	Het
Trcg1	T	A	9: 57,155,618 (GRCm39)	V757E	probably benign	Het
Trim10	A	G	17: 37,180,955 (GRCm39)	E62G	possibly damaging	Het
Vmn1r50	A	C	6: 90,084,386 (GRCm39)	K44Q	possibly damaging	Het
Wdr75	A	G	1: 45,838,294 (GRCm39)	N68D	probably damaging	Het
Wdr83	A	G	8: 85,806,453 (GRCm39)	V115A	probably damaging	Het
Zdhhc17	A	G	10: 110,845,809 (GRCm39)	L28P	possibly damaging	Het
Zfp738	C	T	13: 67,818,527 (GRCm39)	C488Y	probably damaging	Het
Zfp987	T	G	4: 146,058,572 (GRCm39)	L50W	probably damaging	Het
Zfyve28	G	T	5: 34,391,753 (GRCm39)	R133S	probably benign	Het
Zscan20	G	T	4: 128,479,469 (GRCm39)	C1007*	probably null	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
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'- TTATGGAAAACCTAATCAGGAGGAC -3'
(R):5'- TGTGGACAAGCCTACACCAG -3'

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

Posted On

2019-06-26