Mutagenetix > Incidental Mutation

Incidental Mutation 'R7513:Mycbpap'

582241

Institutional Source

Beutler Lab

Gene Symbol

Mycbpap

Ensembl Gene

ENSMUSG00000039110

Gene Name

MYCBP associated protein

Synonyms

4932408B01Rik, AMAP-1

MMRRC Submission

045586-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.325) question?

Stock #

R7513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94392173-94412568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94394382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 296 (D296V)

Ref Sequence

ENSEMBL: ENSMUSP00000047579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040692] [ENSMUST00000093945] [ENSMUST00000127305]

AlphaFold

Q5SUV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000040692
AA Change: D296V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
AA Change: D296V

Domain	Start	End	E-Value	Type
Pfam:MYCBPAP	6	85	2.3e-19	PFAM
low complexity region	330	342	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000093945
AA Change: D814V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: D814V

Domain	Start	End	E-Value	Type
low complexity region	23	36	N/A	INTRINSIC
low complexity region	164	176	N/A	INTRINSIC
Pfam:MYCBPAP	184	602	3.7e-144	PFAM
low complexity region	848	860	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127305

SMART Domains

Protein: ENSMUSP00000121390
Gene: ENSMUSG00000010080

Domain	Start	End	E-Value	Type
ENTH	18	144	1.3e-62	SMART
low complexity region	167	190	N/A	INTRINSIC
UIM	202	221	2.11e-2	SMART
UIM	229	248	5.27e-3	SMART
low complexity region	269	285	N/A	INTRINSIC
low complexity region	554	572	N/A	INTRINSIC
low complexity region	578	588	N/A	INTRINSIC
low complexity region	599	618	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,765,771 (GRCm39)	W694*	probably null	Het
Accs	T	C	2: 93,670,437 (GRCm39)	N256S	possibly damaging	Het
Agmo	C	T	12: 37,294,352 (GRCm39)	T100I	probably benign	Het
Alox8	T	C	11: 69,078,670 (GRCm39)	D341G	probably benign	Het
Apol7c	T	A	15: 77,409,911 (GRCm39)	E345V	possibly damaging	Het
Arl5a	A	G	2: 52,302,157 (GRCm39)	F86L	possibly damaging	Het
AU040320	A	G	4: 126,686,057 (GRCm39)	E211G	probably benign	Het
B020011L13Rik	T	A	1: 117,729,149 (GRCm39)	C219S	probably damaging	Het
Btaf1	T	A	19: 36,955,803 (GRCm39)	L579Q	probably benign	Het
Cd84	T	A	1: 171,712,185 (GRCm39)	V267E	probably benign	Het
Cdcp3	G	A	7: 130,873,800 (GRCm39)	G1709R	unknown	Het
Clec11a	T	C	7: 43,955,780 (GRCm39)	E89G	probably benign	Het
Csrnp2	C	A	15: 100,380,297 (GRCm39)	E331D	probably benign	Het
Cyp2d12	C	A	15: 82,442,621 (GRCm39)	H355N	probably benign	Het
Ddx24	C	A	12: 103,385,365 (GRCm39)	G413*	probably null	Het
Dhx38	G	A	8: 110,287,221 (GRCm39)	P249L	probably benign	Het
Dip2a	A	T	10: 76,149,069 (GRCm39)	M233K	probably benign	Het
Dip2b	T	A	15: 100,105,629 (GRCm39)		probably null	Het
Dmbt1	T	C	7: 130,692,242 (GRCm39)	S1003P	unknown	Het
Dna2	A	G	10: 62,807,747 (GRCm39)	D1033G	probably benign	Het
Dnah5	T	C	15: 28,370,561 (GRCm39)	S2834P	probably benign	Het
Dnah7b	T	G	1: 46,163,506 (GRCm39)	S437A	probably benign	Het
Eif5	A	T	12: 111,506,686 (GRCm39)	I93F	probably damaging	Het
Fbxo47	A	G	11: 97,747,055 (GRCm39)	F337S	probably damaging	Het
Helz	T	C	11: 107,546,941 (GRCm39)	I1086T	probably damaging	Het
Ifi208	A	T	1: 173,523,220 (GRCm39)	R497*	probably null	Het
Igfn1	T	G	1: 135,887,705 (GRCm39)	D2453A	probably damaging	Het
Ighg2c	A	T	12: 113,252,471 (GRCm39)	L27Q		Het
Jak1	C	T	4: 101,048,848 (GRCm39)	C10Y	probably damaging	Het
Kif7	T	A	7: 79,360,776 (GRCm39)	N200Y	possibly damaging	Het
Ktn1	G	C	14: 47,901,541 (GRCm39)	A100P	possibly damaging	Het
Lrsam1	T	C	2: 32,843,497 (GRCm39)	D136G	probably benign	Het
Man2c1	T	C	9: 57,046,683 (GRCm39)	L648P	probably benign	Het
Mki67	T	C	7: 135,294,952 (GRCm39)	I3116V	probably benign	Het
Mmp10	A	T	9: 7,508,128 (GRCm39)	D418V	probably damaging	Het
Mrpl24	A	T	3: 87,829,734 (GRCm39)	T107S	probably benign	Het
Mycn	C	A	12: 12,989,743 (GRCm39)	A218S	probably benign	Het
Myo1f	G	T	17: 33,794,788 (GRCm39)	W9C	probably damaging	Het
Nckap1	T	A	2: 80,332,635 (GRCm39)	K1074N	possibly damaging	Het
Neb	T	C	2: 52,099,552 (GRCm39)	D4766G	possibly damaging	Het
Nhsl1	T	C	10: 18,399,700 (GRCm39)	S275P	probably damaging	Het
Or2d3c	A	G	7: 106,526,483 (GRCm39)	F61S	possibly damaging	Het
Or5k16	T	A	16: 58,736,295 (GRCm39)	K236N	probably damaging	Het
Pam	G	A	1: 97,780,910 (GRCm39)	P514S	possibly damaging	Het
Pcdha4	C	T	18: 37,086,392 (GRCm39)	L192F	probably damaging	Het
Per1	T	A	11: 68,996,397 (GRCm39)	D800E	probably benign	Het
Plcg2	C	A	8: 118,306,592 (GRCm39)	N315K	probably damaging	Het
Plxnb2	T	A	15: 89,042,525 (GRCm39)		probably null	Het
Pnpla1	A	G	17: 29,077,781 (GRCm39)		probably benign	Het
Pptc7	A	T	5: 122,446,192 (GRCm39)		probably null	Het
Psg26	G	T	7: 18,209,225 (GRCm39)	S394R	probably benign	Het
Psmc1	C	A	12: 100,081,773 (GRCm39)	T125K	probably benign	Het
Ptgis	T	A	2: 167,067,203 (GRCm39)	M125L	probably benign	Het
Rbms1	A	G	2: 60,589,165 (GRCm39)	Y323H	probably damaging	Het
Rgl2	G	A	17: 34,151,529 (GRCm39)	R191Q	probably benign	Het
Sirpb1a	G	A	3: 15,476,503 (GRCm39)	T98I	possibly damaging	Het
Sirpb1b	C	A	3: 15,607,200 (GRCm39)	E361*	probably null	Het
Slc13a4	A	T	6: 35,260,272 (GRCm39)		probably null	Het
Spag9	T	C	11: 94,002,909 (GRCm39)	S1140P	probably damaging	Het
Spata31e4	T	A	13: 50,856,909 (GRCm39)	I849N	probably benign	Het
Tas2r140	A	G	6: 40,469,084 (GRCm39)	N305D	probably damaging	Het
Tenm2	G	A	11: 35,942,727 (GRCm39)	A1314V	probably benign	Het
Tgm3	A	G	2: 129,866,324 (GRCm39)	T81A	probably benign	Het
Timeless	T	C	10: 128,085,399 (GRCm39)	V839A	probably damaging	Het
Tmem132a	A	G	19: 10,837,492 (GRCm39)	I606T	probably damaging	Het
Tox	T	A	4: 6,741,507 (GRCm39)	M158L	probably benign	Het
Trpc2	A	T	7: 101,739,275 (GRCm39)	M549L	probably damaging	Het
Trpm5	C	T	7: 142,635,572 (GRCm39)	R600Q	possibly damaging	Het
Trpv1	A	G	11: 73,131,367 (GRCm39)	N302D	probably damaging	Het
Ttn	C	T	2: 76,681,940 (GRCm39)	R1019H		Het
Ttn	G	T	2: 76,775,307 (GRCm39)	H1958N	unknown	Het
Usp32	A	T	11: 84,917,938 (GRCm39)	Y769*	probably null	Het
Vim	A	T	2: 13,583,443 (GRCm39)	Q255L	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,994 (GRCm39)	H233R	probably benign	Het
Xirp2	T	A	2: 67,341,108 (GRCm39)	H1116Q	possibly damaging	Het
Zc3h18	G	T	8: 123,134,993 (GRCm39)	R580L	unknown	Het
Zfp267	T	A	3: 36,218,792 (GRCm39)	F272I	possibly damaging	Het
Zfp442	A	T	2: 150,250,676 (GRCm39)	C409S	unknown	Het
Zfy1	A	T	Y: 759,852 (GRCm39)	I20K	unknown	Het

Other mutations in Mycbpap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Mycbpap	APN	11	94,400,145 (GRCm39)	splice site	probably null
IGL01372:Mycbpap	APN	11	94,397,282 (GRCm39)	missense	possibly damaging	0.56
IGL01627:Mycbpap	APN	11	94,405,430 (GRCm39)	missense	probably damaging	0.98
IGL01645:Mycbpap	APN	11	94,394,293 (GRCm39)	splice site	probably null
IGL01712:Mycbpap	APN	11	94,403,481 (GRCm39)	missense	possibly damaging	0.50
IGL02209:Mycbpap	APN	11	94,400,708 (GRCm39)	splice site	probably benign
IGL02377:Mycbpap	APN	11	94,394,076 (GRCm39)	missense	probably damaging	1.00
IGL03088:Mycbpap	APN	11	94,404,769 (GRCm39)	critical splice acceptor site	probably null
IGL03412:Mycbpap	APN	11	94,398,927 (GRCm39)	splice site	probably null
IGL03046:Mycbpap	UTSW	11	94,396,543 (GRCm39)	missense	possibly damaging	0.84
P0008:Mycbpap	UTSW	11	94,394,893 (GRCm39)	missense	probably damaging	1.00
R0053:Mycbpap	UTSW	11	94,402,562 (GRCm39)	missense	probably damaging	1.00
R0053:Mycbpap	UTSW	11	94,402,562 (GRCm39)	missense	probably damaging	1.00
R0437:Mycbpap	UTSW	11	94,404,338 (GRCm39)	splice site	probably benign
R0706:Mycbpap	UTSW	11	94,404,612 (GRCm39)	nonsense	probably null
R0791:Mycbpap	UTSW	11	94,402,449 (GRCm39)	critical splice donor site	probably null
R1496:Mycbpap	UTSW	11	94,396,387 (GRCm39)	missense	probably benign	0.11
R1522:Mycbpap	UTSW	11	94,402,449 (GRCm39)	critical splice donor site	probably null
R1698:Mycbpap	UTSW	11	94,398,969 (GRCm39)	nonsense	probably null
R1796:Mycbpap	UTSW	11	94,398,377 (GRCm39)	missense	probably damaging	1.00
R1906:Mycbpap	UTSW	11	94,396,447 (GRCm39)	missense	probably benign	0.24
R4115:Mycbpap	UTSW	11	94,403,051 (GRCm39)	splice site	probably null
R4930:Mycbpap	UTSW	11	94,393,983 (GRCm39)	missense	probably benign	0.20
R4965:Mycbpap	UTSW	11	94,395,764 (GRCm39)	missense	probably damaging	1.00
R5323:Mycbpap	UTSW	11	94,394,330 (GRCm39)	missense	probably benign	0.00
R5326:Mycbpap	UTSW	11	94,398,572 (GRCm39)	splice site	probably null
R5542:Mycbpap	UTSW	11	94,398,572 (GRCm39)	splice site	probably null
R5625:Mycbpap	UTSW	11	94,396,519 (GRCm39)	missense	probably damaging	0.99
R5841:Mycbpap	UTSW	11	94,396,436 (GRCm39)	missense	probably damaging	1.00
R5996:Mycbpap	UTSW	11	94,404,420 (GRCm39)	missense	probably benign
R6065:Mycbpap	UTSW	11	94,399,013 (GRCm39)	splice site	probably null
R6192:Mycbpap	UTSW	11	94,398,557 (GRCm39)	missense	probably damaging	1.00
R7027:Mycbpap	UTSW	11	94,405,440 (GRCm39)	missense	probably damaging	1.00
R7329:Mycbpap	UTSW	11	94,400,073 (GRCm39)	missense	probably damaging	1.00
R8485:Mycbpap	UTSW	11	94,405,359 (GRCm39)	missense	probably benign	0.01
R8485:Mycbpap	UTSW	11	94,402,534 (GRCm39)	missense	probably damaging	0.96
R8985:Mycbpap	UTSW	11	94,404,722 (GRCm39)	missense	probably benign	0.42
R9116:Mycbpap	UTSW	11	94,398,032 (GRCm39)	intron	probably benign
R9173:Mycbpap	UTSW	11	94,397,209 (GRCm39)	missense	probably damaging	1.00
R9413:Mycbpap	UTSW	11	94,392,321 (GRCm39)	missense	probably damaging	1.00
R9428:Mycbpap	UTSW	11	94,393,995 (GRCm39)	missense	probably damaging	1.00
Z1177:Mycbpap	UTSW	11	94,400,680 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTCAATGGCTCCTAAGGG -3'
(R):5'- TTGCAGGGATTCTCTTAAAGCGTC -3'

Sequencing Primer
(F):5'- CCTAAGGGAGGTCTGATGCTCTC -3'
(R):5'- GGGATTCTCTTAAAGCGTCTGAGAAC -3'

Posted On

2019-10-17