Mutagenetix > Incidental Mutation

Incidental Mutation 'R0706:Mycbpap'

63141

Institutional Source

Beutler Lab

Gene Symbol

Mycbpap

Ensembl Gene

ENSMUSG00000039110

Gene Name

MYCBP associated protein

Synonyms

4932408B01Rik, AMAP-1

MMRRC Submission

038889-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.379) question?

Stock #

R0706 (G1)

Quality Score

113

Status

Not validated

Chromosome

Chromosomal Location

94392173-94412568 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 94404612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 110 (Y110*)

Ref Sequence

ENSEMBL: ENSMUSP00000091477 (fasta)

Gene Model

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

AlphaFold

Q5SUV2

Predicted Effect

probably null
Transcript: ENSMUST00000093945
AA Change: Y110*

SMART Domains

Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: Y110*

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

noncoding transcript
Transcript: ENSMUST00000123496

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151993

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef15	C	T	11: 68,845,402 (GRCm39)	R150H	probably damaging	Het
Btnl2	T	A	17: 34,587,636 (GRCm39)	N493K	probably benign	Het
Ccdc175	G	A	12: 72,186,722 (GRCm39)	T374I	probably benign	Het
Dock4	A	G	12: 40,752,922 (GRCm39)	S419G	probably damaging	Het
Ireb2	A	G	9: 54,799,770 (GRCm39)	T404A	probably benign	Het
Klk1b5	C	T	7: 43,867,938 (GRCm39)	P37S	probably damaging	Het
Lrrc32	C	T	7: 98,148,917 (GRCm39)	R566W	probably damaging	Het
Med12l	A	G	3: 59,169,401 (GRCm39)	N1597S	probably damaging	Het
Mrpl50	T	C	4: 49,514,198 (GRCm39)	S158G	probably benign	Het
Nphp4	G	A	4: 152,640,074 (GRCm39)	A987T	probably damaging	Het
Reln	C	T	5: 22,101,809 (GRCm39)	V3374I	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Sis	T	C	3: 72,859,864 (GRCm39)	Q297R	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tprn	A	G	2: 25,154,503 (GRCm39)	I602V	probably damaging	Het
Xpo1	T	A	11: 23,230,441 (GRCm39)	V276E	probably benign	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
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
R7513:Mycbpap	UTSW	11	94,394,382 (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'- GCAACTTCTCTCAGCCACATAGCTC -3'
(R):5'- GTCACACAGGCATTTCCAGGACAG -3'

Sequencing Primer
(F):5'- GAGACTTCCCAAGATCTGGTG -3'
(R):5'- GCATTTCCAGGACAGGATGTATG -3'

Posted On

2013-07-30