Mutagenetix > Incidental Mutation

Incidental Mutation 'R9413:Mycbpap'

711905

Institutional Source

Beutler Lab

Gene Symbol

Mycbpap

Ensembl Gene

ENSMUSG00000039110

Gene Name

MYCBP associated protein

Synonyms

AMAP-1, 4932408B01Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_170671.2; MGI: 2388726

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R9413 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94501347-94521742 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94501495 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 390 (V390A)

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: V390A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000047579
Gene: ENSMUSG00000039110
AA Change: V390A

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: V908A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091477
Gene: ENSMUSG00000039110
AA Change: V908A

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: 99.7%
20x: 99.1%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,527,199	T1194S	probably benign	Het
Akr7a5	A	T	4: 139,310,748		probably benign	Het
Ap3b2	G	T	7: 81,478,009	P140T	possibly damaging	Het
Ap3s1	T	C	18: 46,754,464		probably null	Het
Arrdc2	C	T	8: 70,836,248	R381H	probably damaging	Het
Atg13	T	C	2: 91,681,625	D286G	probably benign	Het
C1qtnf4	T	C	2: 90,890,304	F307S	probably damaging	Het
Cdk5rap1	A	T	2: 154,365,960		probably null	Het
Chsy3	C	T	18: 59,176,098	A141V	possibly damaging	Het
Creb3l1	C	T	2: 91,991,886		probably null	Het
D5Ertd579e	A	G	5: 36,614,934	S706P	probably damaging	Het
Ell2	A	G	13: 75,769,586	D545G		Het
Ephb6	T	C	6: 41,614,575	L222P		Het
Flnc	G	A	6: 29,441,485	R422Q	probably benign	Het
Gm6619	A	T	6: 131,491,407	D167V	unknown	Het
Gucy2c	T	C	6: 136,723,773	D581G	possibly damaging	Het
Hectd1	G	A	12: 51,746,097	R2471*	probably null	Het
Kif1a	A	T	1: 93,021,297	M1501K	probably benign	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Pex3	A	G	10: 13,534,710	Y236H	probably damaging	Het
Pglyrp3	G	T	3: 92,022,799	A91S	probably damaging	Het
Ppp1ca	T	C	19: 4,194,898	S292P	probably damaging	Het
Prkci	T	C	3: 31,043,766	V455A	probably damaging	Het
Prrx1	A	G	1: 163,312,613	V8A	probably benign	Het
Psd4	C	T	2: 24,397,460	T468I	probably benign	Het
Rnf213	A	G	11: 119,466,233	E4203G		Het
Snrnp27	T	C	6: 86,676,273	D121G	possibly damaging	Het
Spag6	A	T	2: 18,734,218	M320L	probably benign	Het
Spata16	T	A	3: 26,924,337	M484K	possibly damaging	Het
Trim69	G	A	2: 122,178,602	W381*	probably null	Het
Tubgcp3	A	C	8: 12,624,885	I745S	probably damaging	Het
Ubxn2b	A	G	4: 6,204,607	D156G	probably damaging	Het
Vmn2r103	A	G	17: 19,811,896	N644S	possibly damaging	Het

Other mutations in Mycbpap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01313:Mycbpap	APN	11	94509319	splice site	probably null
IGL01372:Mycbpap	APN	11	94506456	missense	possibly damaging	0.56
IGL01627:Mycbpap	APN	11	94514604	missense	probably damaging	0.98
IGL01645:Mycbpap	APN	11	94503467	splice site	probably null
IGL01712:Mycbpap	APN	11	94512655	missense	possibly damaging	0.50
IGL02209:Mycbpap	APN	11	94509882	splice site	probably benign
IGL02377:Mycbpap	APN	11	94503250	missense	probably damaging	1.00
IGL03088:Mycbpap	APN	11	94513943	critical splice acceptor site	probably null
IGL03412:Mycbpap	APN	11	94508101	splice site	probably null
IGL03046:Mycbpap	UTSW	11	94505717	missense	possibly damaging	0.84
P0008:Mycbpap	UTSW	11	94504067	missense	probably damaging	1.00
R0053:Mycbpap	UTSW	11	94511736	missense	probably damaging	1.00
R0053:Mycbpap	UTSW	11	94511736	missense	probably damaging	1.00
R0437:Mycbpap	UTSW	11	94513512	splice site	probably benign
R0706:Mycbpap	UTSW	11	94513786	nonsense	probably null
R0791:Mycbpap	UTSW	11	94511623	critical splice donor site	probably null
R1496:Mycbpap	UTSW	11	94505561	missense	probably benign	0.11
R1522:Mycbpap	UTSW	11	94511623	critical splice donor site	probably null
R1698:Mycbpap	UTSW	11	94508143	nonsense	probably null
R1796:Mycbpap	UTSW	11	94507551	missense	probably damaging	1.00
R1906:Mycbpap	UTSW	11	94505621	missense	probably benign	0.24
R4115:Mycbpap	UTSW	11	94512225	splice site	probably null
R4930:Mycbpap	UTSW	11	94503157	missense	probably benign	0.20
R4965:Mycbpap	UTSW	11	94504938	missense	probably damaging	1.00
R5323:Mycbpap	UTSW	11	94503504	missense	probably benign	0.00
R5326:Mycbpap	UTSW	11	94507746	splice site	probably null
R5542:Mycbpap	UTSW	11	94507746	splice site	probably null
R5625:Mycbpap	UTSW	11	94505693	missense	probably damaging	0.99
R5841:Mycbpap	UTSW	11	94505610	missense	probably damaging	1.00
R5996:Mycbpap	UTSW	11	94513594	missense	probably benign
R6065:Mycbpap	UTSW	11	94508187	splice site	probably null
R6192:Mycbpap	UTSW	11	94507731	missense	probably damaging	1.00
R7027:Mycbpap	UTSW	11	94514614	missense	probably damaging	1.00
R7329:Mycbpap	UTSW	11	94509247	missense	probably damaging	1.00
R7513:Mycbpap	UTSW	11	94503556	missense	probably damaging	1.00
R8485:Mycbpap	UTSW	11	94511708	missense	probably damaging	0.96
R8485:Mycbpap	UTSW	11	94514533	missense	probably benign	0.01
R8985:Mycbpap	UTSW	11	94513896	missense	probably benign	0.42
R9116:Mycbpap	UTSW	11	94507206	intron	probably benign
R9173:Mycbpap	UTSW	11	94506383	missense	probably damaging	1.00
R9428:Mycbpap	UTSW	11	94503169	missense	probably damaging	1.00
Z1177:Mycbpap	UTSW	11	94509854	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGCCGTTGAGATCCAGC -3'
(R):5'- CCAATACAGAACTGGGACTGAG -3'

Sequencing Primer
(F):5'- GTTGAGATCCAGCATCCCCAGAG -3'
(R):5'- AACTGGGACTGAGCCCAG -3'

Posted On

2022-05-16