Mutagenetix > Incidental Mutation

Incidental Mutation 'R7889:Trp53i11'

609194

Institutional Source

Beutler Lab

Gene Symbol

Trp53i11

Ensembl Gene

ENSMUSG00000068735

Gene Name

transformation related protein 53 inducible protein 11

Synonyms

Tp53i11

MMRRC Submission

045941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93017893-93032104 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93029244 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 81 (L81P)

Ref Sequence

ENSEMBL: ENSMUSP00000088042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090554] [ENSMUST00000111265] [ENSMUST00000111266] [ENSMUST00000150462]

AlphaFold

Q4QQM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000090554
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000088042
Gene: ENSMUSG00000068735
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:p53-inducible11	10	188	8.5e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111265

SMART Domains

Protein: ENSMUSP00000106896
Gene: ENSMUSG00000027217

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	247	3.3e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000111266
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000106897
Gene: ENSMUSG00000068735
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:p53-inducible11	10	188	2.1e-89	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150462
AA Change: L81P

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

SMART Domains

Protein: ENSMUSP00000115918
Gene: ENSMUSG00000068735
AA Change: L81P

Domain	Start	End	E-Value	Type
Pfam:p53-inducible11	10	87	1.5e-48	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	A	G	3: 37,632,959 (GRCm39)	D855G	probably benign	Het
Angptl3	C	T	4: 98,919,308 (GRCm39)	L23F	probably benign	Het
Art2a	C	T	7: 101,204,418 (GRCm39)	S40N	not run	Het
Ash1l	A	G	3: 88,873,345 (GRCm39)	T43A	probably benign	Het
Atp1a2	G	A	1: 172,105,631 (GRCm39)		probably null	Het
Azi2	A	G	9: 117,890,983 (GRCm39)	E336G	probably benign	Het
Cap2	A	G	13: 46,800,051 (GRCm39)	H419R	probably damaging	Het
Ccdc14	T	A	16: 34,544,206 (GRCm39)	S903T	probably damaging	Het
Cep72	A	T	13: 74,198,241 (GRCm39)	S380T	possibly damaging	Het
Clca3a2	C	A	3: 144,516,574 (GRCm39)	E341*	probably null	Het
Clcnkb	T	G	4: 141,137,915 (GRCm39)	I294L	probably benign	Het
Csnk2a1-ps3	G	A	1: 156,352,965 (GRCm39)	A389T	probably benign	Het
Cyp2d9	T	A	15: 82,340,027 (GRCm39)	M350K	probably damaging	Het
Dhx40	T	G	11: 86,689,793 (GRCm39)	I266L	probably benign	Het
Dnah5	G	T	15: 28,448,560 (GRCm39)	E4208*	probably null	Het
Dync2i1	T	A	12: 116,219,559 (GRCm39)	K128*	probably null	Het
Ephb2	T	C	4: 136,498,353 (GRCm39)	N242S	probably damaging	Het
Fam13b	A	T	18: 34,590,744 (GRCm39)	F478Y	probably benign	Het
Fastkd2	C	G	1: 63,774,619 (GRCm39)		probably null	Het
Fbxo40	T	A	16: 36,790,012 (GRCm39)	D366V	probably damaging	Het
Fhod3	A	T	18: 24,903,551 (GRCm39)	K95M	probably damaging	Het
Foxo3	T	A	10: 42,151,023 (GRCm39)	Q136L	probably benign	Het
Gadl1	A	T	9: 115,783,883 (GRCm39)	Q236L	possibly damaging	Het
Galnt13	A	G	2: 55,002,873 (GRCm39)	D560G	probably benign	Het
Ghsr	A	G	3: 27,426,315 (GRCm39)	S124G	probably benign	Het
Gkn2	A	G	6: 87,355,268 (GRCm39)		probably null	Het
Glyctk	T	A	9: 106,033,638 (GRCm39)	R68W	unknown	Het
Gm5157	G	A	7: 20,918,641 (GRCm39)	P301S	unknown	Het
Hdc	A	T	2: 126,458,130 (GRCm39)	I64N	probably damaging	Het
Helq	A	T	5: 100,940,427 (GRCm39)		probably null	Het
Ighv1-43	T	C	12: 114,909,583 (GRCm39)	Y113C	probably damaging	Het
Ipo9	T	C	1: 135,334,591 (GRCm39)	T273A	probably benign	Het
Itga4	G	A	2: 79,146,389 (GRCm39)	V774I	probably benign	Het
Itpr3	T	C	17: 27,335,751 (GRCm39)	L2287P	probably damaging	Het
Llgl1	T	A	11: 60,598,138 (GRCm39)	I394N	probably damaging	Het
Mta1	G	A	12: 113,095,308 (GRCm39)	R487H	probably benign	Het
Neb	T	C	2: 52,037,681 (GRCm39)	D7049G	probably benign	Het
Nlrp4f	G	A	13: 65,342,832 (GRCm39)	S271F	probably damaging	Het
Noxo1	A	G	17: 24,918,356 (GRCm39)	D172G	probably damaging	Het
Nup155	T	A	15: 8,150,991 (GRCm39)	V347E	probably damaging	Het
Oaf	G	T	9: 43,133,968 (GRCm39)	A251E	possibly damaging	Het
Pds5b	T	A	5: 150,715,637 (GRCm39)	F1039I	probably damaging	Het
Pla2g12b	T	A	10: 59,257,062 (GRCm39)		probably null	Het
Prmt3	A	G	7: 49,437,049 (GRCm39)	D208G	possibly damaging	Het
Ptcd3	G	A	6: 71,865,592 (GRCm39)	T441M	probably damaging	Het
Rabl6	A	G	2: 25,474,786 (GRCm39)		probably null	Het
Shtn1	T	A	19: 58,992,328 (GRCm39)	I417F	probably damaging	Het
Slc20a2	T	C	8: 23,030,417 (GRCm39)	S158P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spef2	T	C	15: 9,717,649 (GRCm39)	Y232C	probably damaging	Het
Stard9	C	T	2: 120,534,942 (GRCm39)	T3733I	probably benign	Het
Thrap3	A	T	4: 126,071,855 (GRCm39)	F512L	probably benign	Het
Tmem150c	A	T	5: 100,240,963 (GRCm39)	I30K	probably damaging	Het
Tnnt1	C	T	7: 4,511,582 (GRCm39)	A168T	probably damaging	Het
Trak2	A	G	1: 58,957,983 (GRCm39)	L308P	probably damaging	Het
Usp16	T	C	16: 87,271,472 (GRCm39)	Y344H	probably benign	Het
Vinac1	T	C	2: 128,878,914 (GRCm39)	E1004G	unknown	Het
Xrcc5	G	T	1: 72,395,985 (GRCm39)	V593L	probably benign	Het
Zcchc14	A	T	8: 122,331,634 (GRCm39)	H576Q	unknown	Het
Zfp616	T	A	11: 73,976,271 (GRCm39)	C847S	probably damaging	Het
Zfp626	A	T	7: 27,518,924 (GRCm39)	Y635F	probably benign	Het
Zfp799	G	A	17: 33,038,473 (GRCm39)	R598*	probably null	Het
Zfp831	A	G	2: 174,487,097 (GRCm39)	K591E	possibly damaging	Het

Other mutations in Trp53i11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0011:Trp53i11	UTSW	2	93,029,698 (GRCm39)	unclassified	probably benign
R0011:Trp53i11	UTSW	2	93,029,698 (GRCm39)	unclassified	probably benign
R0137:Trp53i11	UTSW	2	93,029,696 (GRCm39)	unclassified	probably benign
R0148:Trp53i11	UTSW	2	93,028,080 (GRCm39)	missense	probably damaging	1.00
R0759:Trp53i11	UTSW	2	93,029,303 (GRCm39)	missense	possibly damaging	0.80
R4700:Trp53i11	UTSW	2	93,030,245 (GRCm39)	missense	probably damaging	1.00
R5451:Trp53i11	UTSW	2	93,030,200 (GRCm39)	missense	possibly damaging	0.85
R5466:Trp53i11	UTSW	2	93,029,728 (GRCm39)	missense	possibly damaging	0.51
R5626:Trp53i11	UTSW	2	93,029,723 (GRCm39)	missense	possibly damaging	0.95
R6709:Trp53i11	UTSW	2	93,030,163 (GRCm39)	missense	probably benign
R9367:Trp53i11	UTSW	2	93,029,273 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- CACTCTGAGGCCCATACTTCAG -3'
(R):5'- GCAGTGAACCAACTACATGC -3'

Sequencing Primer
(F):5'- TACTTCAGGGTCTAGGCCAAC -3'
(R):5'- CATTCTAGCAATGGCCACAAGGTG -3'

Posted On

2019-12-20