Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Trp53i13'

406002

Institutional Source

Beutler Lab

Gene Symbol

Trp53i13

Ensembl Gene

ENSMUSG00000044328

Gene Name

transformation related protein 53 inducible protein 13

Synonyms

2410019G02Rik

MMRRC Submission

042902-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77398925-77404214 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77399566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 254 (N254K)

Ref Sequence

ENSEMBL: ENSMUSP00000057592 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037285] [ENSMUST00000060417] [ENSMUST00000100812]

AlphaFold

Q5F267

Predicted Effect

probably benign
Transcript: ENSMUST00000037285

SMART Domains

Protein: ENSMUSP00000037210
Gene: ENSMUSG00000011877

Domain	Start	End	E-Value	Type
ArfGap	1	124	1.82e-45	SMART
ANK	132	161	2.55e2	SMART
ANK	166	195	2.47e0	SMART
ANK	199	228	4.6e0	SMART
GIT	273	303	1.01e-10	SMART
GIT	337	367	1.99e-9	SMART
Pfam:GIT_CC	418	483	8.6e-34	PFAM
Pfam:GIT1_C	647	763	3.2e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000060417
AA Change: N254K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057592
Gene: ENSMUSG00000044328
AA Change: N254K

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	77	90	N/A	INTRINSIC
low complexity region	130	139	N/A	INTRINSIC
low complexity region	188	205	N/A	INTRINSIC
low complexity region	222	236	N/A	INTRINSIC
low complexity region	281	299	N/A	INTRINSIC
transmembrane domain	303	325	N/A	INTRINSIC
low complexity region	350	375	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100812

SMART Domains

Protein: ENSMUSP00000098375
Gene: ENSMUSG00000011877

Domain	Start	End	E-Value	Type
ArfGap	1	124	1.82e-45	SMART
ANK	132	161	2.55e2	SMART
ANK	166	195	2.47e0	SMART
ANK	199	228	4.6e0	SMART
GIT	264	294	1.01e-10	SMART
GIT	328	358	1.99e-9	SMART
PDB:2W6A\|B	417	473	3e-28	PDB
low complexity region	474	484	N/A	INTRINSIC
Pfam:GIT1_C	632	756	4.9e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127302

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128796

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139195

Predicted Effect

probably benign
Transcript: ENSMUST00000136101

SMART Domains

Protein: ENSMUSP00000122898
Gene: ENSMUSG00000044328

Domain	Start	End	E-Value	Type
low complexity region	114	127	N/A	INTRINSIC
low complexity region	167	176	N/A	INTRINSIC

Meta Mutation Damage Score

0.0823

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,441,506 (GRCm39)	S218P	probably benign	Het
Ahctf1	A	C	1: 179,596,615 (GRCm39)	S121A	probably damaging	Het
Anpep	C	T	7: 79,491,479 (GRCm39)	R174H	probably benign	Het
Arhgef18	T	C	8: 3,435,010 (GRCm39)		probably null	Het
Becn1	A	G	11: 101,179,629 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,561,549 (GRCm39)	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,324,213 (GRCm39)		probably null	Het
Ccdc14	T	G	16: 34,543,542 (GRCm39)	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,177,489 (GRCm39)	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,630,940 (GRCm39)	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,360,620 (GRCm39)	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,718,762 (GRCm39)	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,338,256 (GRCm39)	Y127H	probably damaging	Het
Dnajc11	A	G	4: 152,052,983 (GRCm39)	T98A	probably damaging	Het
Dst	T	C	1: 34,265,058 (GRCm39)	S4757P	possibly damaging	Het
Dvl2	C	T	11: 69,898,957 (GRCm39)	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,512,496 (GRCm39)		noncoding transcript	Het
Efl1	G	T	7: 82,323,714 (GRCm39)	D219Y	probably damaging	Het
Epha10	T	A	4: 124,807,793 (GRCm39)		probably benign	Het
Fbxw22	T	A	9: 109,213,015 (GRCm39)	T311S	possibly damaging	Het
Folr1	T	A	7: 101,513,184 (GRCm39)	D37V	probably damaging	Het
Fshb	T	A	2: 106,889,224 (GRCm39)	I27F	probably damaging	Het
Gm8521	A	T	Y: 3,859,335 (GRCm39)		noncoding transcript	Het
Gpr45	T	C	1: 43,071,998 (GRCm39)	S214P	probably damaging	Het
Hgf	G	A	5: 16,771,860 (GRCm39)		probably null	Het
Hs6st1	T	C	1: 36,143,259 (GRCm39)	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,321,646 (GRCm39)	V371A	probably damaging	Het
Kif18a	T	A	2: 109,148,370 (GRCm39)	N621K	probably benign	Het
Lama5	A	G	2: 179,822,911 (GRCm39)	F2785S	probably damaging	Het
Lcor	G	A	19: 41,574,791 (GRCm39)	G1182D	probably damaging	Het
Lrriq3	T	C	3: 154,835,108 (GRCm39)	I281T	possibly damaging	Het
Macf1	C	T	4: 123,367,229 (GRCm39)	A2511T	probably damaging	Het
Mark4	T	C	7: 19,170,886 (GRCm39)	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,552,852 (GRCm39)	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,710,205 (GRCm39)	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197 (GRCm38)	S272P	probably benign	Het
Nsrp1	T	C	11: 76,940,293 (GRCm39)	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,863 (GRCm39)	S64T	probably benign	Het
Or2aa1	A	T	11: 59,480,477 (GRCm39)	V146E	probably damaging	Het
Or4c106	T	A	2: 88,683,122 (GRCm39)	I276K	probably damaging	Het
Or7g25	C	T	9: 19,160,329 (GRCm39)	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,278,985 (GRCm39)		probably benign	Het
Phox2a	C	T	7: 101,470,057 (GRCm39)	T96M	probably damaging	Het
Plg	A	G	17: 12,622,114 (GRCm39)	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,486,983 (GRCm39)	T517S	probably benign	Het
Ptk7	C	T	17: 46,883,603 (GRCm39)	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,709,913 (GRCm39)	V2M	probably benign	Het
Rgl2	T	C	17: 34,152,529 (GRCm39)	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,018,591 (GRCm39)	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,492,351 (GRCm39)	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,073,072 (GRCm39)	V640A	probably benign	Het
Simc1	T	A	13: 54,672,795 (GRCm39)	V381E	probably benign	Het
Slc15a3	A	T	19: 10,833,296 (GRCm39)	T438S	probably damaging	Het
Slc5a4b	C	T	10: 75,898,233 (GRCm39)	V494M	probably benign	Het
Sos2	C	A	12: 69,674,058 (GRCm39)	R335L	probably benign	Het
Trpc6	A	G	9: 8,609,922 (GRCm39)	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,130,415 (GRCm39)	I174V	probably damaging	Het
Tsnax	T	A	8: 125,742,458 (GRCm39)	D62E	probably damaging	Het
Vezt	T	A	10: 93,806,193 (GRCm39)	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,457,209 (GRCm39)	I184F	probably damaging	Het
Yeats2	T	C	16: 20,005,175 (GRCm39)	V385A	probably benign	Het

Other mutations in Trp53i13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Trp53i13	APN	11	77,399,083 (GRCm39)	unclassified	probably benign
IGL02892:Trp53i13	APN	11	77,399,121 (GRCm39)	missense	probably damaging	0.98
IGL03180:Trp53i13	APN	11	77,403,528 (GRCm39)	unclassified	probably benign
R5566:Trp53i13	UTSW	11	77,399,552 (GRCm39)	missense	probably damaging	0.99
R5631:Trp53i13	UTSW	11	77,400,419 (GRCm39)	splice site	probably null
R7585:Trp53i13	UTSW	11	77,399,129 (GRCm39)	missense	possibly damaging	0.94
R7812:Trp53i13	UTSW	11	77,399,666 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGCAAAGTGTGGCCAAGGTG -3'
(R):5'- AGGTGACATCTAGAGGATCCGG -3'

Sequencing Primer
(F):5'- TGTGGCCAAGGTGAGCAG -3'
(R):5'- ATCTAGAGGATCCGGGCGGTC -3'

Posted On

2016-07-22