Mutagenetix > Incidental Mutation

Incidental Mutation 'R8734:Trnp1'

679798

Institutional Source

Beutler Lab

Gene Symbol

Trnp1

Ensembl Gene

ENSMUSG00000056596

Gene Name

TMF1-regulated nuclear protein 1

Synonyms

2300002D11Rik

MMRRC Submission

068582-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8734 (G1)

Quality Score

65.0073

Status

Validated

Chromosome

Chromosomal Location

133218411-133225861 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133225380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 130 (F130S)

Ref Sequence

ENSEMBL: ENSMUSP00000129613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000125541]

AlphaFold

Q80ZI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125541
AA Change: F130S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129613
Gene: ENSMUSG00000056596
AA Change: F130S

Domain	Start	End	E-Value	Type
low complexity region	20	54	N/A	INTRINSIC
low complexity region	72	124	N/A	INTRINSIC
low complexity region	131	144	N/A	INTRINSIC
low complexity region	164	189	N/A	INTRINSIC

Meta Mutation Damage Score

0.2871

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,770,855 (GRCm39)	C5S	probably damaging	Het
Actl6a	G	A	3: 32,774,104 (GRCm39)	D275N	probably benign	Het
Ahctf1	C	A	1: 179,608,430 (GRCm39)	E681*	probably null	Het
Ankub1	G	A	3: 57,599,706 (GRCm39)	S21L	probably benign	Het
Apmap	T	A	2: 150,430,824 (GRCm39)	K178N	probably benign	Het
Arhgap15	T	A	2: 44,133,130 (GRCm39)	N345K	probably damaging	Het
Armc8	A	G	9: 99,402,538 (GRCm39)	V379A	probably benign	Het
Atmin	G	A	8: 117,681,525 (GRCm39)	D175N	possibly damaging	Het
Atp5pd	T	C	11: 115,307,689 (GRCm39)	E94G	possibly damaging	Het
B3gnt3	G	A	8: 72,146,145 (GRCm39)	T128M	probably damaging	Het
Ccdc88c	T	A	12: 100,906,394 (GRCm39)	T1040S	probably damaging	Het
Crot	C	T	5: 9,028,208 (GRCm39)	R247Q	probably benign	Het
Cyp2b9	A	G	7: 25,898,035 (GRCm39)		probably benign	Het
Dcaf8	T	C	1: 172,021,427 (GRCm39)	W540R	probably benign	Het
Galnt11	T	C	5: 25,455,222 (GRCm39)	I186T	possibly damaging	Het
Gne	T	A	4: 44,072,911 (GRCm39)		probably benign	Het
Gpr37	A	T	6: 25,688,201 (GRCm39)	F299I	probably benign	Het
Gpr37l1	C	T	1: 135,095,167 (GRCm39)	A26T	probably benign	Het
Grm4	A	G	17: 27,657,765 (GRCm39)	Y414H	probably damaging	Het
Kcnh1	T	C	1: 192,188,320 (GRCm39)	I954T	possibly damaging	Het
Lias	T	C	5: 65,561,552 (GRCm39)	Y308H	probably damaging	Het
Lrrc27	T	A	7: 138,796,515 (GRCm39)		probably benign	Het
Lrrc8a	C	T	2: 30,146,619 (GRCm39)	H478Y	probably benign	Het
Mdh2	T	A	5: 135,812,983 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,848,340 (GRCm39)	I688K	probably benign	Het
Nrp1	A	G	8: 129,207,420 (GRCm39)	D605G	probably benign	Het
Nt5dc3	A	G	10: 86,669,863 (GRCm39)	Y486C	possibly damaging	Het
Or5m13	T	A	2: 85,748,993 (GRCm39)	C241*	probably null	Het
Or8s16	A	T	15: 98,210,954 (GRCm39)	L159H	probably damaging	Het
Or9s23	T	A	1: 92,501,121 (GRCm39)	V76D	possibly damaging	Het
Pam	A	T	1: 97,762,127 (GRCm39)		probably benign	Het
Pcolce	A	G	5: 137,609,550 (GRCm39)	L14P	probably damaging	Het
Pcsk6	T	C	7: 65,581,481 (GRCm39)	I254T	probably benign	Het
Pdzrn3	A	T	6: 101,128,567 (GRCm39)	C700S	probably damaging	Het
Pglyrp2	A	G	17: 32,634,976 (GRCm39)	F462S	probably damaging	Het
Plaat3	T	A	19: 7,552,347 (GRCm39)	Y21N	possibly damaging	Het
Plekhm1	A	T	11: 103,285,778 (GRCm39)	L219Q	probably damaging	Het
Prkch	T	A	12: 73,632,018 (GRCm39)	S28T	possibly damaging	Het
Prrc2c	A	T	1: 162,507,081 (GRCm39)	S2529R	possibly damaging	Het
Prss3	G	T	6: 41,350,827 (GRCm39)	A221D	probably damaging	Het
Rbm33	T	A	5: 28,557,874 (GRCm39)		probably benign	Het
Retreg1	T	C	15: 25,968,493 (GRCm39)	L83S	probably damaging	Het
Robo2	C	T	16: 73,764,651 (GRCm39)		probably benign	Het
Slc25a47	T	A	12: 108,820,247 (GRCm39)	F84I	probably benign	Het
Sntb2	A	G	8: 107,728,320 (GRCm39)	I423V	probably benign	Het
Spart	A	T	3: 55,032,300 (GRCm39)	D378V	possibly damaging	Het
Spint2	A	T	7: 28,958,835 (GRCm39)	F127Y	probably damaging	Het
Stag3	A	G	5: 138,310,050 (GRCm39)	T1233A	probably benign	Het
Tenm3	A	G	8: 48,802,391 (GRCm39)	I390T	probably benign	Het
Tigd2	A	G	6: 59,187,184 (GRCm39)	D17G	probably damaging	Het
Tln2	C	A	9: 67,179,936 (GRCm39)	A812S	probably benign	Het
Tmem234	A	G	4: 129,501,317 (GRCm39)	T133A	probably benign	Het
Tsr1	A	G	11: 74,794,652 (GRCm39)	S436G	probably benign	Het
Ttn	T	C	2: 76,541,032 (GRCm39)	I33985V	probably benign	Het
Usp34	A	C	11: 23,394,184 (GRCm39)	D2278A		Het
Vav3	T	A	3: 109,565,285 (GRCm39)	F727Y	probably benign	Het
Vcl	T	C	14: 21,060,236 (GRCm39)		probably null	Het
Vps13c	T	A	9: 67,880,685 (GRCm39)	D3507E	probably damaging	Het
Vtn	A	G	11: 78,391,090 (GRCm39)		probably benign	Het
Zfp319	A	G	8: 96,054,938 (GRCm39)	S422P	possibly damaging	Het

Other mutations in Trnp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7217:Trnp1	UTSW	4	133,225,416 (GRCm39)	missense	possibly damaging	0.82
R7822:Trnp1	UTSW	4	133,225,350 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- CGTAGATGACGCCGTCCATC -3'
(R):5'- TAAGTCACCGCCCTTACCCG -3'

Sequencing Primer
(F):5'- TCCATCTGGCCAGCACCTG -3'
(R):5'- CCGAGACACCCGTGGAAG -3'

Posted On

2021-08-30