Mutagenetix > Incidental Mutation

Incidental Mutation 'R9683:Tiprl'

728664

Institutional Source

Beutler Lab

Gene Symbol

Tiprl

Ensembl Gene

ENSMUSG00000040843

Gene Name

TIP41, TOR signalling pathway regulator-like (S. cerevisiae)

Synonyms

1810011K17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165039855-165064565 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165050147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 156 (F156S)

Ref Sequence

ENSEMBL: ENSMUSP00000037514 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043235] [ENSMUST00000192436] [ENSMUST00000195248]

AlphaFold

Q8BH58

Predicted Effect

probably damaging
Transcript: ENSMUST00000043235
AA Change: F156S

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

SMART Domains

Protein: ENSMUSP00000037514
Gene: ENSMUSG00000040843
AA Change: F156S

Domain	Start	End	E-Value	Type
Pfam:TIP41	48	225	1.7e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000192436

Predicted Effect

probably benign
Transcript: ENSMUST00000195248

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TIPRL is an inhibitory regulator of protein phosphatase-2A (PP2A) (see PPP2CA; MIM 176915), PP4 (see PPP4C; MIM 602035), and PP6 (see PPP6C; MIM 612725) (McConnell et al., 2007 [PubMed 17384681]).[supplied by OMIM, Nov 2010]

Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	C	T	3: 124,200,095 (GRCm39)	G499D	probably benign	Het
Acr	T	A	15: 89,457,440 (GRCm39)	Y229*	probably null	Het
Adam6b	G	T	12: 113,454,176 (GRCm39)	C331F	probably benign	Het
Ahnak	T	C	19: 8,984,719 (GRCm39)	V2001A	possibly damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Anln	A	T	9: 22,283,536 (GRCm39)	C432*	probably null	Het
Aox4	T	C	1: 58,278,462 (GRCm39)		probably null	Het
Astn1	A	G	1: 158,491,619 (GRCm39)	I1007V	possibly damaging	Het
Bicral	T	C	17: 47,122,944 (GRCm39)	D649G	possibly damaging	Het
C1qbp	G	A	11: 70,873,749 (GRCm39)	R10C	probably damaging	Het
Cass4	C	T	2: 172,268,656 (GRCm39)	P246L	probably damaging	Het
Celsr3	T	A	9: 108,704,522 (GRCm39)	V335E	probably damaging	Het
Cfap52	T	A	11: 67,822,639 (GRCm39)	T411S	probably benign	Het
Cnot6	A	T	11: 49,580,164 (GRCm39)	L43I	possibly damaging	Het
Col9a3	G	A	2: 180,248,322 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,426,509 (GRCm39)	R210G	probably benign	Het
Fat4	A	G	3: 38,943,332 (GRCm39)	S742G	possibly damaging	Het
Fbn2	C	T	18: 58,186,099 (GRCm39)	V1750M	probably benign	Het
Glrx2	A	G	1: 143,622,292 (GRCm39)	D96G	probably damaging	Het
Gm8369	T	C	19: 11,489,097 (GRCm39)	L128P	probably damaging	Het
Gpr155	A	G	2: 73,192,780 (GRCm39)	I585T	probably benign	Het
Heatr1	T	C	13: 12,449,140 (GRCm39)	S1907P	probably damaging	Het
Hscb	T	C	5: 110,983,881 (GRCm39)	T129A	possibly damaging	Het
Itgb5	T	A	16: 33,740,335 (GRCm39)	Y482N	probably damaging	Het
Kmt5b	T	A	19: 3,865,587 (GRCm39)	*884R	probably null	Het
L3mbtl1	A	T	2: 162,812,228 (GRCm39)	T758S	possibly damaging	Het
Mindy1	A	T	3: 95,202,176 (GRCm39)	H351L	probably benign	Het
Mmel1	A	T	4: 154,977,285 (GRCm39)	I552F	probably damaging	Het
Mos	T	C	4: 3,871,186 (GRCm39)	D210G	probably benign	Het
Npl	A	C	1: 153,421,030 (GRCm39)	I16S	possibly damaging	Het
Nutm2	C	A	13: 50,629,017 (GRCm39)	P694T	possibly damaging	Het
Or1e1c	G	A	11: 73,265,811 (GRCm39)	V82I	probably damaging	Het
Or52ae7	A	G	7: 103,119,157 (GRCm39)		probably benign	Het
Plekhg4	T	C	8: 106,102,923 (GRCm39)	F261L	probably benign	Het
Ppfia3	T	A	7: 45,005,999 (GRCm39)	N331I	probably benign	Het
Ppp1r12a	T	A	10: 108,096,747 (GRCm39)	S712R	possibly damaging	Het
Psg20	T	A	7: 18,416,508 (GRCm39)	K203*	probably null	Het
Recql	C	T	6: 142,305,646 (GRCm39)	R234Q		Het
Rerg	A	G	6: 137,033,252 (GRCm39)	F160S	probably damaging	Het
Rp1l1	A	G	14: 64,269,126 (GRCm39)	K1571E	probably damaging	Het
Rsrc1	T	A	3: 67,257,328 (GRCm39)	S247T	probably damaging	Het
Sacs	T	A	14: 61,450,881 (GRCm39)	I4309N	possibly damaging	Het
Setd7	A	T	3: 51,450,111 (GRCm39)	I105N	possibly damaging	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Siglec1	T	A	2: 130,921,236 (GRCm39)	H645L	probably damaging	Het
Slain1	A	T	14: 103,925,621 (GRCm39)	D323V	probably damaging	Het
Slc25a10	A	G	11: 120,386,312 (GRCm39)	N139D	probably damaging	Het
Slc9a9	T	G	9: 94,552,235 (GRCm39)	F41V	probably damaging	Het
Spag9	A	C	11: 93,988,568 (GRCm39)	E879D	probably damaging	Het
Tdrd7	T	A	4: 46,025,946 (GRCm39)	L922Q	probably damaging	Het
Tmem185b	G	C	1: 119,454,748 (GRCm39)	V170L	probably damaging	Het
Top2a	G	A	11: 98,887,683 (GRCm39)	T1275I	probably benign	Het
Tpp1	A	G	7: 105,398,104 (GRCm39)	L353P	probably damaging	Het
Twnk	T	A	19: 44,998,622 (GRCm39)	H513Q	probably damaging	Het
Ubr5	C	T	15: 37,978,271 (GRCm39)	V2467I		Het
Vmn2r16	T	A	5: 109,511,677 (GRCm39)	I628N	probably damaging	Het
Zan	T	C	5: 137,462,776 (GRCm39)	E801G	unknown	Het
Zfp810	T	C	9: 22,189,799 (GRCm39)	R370G	possibly damaging	Het
Zfp955a	A	G	17: 33,461,587 (GRCm39)	S182P	probably benign	Het
Znrf3	T	C	11: 5,394,465 (GRCm39)	T72A	possibly damaging	Het

Other mutations in Tiprl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02970:Tiprl	APN	1	165,064,315 (GRCm39)	missense	probably damaging	1.00
3-1:Tiprl	UTSW	1	165,043,397 (GRCm39)	missense	possibly damaging	0.80
R0471:Tiprl	UTSW	1	165,050,092 (GRCm39)	splice site	probably null
R0647:Tiprl	UTSW	1	165,050,092 (GRCm39)	splice site	probably null
R1413:Tiprl	UTSW	1	165,043,359 (GRCm39)	missense	possibly damaging	0.71
R1536:Tiprl	UTSW	1	165,055,975 (GRCm39)	missense	probably benign	0.00
R4232:Tiprl	UTSW	1	165,050,156 (GRCm39)	missense	probably damaging	0.99
R4997:Tiprl	UTSW	1	165,047,759 (GRCm39)	missense	possibly damaging	0.53
R5238:Tiprl	UTSW	1	165,043,337 (GRCm39)	missense	probably benign
R7972:Tiprl	UTSW	1	165,064,543 (GRCm39)	unclassified	probably benign
R8114:Tiprl	UTSW	1	165,055,991 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TCCATCCAACATGCTACCTG -3'
(R):5'- GGCAAATGTGAATACCGATGC -3'

Sequencing Primer
(F):5'- GCTACCTGCAGATTCTACAAATATC -3'
(R):5'- GCAAATGTGAATACCGATGCTATGC -3'

Posted On

2022-10-06