Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Tipin'

229426

Institutional Source

Beutler Lab

Gene Symbol

Tipin

Ensembl Gene

ENSMUSG00000032397

Gene Name

timeless interacting protein

Synonyms

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.514) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64281581-64305424 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 64290376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 69 (L69*)

Ref Sequence

ENSEMBL: ENSMUSP00000149833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034964] [ENSMUST00000213165] [ENSMUST00000213289] [ENSMUST00000215031] [ENSMUST00000216594]

AlphaFold

Q91WA1

Predicted Effect

probably null
Transcript: ENSMUST00000034964
AA Change: L69*

SMART Domains

Protein: ENSMUSP00000034964
Gene: ENSMUSG00000032397
AA Change: L69*

Domain	Start	End	E-Value	Type
low complexity region	19	43	N/A	INTRINSIC
Pfam:Swi3	63	143	2.8e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000213165
AA Change: L69*

Predicted Effect

probably null
Transcript: ENSMUST00000213289
AA Change: L69*

Predicted Effect

probably null
Transcript: ENSMUST00000215031
AA Change: L69*

Predicted Effect

probably null
Transcript: ENSMUST00000216594
AA Change: L69*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: The protein encoded by this gene is part of the replisome complex, a group of proteins that support DNA replication. It binds TIM and aids in protecting cells against DNA damage and stress. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148	A123V	probably benign	Het
Car6	T	C	4: 150,198,141	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419		probably benign	Het
Gm1527	T	A	3: 28,926,661	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941		probably null	Het
Naip5	A	G	13: 100,221,533	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219		probably benign	Het
Nemf	A	G	12: 69,353,786		probably benign	Het
Nfil3	A	T	13: 52,968,033	D278E	possibly damaging	Het
Nup98	T	C	7: 102,180,424	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013		probably benign	Het
Ppm1f	T	A	16: 16,923,880	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505	T743A	possibly damaging	Het
Tlk1	T	A	2: 70,738,445	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667	D480A	probably damaging	Het

Other mutations in Tipin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01457:Tipin	APN	9	64304408	missense	probably benign
IGL02164:Tipin	APN	9	64294349	missense	probably damaging	0.99
IGL02431:Tipin	APN	9	64301185	missense	probably benign	0.42
IGL03355:Tipin	APN	9	64288124	missense	probably benign	0.29
R0410:Tipin	UTSW	9	64288115	start codon destroyed	probably null	1.00
R2870:Tipin	UTSW	9	64304327	missense	probably benign	0.01
R2870:Tipin	UTSW	9	64304327	missense	probably benign	0.01
R4552:Tipin	UTSW	9	64288103	splice site	probably null
R4553:Tipin	UTSW	9	64288103	splice site	probably null
R4812:Tipin	UTSW	9	64304412	missense	probably benign
R7330:Tipin	UTSW	9	64288226	missense	probably benign
R8985:Tipin	UTSW	9	64288103	splice site	probably null
R9224:Tipin	UTSW	9	64288148	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- ACTATCACGGTCTTTGGTGG -3'
(R):5'- AGGATGGGATGTACTCCAGTAATAC -3'

Sequencing Primer
(F):5'- CATCAGATCCCATTACAGGTGGTTG -3'
(R):5'- CTCCAGTAATACTGTTTAGCATGGG -3'

Posted On

2014-09-17