Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Gm44501'

576350

Institutional Source

Beutler Lab

Gene Symbol

Gm44501

Ensembl Gene

ENSMUSG00000090897

Gene Name

predicted readthrough transcript, 44501

Synonyms

Esp6Esp5

MMRRC Submission

045507-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40872398-40890440 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40887517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 12 (T12A)

Ref Sequence

ENSEMBL: ENSMUSP00000128205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000167713]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000167713
AA Change: T12A

SMART Domains

Protein: ENSMUSP00000128205
Gene: ENSMUSG00000090897
AA Change: T12A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ESP	24	84	2e-24	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: This locus represents naturally occurring readthrough transcription between the neighboring Esp6 (exocrine gland secreted peptide 6) and Esp5 (exocrine gland secreted peptide 5) genes on chromosome 17. The readthrough transcript encodes a protein that shares sequence identity with the downstream gene product, but is shorter at its N-terminus. [provided by RefSeq, Dec 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,859,028 (GRCm39)	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,634,445 (GRCm39)	D20G	possibly damaging	Het
Aadacl4fm2	T	A	4: 144,291,626 (GRCm39)	I27F	probably benign	Het
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Ankle2	C	T	5: 110,382,384 (GRCm39)	T120I	possibly damaging	Het
Ap2b1	C	T	11: 83,258,824 (GRCm39)	T765I	probably benign	Het
Atp8b4	A	T	2: 126,245,291 (GRCm39)	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,892,084 (GRCm39)	L126P	probably damaging	Het
Btbd7	T	C	12: 102,804,039 (GRCm39)	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,942 (GRCm39)	V216A	possibly damaging	Het
Chka	A	G	19: 3,942,787 (GRCm39)	Y415C	probably damaging	Het
Cnih1	C	T	14: 47,017,679 (GRCm39)	V52I	possibly damaging	Het
Cox4i1	T	A	8: 121,400,770 (GRCm39)	M145K	probably damaging	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,550,341 (GRCm39)	E692G	probably damaging	Het
Dido1	G	A	2: 180,331,319 (GRCm39)	T43M	possibly damaging	Het
Edc4	T	C	8: 106,618,216 (GRCm39)	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,587,848 (GRCm39)	H14Q	probably benign	Het
Etaa1	C	T	11: 17,890,281 (GRCm39)	R860Q	probably damaging	Het
Fam181b	G	A	7: 92,729,403 (GRCm39)	V59M	probably benign	Het
Fam184b	G	A	5: 45,698,230 (GRCm39)	T655I	probably benign	Het
Fcgr3	A	G	1: 170,885,442 (GRCm39)	M61T	probably benign	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Frmd3	A	G	4: 74,063,342 (GRCm39)	D223G	probably damaging	Het
Galnt4	A	G	10: 98,945,610 (GRCm39)	H445R	probably damaging	Het
Hnrnpll	T	A	17: 80,357,276 (GRCm39)	I247F	probably damaging	Het
Hs3st4	T	C	7: 123,996,605 (GRCm39)	F424L	probably damaging	Het
Ifi206	A	T	1: 173,308,157 (GRCm39)	V613E		Het
Insig1	T	C	5: 28,280,077 (GRCm39)	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,401,188 (GRCm39)	E500K	probably benign	Het
Itgav	G	A	2: 83,624,602 (GRCm39)	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,014,194 (GRCm39)		probably null	Het
Mark4	C	A	7: 19,160,092 (GRCm39)	G723C	probably damaging	Het
Marveld3	A	G	8: 110,675,100 (GRCm39)	S239P	possibly damaging	Het
Mast3	A	C	8: 71,232,947 (GRCm39)	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,535,297 (GRCm39)	I198M	probably benign	Het
Mup14	C	T	4: 61,259,447 (GRCm39)	G35E	probably damaging	Het
Myo1a	T	A	10: 127,542,716 (GRCm39)	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,835,035 (GRCm39)	T794A	probably benign	Het
Or1p1c	T	A	11: 74,160,579 (GRCm39)	D121E	probably damaging	Het
Or51g2	A	T	7: 102,622,969 (GRCm39)	S77T	probably damaging	Het
Or7g16	T	C	9: 18,726,650 (GRCm39)	*313W	probably null	Het
Pde6c	T	A	19: 38,129,887 (GRCm39)	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,689,680 (GRCm39)	L435P	probably damaging	Het
Pgm1	T	A	4: 99,813,192 (GRCm39)	M1K	probably null	Het
Plcb4	T	C	2: 135,810,242 (GRCm39)	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,386,739 (GRCm39)	N517D	probably damaging	Het
Rpap3	A	T	15: 97,586,031 (GRCm39)	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,737,654 (GRCm39)	W576R	probably damaging	Het
Scarb2	T	C	5: 92,633,093 (GRCm39)	I80V	probably benign	Het
Serpinc1	A	G	1: 160,823,011 (GRCm39)	T251A	probably benign	Het
Sgk3	A	G	1: 9,942,483 (GRCm39)	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,086,631 (GRCm39)	D653G	probably benign	Het
Slc2a1	A	G	4: 118,993,510 (GRCm39)	Y449C	probably damaging	Het
Snx13	T	C	12: 35,183,357 (GRCm39)	V760A	possibly damaging	Het
Snx7	T	C	3: 117,630,861 (GRCm39)	N249S	probably benign	Het
Soat2	C	A	15: 102,062,735 (GRCm39)	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,857,241 (GRCm39)		probably null	Het
Syne2	C	T	12: 75,980,770 (GRCm39)	T1509M	probably damaging	Het
Syne2	T	A	12: 76,087,184 (GRCm39)	L214*	probably null	Het
Taok2	T	C	7: 126,469,849 (GRCm39)	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,430,866 (GRCm39)		probably null	Het
Tspan17	G	A	13: 54,943,785 (GRCm39)	E213K	probably benign	Het
Ttc6	T	A	12: 57,704,888 (GRCm39)	I631N	probably benign	Het
Ttn	T	A	2: 76,641,283 (GRCm39)	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,262,815 (GRCm39)	E12G	probably benign	Het
Usp39	T	C	6: 72,319,900 (GRCm39)	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,310,603 (GRCm39)	F301V	probably benign	Het
Zbp1	T	A	2: 173,055,611 (GRCm39)	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139 (GRCm39)	V273A	probably benign	Het
Zswim5	A	G	4: 116,833,054 (GRCm39)	T596A	possibly damaging	Het

Other mutations in Gm44501

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0141:Gm44501	UTSW	17	40,889,744 (GRCm39)	missense	probably benign	0.01
R2420:Gm44501	UTSW	17	40,889,600 (GRCm39)	missense	possibly damaging	0.93
R3727:Gm44501	UTSW	17	40,887,506 (GRCm39)	missense	unknown
R4484:Gm44501	UTSW	17	40,887,507 (GRCm39)	missense	unknown
R4735:Gm44501	UTSW	17	40,889,810 (GRCm39)	missense	probably benign	0.00
R4795:Gm44501	UTSW	17	40,889,605 (GRCm39)	missense	probably benign	0.01
R4888:Gm44501	UTSW	17	40,887,515 (GRCm39)	missense	unknown
R4904:Gm44501	UTSW	17	40,889,884 (GRCm39)	missense	possibly damaging	0.46
R5057:Gm44501	UTSW	17	40,889,563 (GRCm39)	missense	probably benign	0.00
R7746:Gm44501	UTSW	17	40,889,720 (GRCm39)	missense	possibly damaging	0.63
R9331:Gm44501	UTSW	17	40,889,620 (GRCm39)	missense	probably benign	0.07
R9476:Gm44501	UTSW	17	40,889,820 (GRCm39)	missense	possibly damaging	0.86
R9483:Gm44501	UTSW	17	40,889,872 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAGGTTATCAGTCAAGTGC -3'
(R):5'- AGCCCTGTTATATGCTCCAAGAC -3'

Sequencing Primer
(F):5'- CAAGGTTATCAGTCAAGTGCTTTAGG -3'
(R):5'- GCTCCAAGACACAAATGAGAATATTG -3'

Posted On

2019-10-07