Mutagenetix > Incidental Mutation

Incidental Mutation 'RF007:Try4'

602889

Institutional Source

Beutler Lab

Gene Symbol

Try4

Ensembl Gene

ENSMUSG00000054106

Gene Name

trypsin 4

Synonyms

0910001B19Rik, Td

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF007 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41302269-41305532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41305363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 206 (C206S)

Ref Sequence

ENSEMBL: ENSMUSP00000031913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031913]

AlphaFold

Q9R0T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031913
AA Change: C206S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000031913
Gene: ENSMUSG00000054106
AA Change: C206S

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	23	239	9.72e-105	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.2%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500015O10Rik	TTCTGTA	T	1: 43,737,192		probably benign	Het
Adgrl1	T	A	8: 83,934,772	S933T	probably benign	Het
Adgrl2	G	A	3: 148,839,248	T737I	probably damaging	Het
Adra2c	T	A	5: 35,281,042	V386E	probably damaging	Het
Agbl5	C	A	5: 30,903,245	T761N	unknown	Het
Ahnak	T	A	19: 9,013,601	M4083K	possibly damaging	Het
Aldh1l1	A	T	6: 90,598,259	I843F	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,909		probably benign	Het
Arid1b	GCG	GCGCCG	17: 4,995,594		probably benign	Het
B4galnt4	T	C	7: 141,070,696		probably null	Het
Blm	C	CTCCTCCTCCTAG	7: 80,512,933		probably null	Het
Btg3	A	G	16: 78,332,948	*52W	probably null	Het
Cc2d1a	T	C	8: 84,134,669	T796A	probably damaging	Het
Cd200r1	T	C	16: 44,790,011	S161P	possibly damaging	Het
Cenpj	A	G	14: 56,530,048		probably null	Het
Chd9	A	G	8: 91,033,950	T2108A	possibly damaging	Het
Cherp	TGGAGCG	T	8: 72,462,059		probably benign	Het
Cnot11	T	C	1: 39,542,494	V372A	probably damaging	Het
Cntnap5b	T	C	1: 100,164,070	C179R	probably damaging	Het
Cntrl	T	A	2: 35,170,500	N1901K	probably benign	Het
Coil	CTGG	C	11: 88,981,830		probably benign	Het
Col1a1	A	G	11: 94,943,040	D488G	probably damaging	Het
Coro1a	T	C	7: 126,701,852	H130R	probably damaging	Het
Crybg3	A	C	16: 59,556,704	S1396A	possibly damaging	Het
Csf2rb2	A	G	15: 78,291,926	I259T	probably benign	Het
Cyp1a2	G	T	9: 57,681,970	P187Q	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,894,263		probably null	Het
Dcun1d3	T	C	7: 119,859,503	E103G	possibly damaging	Het
Dmkn	T	A	7: 30,769,704		probably null	Het
Dna2	T	C	10: 62,966,695	L864P	probably damaging	Het
Dnah14	T	A	1: 181,685,809	M1909K	probably benign	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Efna5	T	C	17: 62,613,394	S163G	probably benign	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Ercc4	C	T	16: 13,123,507	S253L	possibly damaging	Het
Flywch1	ACCCA	ACCCAATTCTGGTGTGGGGAGGCTACGTACTCTCCCA	17: 23,762,164		probably null	Het
Flywch1	CCTGGTGT	CCTGGTGTGGGGAGGCTACGTACTCACCCACTTCTGGTGT	17: 23,762,171		probably null	Het
Folh1	T	C	7: 86,775,687	T25A	probably benign	Het
Foxi3	C	A	6: 70,960,861	T359K	possibly damaging	Het
Gab3	TCT	TCTGCT	X: 74,999,996		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,011		probably benign	Het
Gab3	TTC	TTCATC	X: 75,000,025		probably benign	Het
Gba2	G	T	4: 43,569,894	L440M	probably damaging	Het
Gm14412	T	A	2: 177,315,701	N134Y	possibly damaging	Het
Gpr88	A	G	3: 116,252,369	S98P	probably benign	Het
Il1r1	A	G	1: 40,313,278	Y539C	probably damaging	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTTCCTTTT	9: 106,570,609		probably benign	Het
Lce1m	CTGCT	CTGCTTCCACTGTTGCT	3: 93,018,144		probably benign	Het
Lkaaear1	T	TATCTCCAGCTCC	2: 181,697,559		probably benign	Het
Lkaaear1	CAGCTCCAGCTCCAGCTCCAGCTC	CAGCTCCAGCTCTAGCTCCAGCTCCAGCTCCAGCTC	2: 181,697,577		probably benign	Het
Ltb4r1	T	A	14: 55,767,969	L243Q	possibly damaging	Het
Man2a1	T	A	17: 64,712,253	V704D	probably damaging	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGTTCCAGCTCCA	2: 121,306,308		probably benign	Het
Mcu	G	T	10: 59,491,116	A63E	probably benign	Het
Mrps31	A	T	8: 22,419,864	D182V	possibly damaging	Het
Mslnl	T	A	17: 25,743,228	V200E	possibly damaging	Het
Naip1	A	T	13: 100,426,134	M841K	probably benign	Het
Ndufab1	T	C	7: 122,096,638	K88E	possibly damaging	Het
Nlrp5	A	C	7: 23,418,161	I437L	probably benign	Het
Nnt	C	T	13: 119,396,857	V91M	probably damaging	Het
Nusap1	TACACGTTAGCAGTGAGGAGCAAGCTGAGA	TACACGTTAGCAGTGAGGAGCAAGCTGAGAGACACGTTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,581		probably benign	Het
Nynrin	T	G	14: 55,866,201		probably null	Het
Olfr358	T	G	2: 37,005,174	T147P	probably damaging	Het
Olfr773	T	A	10: 129,186,693	I243F	probably damaging	Het
Olfr992	C	A	2: 85,399,793	A247S	probably damaging	Het
Osbpl8	A	G	10: 111,276,467	K481R	possibly damaging	Het
Padi6	T	C	4: 140,729,743	D540G	probably damaging	Het
Pcmtd1	T	C	1: 7,155,105		probably benign	Het
Pdik1l	TTTTTGTTTT	TTTTTGTTTTGGTTTTGTTTT	4: 134,279,368		probably null	Het
Phospho1	T	C	11: 95,831,055	Y184H	probably damaging	Het
Pi4ka	T	A	16: 17,297,233	R1431W		Het
Plxdc1	T	A	11: 97,978,678	H28L	probably benign	Het
Pnmal1	ACCTCATGATGCACCTGCTTCAACA	ACCTCATGATGCACCTGCTTCAACACCTCATGATGCACCTGCTTCAACA	7: 16,961,424		probably benign	Het
Ppp1r7	T	C	1: 93,346,289		probably null	Het
Ppp1r9a	T	A	6: 4,906,657	V404E	probably damaging	Het
Scfd1	T	A	12: 51,422,973	S434T	probably benign	Het
Six5	A	G	7: 19,094,937	S101G	probably benign	Het
Slc6a4	C	A	11: 77,019,182	T421K	probably damaging	Het
Smarcd3	C	A	5: 24,596,070	R113L	probably damaging	Het
Son	T	A	16: 91,659,369	M1668K	possibly damaging	Het
Tcf25	A	G	8: 123,395,630	D434G	probably benign	Het
Tcof1	CCAGAGATCCCC	CCAGAGATCCCCGTGGCTGCCGAGATGGGCACTTTCACAGAGATCCCC	18: 60,833,568		probably benign	Het
Tep1	A	G	14: 50,860,945	V463A	possibly damaging	Het
Thegl	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCGTCCCCAGTCCCGCAAGGCCAG	5: 77,016,408		probably benign	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Het
Trav15-2-dv6-2	GGAG	GGAGGAG	14: 53,649,751		probably benign	Het
Trav15-2-dv6-2	AAG	AAGCAG	14: 53,649,755		probably benign	Het
Trim24	A	G	6: 37,953,536	K642E	possibly damaging	Het
Trim33	GGCCCCCGC	GGC	3: 103,280,217		probably benign	Het
Triobp	CTCCCTGTGCCCAACGG	CTCCCTGTGCCCAACGGAACAACCCCAGGATTCCCTGTGCCCAACGG	15: 78,967,044		probably benign	Het
Trmu	G	T	15: 85,892,569	V161L	possibly damaging	Het
Usp2	TTCACTTAC	TTCACTTACTCATGTGACCTGTTCGTCACTTAC	9: 44,089,121		probably benign	Het
Vmn1r62	A	T	7: 5,675,670	M117L	probably benign	Het
Vmn2r104	A	T	17: 20,048,040	Y56N	probably benign	Het
Wdr66	G	GGAT	5: 123,254,254		probably benign	Het
Xxylt1	C	T	16: 31,050,680	D201N	possibly damaging	Het
Zfp563	T	A	17: 33,105,025	I198K	probably benign	Het
Zfp612	T	A	8: 110,089,542	C460*	probably null	Het
Zfp691	G	A	4: 119,170,735	T100M	probably benign	Het
Zfp773	A	T	7: 7,132,690	C302*	probably null	Het
Zmat2	A	G	18: 36,797,883	E154G	probably damaging	Het
Zw10	T	A	9: 49,060,920	I132N	possibly damaging	Het

Other mutations in Try4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Try4	APN	6	41305026	missense	probably damaging	1.00
IGL02216:Try4	APN	6	41305031	missense	probably benign
R0537:Try4	UTSW	6	41304362	missense	probably benign
R0731:Try4	UTSW	6	41304367	missense	probably benign	0.01
R1113:Try4	UTSW	6	41305374	missense	possibly damaging	0.90
R1833:Try4	UTSW	6	41303431	missense	probably damaging	0.98
R2246:Try4	UTSW	6	41305472	missense	possibly damaging	0.80
R4131:Try4	UTSW	6	41305401	nonsense	probably null
R4414:Try4	UTSW	6	41304971	missense	possibly damaging	0.84
R5457:Try4	UTSW	6	41303421	missense	probably damaging	1.00
R5707:Try4	UTSW	6	41305043	missense	possibly damaging	0.65
R6023:Try4	UTSW	6	41303421	missense	probably damaging	1.00
R7131:Try4	UTSW	6	41304403	missense	probably benign	0.03
R7783:Try4	UTSW	6	41302295	missense	possibly damaging	0.96
R8051:Try4	UTSW	6	41305062	missense	probably damaging	0.99
R9320:Try4	UTSW	6	41305074	critical splice donor site	probably null
R9730:Try4	UTSW	6	41305062	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTCCTGTAGTGACTCCATGG -3'
(R):5'- AGGTATTTCCCACAGACAAAAGG -3'

Sequencing Primer
(F):5'- TCCTGTAGTGACTCCATGGAAAAGTG -3'
(R):5'- TTTCCCACAGACAAAAGGATAAAGAG -3'

Posted On

2019-12-04