Mutagenetix > Incidental Mutation

Incidental Mutation 'R2234:Tmprss11c'

239913

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11c

Ensembl Gene

ENSMUSG00000061184

Gene Name

transmembrane protease, serine 11c

Synonyms

MMRRC Submission

040235-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86379340-86437167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 86429945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 40 (T40K)

Ref Sequence

ENSEMBL: ENSMUSP00000142902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059424] [ENSMUST00000196462]

AlphaFold

Q1JRP2

Predicted Effect

probably benign
Transcript: ENSMUST00000059424
AA Change: T40K

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000062915
Gene: ENSMUSG00000061184
AA Change: T40K

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
SEA	58	183	5.19e-3	SMART
Tryp_SPc	199	425	8.42e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196462
AA Change: T40K

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142902
Gene: ENSMUSG00000061184
AA Change: T40K

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
SEA	58	176	3.6e-4	SMART
Tryp_SPc	186	412	4.1e-93	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Akap8l	C	T	17: 32,557,777 (GRCm39)	G37R	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cd81	T	A	7: 142,620,056 (GRCm39)	N71K	probably benign	Het
Cemip	G	T	7: 83,647,770 (GRCm39)	D103E	probably benign	Het
Chfr	A	G	5: 110,318,729 (GRCm39)	K580E	probably damaging	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cpb1	A	T	3: 20,329,629 (GRCm39)	D32E	probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
Eml5	A	C	12: 98,807,840 (GRCm39)	D984E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hspa2	A	G	12: 76,451,419 (GRCm39)	T38A	possibly damaging	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kalrn	C	A	16: 33,996,632 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,763,129 (GRCm39)	D240G	probably damaging	Het
Lrrc56	T	A	7: 140,778,207 (GRCm39)	D66E	probably damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2d4	C	A	7: 106,543,827 (GRCm39)	C127F	probably damaging	Het
Or4c114	A	G	2: 88,904,592 (GRCm39)	L281P	probably damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or7g19	A	T	9: 18,856,112 (GRCm39)	H56L	probably damaging	Het
Or8k39	A	G	2: 86,563,921 (GRCm39)	F12L	possibly damaging	Het
Pax8	A	G	2: 24,333,114 (GRCm39)	I77T	probably damaging	Het
Paxbp1	T	C	16: 90,831,822 (GRCm39)	I355M	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Plec	A	T	15: 76,061,147 (GRCm39)	I2952N	probably damaging	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Ssc5d	A	G	7: 4,946,849 (GRCm39)	T1068A	probably benign	Het
Stambp	A	G	6: 83,528,960 (GRCm39)	S362P	probably damaging	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xpnpep1	T	G	19: 53,001,892 (GRCm39)	D118A	probably damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het

Other mutations in Tmprss11c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00155:Tmprss11c	APN	5	86,387,254 (GRCm39)	missense	probably benign	0.00
IGL01357:Tmprss11c	APN	5	86,379,666 (GRCm39)	missense	probably damaging	1.00
IGL01809:Tmprss11c	APN	5	86,385,521 (GRCm39)	missense	possibly damaging	0.89
IGL02972:Tmprss11c	APN	5	86,385,692 (GRCm39)	missense	possibly damaging	0.77
IGL03135:Tmprss11c	APN	5	86,385,509 (GRCm39)	missense	probably damaging	1.00
IGL03255:Tmprss11c	APN	5	86,419,341 (GRCm39)	missense	probably damaging	0.99
IGL03355:Tmprss11c	APN	5	86,379,730 (GRCm39)	missense	probably benign	0.03
R0165:Tmprss11c	UTSW	5	86,379,786 (GRCm39)	splice site	probably benign
R0285:Tmprss11c	UTSW	5	86,419,289 (GRCm39)	missense	probably damaging	1.00
R0480:Tmprss11c	UTSW	5	86,385,468 (GRCm39)	splice site	probably benign
R0639:Tmprss11c	UTSW	5	86,383,328 (GRCm39)	missense	probably damaging	1.00
R1554:Tmprss11c	UTSW	5	86,437,119 (GRCm39)	start codon destroyed	possibly damaging	0.59
R1651:Tmprss11c	UTSW	5	86,387,283 (GRCm39)	missense	probably damaging	1.00
R2235:Tmprss11c	UTSW	5	86,429,945 (GRCm39)	missense	probably benign	0.12
R2698:Tmprss11c	UTSW	5	86,419,322 (GRCm39)	missense	probably damaging	1.00
R4787:Tmprss11c	UTSW	5	86,404,312 (GRCm39)	missense	probably benign	0.00
R4962:Tmprss11c	UTSW	5	86,385,569 (GRCm39)	missense	probably damaging	1.00
R5063:Tmprss11c	UTSW	5	86,385,689 (GRCm39)	missense	probably benign	0.28
R5217:Tmprss11c	UTSW	5	86,404,249 (GRCm39)	missense	probably benign
R5366:Tmprss11c	UTSW	5	86,429,993 (GRCm39)	missense	possibly damaging	0.93
R6343:Tmprss11c	UTSW	5	86,404,204 (GRCm39)	missense	probably damaging	1.00
R6598:Tmprss11c	UTSW	5	86,437,092 (GRCm39)	missense	probably benign	0.01
R6681:Tmprss11c	UTSW	5	86,437,119 (GRCm39)	start codon destroyed	possibly damaging	0.59
R7170:Tmprss11c	UTSW	5	86,385,478 (GRCm39)	critical splice donor site	probably null
R7198:Tmprss11c	UTSW	5	86,379,691 (GRCm39)	missense	probably damaging	1.00
R7258:Tmprss11c	UTSW	5	86,419,272 (GRCm39)	missense	probably damaging	1.00
R7382:Tmprss11c	UTSW	5	86,379,723 (GRCm39)	missense	probably benign	0.19
R7391:Tmprss11c	UTSW	5	86,385,650 (GRCm39)	missense	probably damaging	1.00
R7590:Tmprss11c	UTSW	5	86,387,332 (GRCm39)	missense	probably benign	0.01
R7894:Tmprss11c	UTSW	5	86,379,655 (GRCm39)	missense	probably damaging	1.00
R8164:Tmprss11c	UTSW	5	86,379,712 (GRCm39)	missense	probably damaging	1.00
R8311:Tmprss11c	UTSW	5	86,383,412 (GRCm39)	missense	probably damaging	1.00
R8416:Tmprss11c	UTSW	5	86,387,276 (GRCm39)	missense	probably damaging	1.00
R8426:Tmprss11c	UTSW	5	86,379,677 (GRCm39)	missense	probably damaging	1.00
R8877:Tmprss11c	UTSW	5	86,385,540 (GRCm39)	nonsense	probably null
R9092:Tmprss11c	UTSW	5	86,385,495 (GRCm39)	missense	probably benign	0.04
R9400:Tmprss11c	UTSW	5	86,385,516 (GRCm39)	missense	probably benign	0.43
R9614:Tmprss11c	UTSW	5	86,383,379 (GRCm39)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- CTGAGGACAAACTTTTGCGATG -3'
(R):5'- ATGCACAAACTCCACTGTTTCG -3'

Sequencing Primer
(F):5'- GACAAACTTTTGCGATGAACATTTAC -3'
(R):5'- AACTCCACTGTTTCGAAACTCTTCAG -3'

Posted On

2014-10-15