Mutagenetix > Incidental Mutation

Incidental Mutation 'R4512:Tmprss11a'

331260

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11a

Ensembl Gene

ENSMUSG00000072845

Gene Name

transmembrane protease, serine 11a

Synonyms

LOC194597

MMRRC Submission

041587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86558269-86616849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86576437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 138 (V138A)

Ref Sequence

ENSEMBL: ENSMUSP00000098634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101073]

AlphaFold

Q3UQ41

Predicted Effect

probably benign
Transcript: ENSMUST00000101073
AA Change: V138A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: V138A

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
Pfam:SEA	36	135	3.2e-23	PFAM
Tryp_SPc	157	383	1.98e-87	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (67/68)

MGI Phenotype

PHENOTYPE: Homozygous mice for a targeted mutation appear normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,978,573 (GRCm39)	D573V	probably damaging	Het
Adgrg5	T	C	8: 95,660,652 (GRCm39)	V93A	possibly damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alpk1	T	C	3: 127,478,120 (GRCm39)		probably benign	Het
Aopep	A	T	13: 63,304,481 (GRCm39)	T497S	probably damaging	Het
Atp6v1h	T	C	1: 5,168,358 (GRCm39)		probably null	Het
Aup1	C	T	6: 83,033,368 (GRCm39)	R248*	probably null	Het
BC016579	C	A	16: 45,453,363 (GRCm39)	A151S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chsy3	A	G	18: 59,543,259 (GRCm39)	D799G	probably damaging	Het
Dnah6	G	A	6: 73,155,399 (GRCm39)	R739W	probably damaging	Het
Dync2h1	A	T	9: 7,085,009 (GRCm39)	C553*	probably null	Het
Fhl4	A	G	10: 84,934,578 (GRCm39)	S68P	possibly damaging	Het
Gcc1	T	C	6: 28,419,208 (GRCm39)	E375G	probably benign	Het
Gm10110	A	G	14: 90,135,151 (GRCm39)		noncoding transcript	Het
Hspbap1	C	T	16: 35,607,611 (GRCm39)	S39F	probably damaging	Het
Lmln	G	A	16: 32,908,507 (GRCm39)	R311Q	probably benign	Het
Ly6e	T	A	15: 74,829,682 (GRCm39)	V24D	probably damaging	Het
Magi3	T	C	3: 103,996,871 (GRCm39)	T225A	probably damaging	Het
Mark1	C	A	1: 184,639,286 (GRCm39)	R577L	probably benign	Het
Mlxip	G	T	5: 123,533,128 (GRCm39)	V46L	probably benign	Het
Mrpl40	T	C	16: 18,691,308 (GRCm39)	D134G	probably benign	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nalcn	T	C	14: 123,532,860 (GRCm39)	Y1300C	probably damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ndst3	T	C	3: 123,465,315 (GRCm39)	D219G	probably damaging	Het
Nfkbie	C	T	17: 45,867,165 (GRCm39)	S100L	probably benign	Het
Oard1	A	G	17: 48,723,788 (GRCm39)	I145V	probably benign	Het
Odf2	C	T	2: 29,816,109 (GRCm39)		probably null	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4n4b	C	A	14: 50,536,453 (GRCm39)	L104F	probably damaging	Het
Or51t4	T	C	7: 102,597,945 (GRCm39)	L81P	probably damaging	Het
Or5m3b	T	C	2: 85,871,913 (GRCm39)	S85P	probably damaging	Het
Otud7a	T	C	7: 63,379,625 (GRCm39)	F284L	probably benign	Het
Parg	T	C	14: 31,984,693 (GRCm39)	V241A	probably damaging	Het
Pla2g4a	T	A	1: 149,736,802 (GRCm39)		probably null	Het
Psd4	C	T	2: 24,292,901 (GRCm39)	R684C	probably damaging	Het
Pttg1ip	T	C	10: 77,432,902 (GRCm39)		probably benign	Het
R3hcc1	A	G	14: 69,936,060 (GRCm39)	S250P	probably damaging	Het
Rere	T	A	4: 150,561,909 (GRCm39)	Y272N	unknown	Het
Selplg	A	G	5: 113,957,124 (GRCm39)	V394A	probably benign	Het
Senp7	T	G	16: 55,986,246 (GRCm39)	F559V	probably damaging	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Smim3	A	T	18: 60,608,556 (GRCm39)	V32D	probably damaging	Het
Spsb3	A	G	17: 25,109,270 (GRCm39)	D47G	probably damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Stk11	T	C	10: 79,962,211 (GRCm39)		probably benign	Het
Susd1	A	T	4: 59,329,491 (GRCm39)	L646Q	possibly damaging	Het
Ttn	C	A	2: 76,728,969 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,580,814 (GRCm39)	K15033E	probably damaging	Het
Tyrp1	G	T	4: 80,755,749 (GRCm39)	D173Y	probably damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Vamp4	A	T	1: 162,405,457 (GRCm39)	D28V	possibly damaging	Het
Vmn2r78	C	T	7: 86,569,452 (GRCm39)	S115F	probably benign	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Tmprss11a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01596:Tmprss11a	APN	5	86,570,378 (GRCm39)	missense	probably damaging	1.00
IGL02413:Tmprss11a	APN	5	86,570,507 (GRCm39)	missense	possibly damaging	0.50
IGL02533:Tmprss11a	APN	5	86,562,386 (GRCm39)	missense	probably damaging	0.96
R1202:Tmprss11a	UTSW	5	86,559,784 (GRCm39)	critical splice acceptor site	probably null
R1273:Tmprss11a	UTSW	5	86,562,447 (GRCm39)	missense	probably benign	0.10
R1704:Tmprss11a	UTSW	5	86,576,561 (GRCm39)	missense	probably benign	0.25
R1756:Tmprss11a	UTSW	5	86,568,038 (GRCm39)	missense	probably damaging	1.00
R1783:Tmprss11a	UTSW	5	86,567,891 (GRCm39)	missense	probably damaging	0.98
R1967:Tmprss11a	UTSW	5	86,579,702 (GRCm39)	missense	probably benign	0.23
R2944:Tmprss11a	UTSW	5	86,576,511 (GRCm39)	missense	probably benign	0.19
R3881:Tmprss11a	UTSW	5	86,593,664 (GRCm39)	missense	possibly damaging	0.85
R4515:Tmprss11a	UTSW	5	86,568,055 (GRCm39)	missense	probably damaging	1.00
R4530:Tmprss11a	UTSW	5	86,576,540 (GRCm39)	missense	possibly damaging	0.79
R4543:Tmprss11a	UTSW	5	86,559,668 (GRCm39)	nonsense	probably null
R4881:Tmprss11a	UTSW	5	86,570,432 (GRCm39)	missense	probably damaging	1.00
R5066:Tmprss11a	UTSW	5	86,567,859 (GRCm39)	critical splice donor site	probably null
R5186:Tmprss11a	UTSW	5	86,567,938 (GRCm39)	missense	probably damaging	1.00
R5254:Tmprss11a	UTSW	5	86,559,665 (GRCm39)	missense	probably damaging	0.99
R5313:Tmprss11a	UTSW	5	86,559,674 (GRCm39)	missense	probably damaging	1.00
R6516:Tmprss11a	UTSW	5	86,567,987 (GRCm39)	missense	probably damaging	1.00
R6920:Tmprss11a	UTSW	5	86,576,494 (GRCm39)	missense	probably benign	0.23
R7018:Tmprss11a	UTSW	5	86,576,429 (GRCm39)	missense	probably damaging	0.96
R7566:Tmprss11a	UTSW	5	86,591,993 (GRCm39)	missense	possibly damaging	0.50
R7962:Tmprss11a	UTSW	5	86,567,879 (GRCm39)	missense	probably damaging	1.00
R9299:Tmprss11a	UTSW	5	86,570,361 (GRCm39)	nonsense	probably null
R9479:Tmprss11a	UTSW	5	86,562,402 (GRCm39)	nonsense	probably null
R9529:Tmprss11a	UTSW	5	86,576,501 (GRCm39)	missense	probably benign	0.00
R9591:Tmprss11a	UTSW	5	86,567,897 (GRCm39)	missense	possibly damaging	0.79
X0057:Tmprss11a	UTSW	5	86,593,667 (GRCm39)	missense	probably benign	0.03
X0063:Tmprss11a	UTSW	5	86,562,437 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmprss11a	UTSW	5	86,576,490 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAGATGAGCACCAATCAGTTACTTC -3'
(R):5'- ATGTGAACCCTGCTCTTGTG -3'

Sequencing Primer
(F):5'- ATGTCAGACATGCTTTCGTCAG -3'
(R):5'- TGTGTTTCCCAGACCAGAAG -3'

Posted On

2015-07-21