Mutagenetix > Incidental Mutation

Incidental Mutation 'R5254:Tmprss11a'

399329

Institutional Source

Beutler Lab

Gene Symbol

Tmprss11a

Ensembl Gene

ENSMUSG00000072845

Gene Name

transmembrane protease, serine 11a

Synonyms

LOC194597

MMRRC Submission

042825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5254 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86558269-86616849 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 86559665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 376 (V376L)

Ref Sequence

ENSEMBL: ENSMUSP00000098634 (fasta)

Gene Model

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

AlphaFold

Q3UQ41

Predicted Effect

probably damaging
Transcript: ENSMUST00000101073
AA Change: V376L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098634
Gene: ENSMUSG00000072845
AA Change: V376L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198504

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (82/84)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	G	T	8: 71,911,042 (GRCm39)	C296*	probably null	Het
Adam11	T	A	11: 102,665,098 (GRCm39)	Y413*	probably null	Het
Ankhd1	A	G	18: 36,789,768 (GRCm39)	I907V	probably benign	Het
Arrdc5	A	G	17: 56,604,897 (GRCm39)	I130T	probably benign	Het
Asic5	T	A	3: 81,928,294 (GRCm39)	I419K	probably damaging	Het
Atp4a	A	T	7: 30,414,955 (GRCm39)	E248V	probably damaging	Het
Avil	C	A	10: 126,847,630 (GRCm39)	V154L	probably benign	Het
Bclaf1	T	A	10: 20,199,282 (GRCm39)	H226Q	possibly damaging	Het
Cald1	A	G	6: 34,723,351 (GRCm39)		probably benign	Het
Cd200r4	A	C	16: 44,652,453 (GRCm39)	D27A	possibly damaging	Het
Cdsn	T	A	17: 35,863,099 (GRCm39)	M1K	probably null	Het
Cfap46	T	A	7: 139,258,430 (GRCm39)	H281L	possibly damaging	Het
Chaf1a	T	C	17: 56,369,606 (GRCm39)	F533L	probably benign	Het
Chil4	T	A	3: 106,126,768 (GRCm39)	I5F	probably benign	Het
Ctu2	A	T	8: 123,203,327 (GRCm39)	R48W	probably damaging	Het
Daam1	A	T	12: 71,993,350 (GRCm39)	H373L	unknown	Het
Dcaf10	T	A	4: 45,370,415 (GRCm39)	Y328N	possibly damaging	Het
Dst	A	T	1: 34,217,012 (GRCm39)	K1151*	probably null	Het
Ect2	T	C	3: 27,184,219 (GRCm39)	D503G	probably damaging	Het
Epm2a	C	A	10: 11,333,089 (GRCm39)	D307E	probably benign	Het
Exph5	A	T	9: 53,249,230 (GRCm39)	D73V	probably damaging	Het
Fam20b	C	T	1: 156,533,310 (GRCm39)	G102D	probably damaging	Het
Fat2	T	C	11: 55,172,001 (GRCm39)	N2904S	probably damaging	Het
Flt3	T	A	5: 147,312,500 (GRCm39)	Q147L	possibly damaging	Het
Fndc11	A	G	2: 180,863,956 (GRCm39)	T254A	possibly damaging	Het
Galnt15	C	T	14: 31,780,244 (GRCm39)	R514*	probably null	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Ggt1	T	A	10: 75,415,032 (GRCm39)		probably null	Het
Gm26526	A	T	7: 39,238,658 (GRCm39)		noncoding transcript	Het
H2-K2	T	C	17: 34,216,436 (GRCm39)	T237A	probably damaging	Het
Igf1r	T	A	7: 67,857,067 (GRCm39)	S1010T	probably damaging	Het
Il21	T	C	3: 37,281,884 (GRCm39)	T87A	possibly damaging	Het
Kmt2b	G	A	7: 30,268,600 (GRCm39)	R2010C	probably damaging	Het
Kmt2c	G	A	5: 25,519,592 (GRCm39)	P2173S	probably benign	Het
Krt1	A	T	15: 101,754,803 (GRCm39)	S512T	unknown	Het
Krtap16-1	G	A	11: 99,876,424 (GRCm39)	R327*	probably null	Het
Lama1	T	A	17: 68,063,711 (GRCm39)	I745N	probably benign	Het
Lrrk1	T	A	7: 65,956,855 (GRCm39)	N372I	probably benign	Het
Lyst	A	T	13: 13,857,655 (GRCm39)	E2481D	probably benign	Het
Map2k1	A	T	9: 64,095,027 (GRCm39)		probably benign	Het
Mbip	A	G	12: 56,384,228 (GRCm39)	V215A	probably damaging	Het
Mdc1	T	A	17: 36,158,814 (GRCm39)	V398D	probably benign	Het
Mog	T	G	17: 37,323,264 (GRCm39)	I225L	probably benign	Het
Mrgprx3-ps	T	A	7: 46,959,184 (GRCm39)		noncoding transcript	Het
Muc5b	C	T	7: 141,418,277 (GRCm39)	S3741L	probably benign	Het
Myo5a	A	T	9: 75,037,402 (GRCm39)	I202F	probably damaging	Het
Myo5b	A	T	18: 74,833,677 (GRCm39)	I818F	possibly damaging	Het
Nfia	T	A	4: 97,902,534 (GRCm39)	M262K	probably damaging	Het
Nisch	C	T	14: 30,928,524 (GRCm39)		probably null	Het
Nkd1	A	G	8: 89,315,822 (GRCm39)	D64G	probably damaging	Het
Nt5c2	T	A	19: 46,881,999 (GRCm39)	K284*	probably null	Het
Or14a259	A	T	7: 86,013,398 (GRCm39)	V49E	possibly damaging	Het
Or4k15b	C	A	14: 50,272,135 (GRCm39)	A242S	possibly damaging	Het
Or4l1	A	T	14: 50,166,236 (GRCm39)	I255N	probably damaging	Het
Or52z14	T	G	7: 103,252,996 (GRCm39)	I45R	probably benign	Het
Or5an1c	A	G	19: 12,218,612 (GRCm39)	S138P	probably damaging	Het
Or5j3	A	T	2: 86,128,265 (GRCm39)	Y35F	probably damaging	Het
Or8g55	A	T	9: 39,784,741 (GRCm39)	T57S	possibly damaging	Het
Or8k24	A	T	2: 86,216,484 (GRCm39)	S93T	possibly damaging	Het
Pcdhb17	A	T	18: 37,619,878 (GRCm39)	D556V	probably damaging	Het
Pcdhga8	A	T	18: 37,859,673 (GRCm39)	D243V	probably benign	Het
Polq	A	T	16: 36,909,681 (GRCm39)	Q2355L	probably damaging	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Slc5a4a	C	A	10: 76,018,572 (GRCm39)	Y506*	probably null	Het
Sp110	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Tarbp1	G	A	8: 127,193,895 (GRCm39)	H336Y	probably damaging	Het
Tas2r134	T	G	2: 51,517,559 (GRCm39)	F13V	probably benign	Het
Tgfb2	A	G	1: 186,436,680 (GRCm39)	Y98H	probably damaging	Het
Tmprss11f	T	A	5: 86,685,892 (GRCm39)	K158N	probably benign	Het
Tnip2	G	T	5: 34,660,922 (GRCm39)	Q177K	probably damaging	Het
Trp53inp1	T	A	4: 11,165,075 (GRCm39)		probably null	Het
Ttc28	C	T	5: 111,419,104 (GRCm39)	P1398S	probably benign	Het
Umodl1	T	G	17: 31,199,333 (GRCm39)	I308S	possibly damaging	Het
Vcan	A	T	13: 89,839,719 (GRCm39)	S1942T	probably damaging	Het
Vmn2r124	T	A	17: 18,283,339 (GRCm39)	N344K	probably benign	Het
Vmn2r25	C	G	6: 123,802,277 (GRCm39)	C542S	probably damaging	Het
Wiz	T	A	17: 32,597,470 (GRCm39)		probably benign	Het
Wrap73	A	G	4: 154,239,803 (GRCm39)	Y343C	probably benign	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
R4512:Tmprss11a	UTSW	5	86,576,437 (GRCm39)	missense	probably benign	0.00
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
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'- TCACATTGCTAGGTCCAGC -3'
(R):5'- GTTGTAATCACTACCAGGCACAC -3'

Sequencing Primer
(F):5'- ACATTGCTAGGTCCAGCCATTTAATC -3'
(R):5'- CATCTCATGTCCAGCAGTAGATG -3'

Posted On

2016-07-06