Mutagenetix > Incidental Mutation

Incidental Mutation 'R7931:Prss44'

643602

Institutional Source

Beutler Lab

Gene Symbol

Prss44

Ensembl Gene

ENSMUSG00000032493

Gene Name

serine protease 44

Synonyms

1700036D21Rik, TESSP4

MMRRC Submission

045978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R7931 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

110642987-110647067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 110643746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 130 (Q130P)

Ref Sequence

ENSEMBL: ENSMUSP00000095948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098345] [ENSMUST00000141089] [ENSMUST00000198815]

AlphaFold

Q402U7

Predicted Effect

probably damaging
Transcript: ENSMUST00000098345
AA Change: Q130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095948
Gene: ENSMUSG00000032493
AA Change: Q130P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Tryp_SPc	111	340	1.17e-84	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000141089
AA Change: Q130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493
AA Change: Q130P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Trypsin	112	144	1.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198815

SMART Domains

Protein: ENSMUSP00000142633
Gene: ENSMUSG00000032493

Domain	Start	End	E-Value	Type
Tryp_SPc	3	115	2.6e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	A	T	2: 91,037,060 (GRCm39)		probably null	Het
Aire	G	A	10: 77,866,130 (GRCm39)	A536V	probably damaging	Het
Aox4	A	G	1: 58,294,645 (GRCm39)	I951M	probably benign	Het
Ash1l	G	T	3: 88,950,848 (GRCm39)	C2190F	probably damaging	Het
C1s1	C	T	6: 124,510,359 (GRCm39)	V363M	probably damaging	Het
Col7a1	C	A	9: 108,809,590 (GRCm39)		probably benign	Het
Coq10b	A	G	1: 55,092,152 (GRCm39)		probably benign	Het
Diaph3	A	T	14: 87,352,456 (GRCm39)	D48E	possibly damaging	Het
Dnajc13	A	G	9: 104,095,763 (GRCm39)	V559A	probably benign	Het
Dzank1	T	C	2: 144,323,614 (GRCm39)	I610V	probably benign	Het
F7	A	G	8: 13,085,209 (GRCm39)	I412V	probably benign	Het
Flt1	A	G	5: 147,525,382 (GRCm39)	S919P	probably damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,201,351 (GRCm39)		probably benign	Het
Hoxa13	G	GCA	6: 52,237,620 (GRCm39)		probably null	Het
Igkv4-70	C	A	6: 69,244,975 (GRCm39)	R82L	probably damaging	Het
Lnp1	T	A	16: 56,748,281 (GRCm39)	R4*	probably null	Het
Lrrc3b	T	C	14: 15,358,018 (GRCm38)	N196S	probably benign	Het
Mlxip	A	G	5: 123,588,558 (GRCm39)	D816G	probably damaging	Het
Myh7	C	T	14: 55,221,119 (GRCm39)	E935K	possibly damaging	Het
Myom3	A	T	4: 135,516,947 (GRCm39)	H839L	probably benign	Het
Nebl	C	T	2: 17,381,433 (GRCm39)		probably null	Het
Ninj1	T	C	13: 49,347,432 (GRCm39)	I99T	probably damaging	Het
Nvl	C	T	1: 180,936,720 (GRCm39)		probably benign	Het
Or11g1	A	C	14: 50,651,786 (GRCm39)	M262L	probably damaging	Het
Or2l5	A	G	16: 19,334,258 (GRCm39)	S43P	possibly damaging	Het
Or4a76	T	A	2: 89,460,448 (GRCm39)	I265F	possibly damaging	Het
Or8g55	A	T	9: 39,785,146 (GRCm39)	T192S	possibly damaging	Het
Otop1	A	G	5: 38,445,364 (GRCm39)	H174R	probably damaging	Het
Pcdhb16	A	G	18: 37,611,510 (GRCm39)	N157D	possibly damaging	Het
Ptprh	C	A	7: 4,574,987 (GRCm39)	S344I	probably benign	Het
Rps6kl1	T	C	12: 85,196,566 (GRCm39)	I33V	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,148,156 (GRCm39)	S110G	probably damaging	Het
Sdk2	C	A	11: 113,784,267 (GRCm39)	K157N	possibly damaging	Het
Serpina1d	A	T	12: 103,733,815 (GRCm39)	V163D	probably damaging	Het
Serpina3g	T	C	12: 104,205,428 (GRCm39)	S56P	probably benign	Het
Slc4a4	T	C	5: 89,318,640 (GRCm39)	L636P	probably benign	Het
Slc6a1	T	C	6: 114,288,863 (GRCm39)	F474S	probably benign	Het
Slco6d1	A	G	1: 98,356,141 (GRCm39)	D235G	probably damaging	Het
Srgn	A	T	10: 62,330,763 (GRCm39)	M114K	possibly damaging	Het
Syne3	A	T	12: 104,929,491 (GRCm39)	V243E	probably damaging	Het
Tbc1d5	T	C	17: 51,106,892 (GRCm39)		probably benign	Het
Tcf19	A	G	17: 35,825,804 (GRCm39)	F118L	probably damaging	Het
Tln2	A	T	9: 67,165,742 (GRCm39)		probably null	Het
Tnxb	A	G	17: 34,907,672 (GRCm39)	T1239A	probably damaging	Het
Traip	A	G	9: 107,848,241 (GRCm39)	I453M	probably benign	Het
Usp5	T	C	6: 124,801,409 (GRCm39)		probably benign	Het
Vmn1r157	C	T	7: 22,461,210 (GRCm39)	A30V	probably damaging	Het
Vmn1r233	G	A	17: 21,214,125 (GRCm39)	A275V	probably benign	Het
Vps13d	G	A	4: 144,822,854 (GRCm39)	R2976*	probably null	Het
Wdr75	T	C	1: 45,858,795 (GRCm39)	F655L	probably benign	Het
Wwp1	A	G	4: 19,650,114 (GRCm39)		probably null	Het
Zc3h4	T	C	7: 16,166,909 (GRCm39)	L747P	unknown	Het
Zfp268	G	A	4: 145,349,126 (GRCm39)	D188N	possibly damaging	Het

Other mutations in Prss44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00469:Prss44	APN	9	110,644,557 (GRCm39)	missense	probably benign	0.04
IGL01647:Prss44	APN	9	110,643,745 (GRCm39)	missense	probably damaging	1.00
IGL02174:Prss44	APN	9	110,646,199 (GRCm39)	missense	probably damaging	1.00
BB008:Prss44	UTSW	9	110,643,746 (GRCm39)	missense	probably damaging	1.00
BB018:Prss44	UTSW	9	110,643,746 (GRCm39)	missense	probably damaging	1.00
R1800:Prss44	UTSW	9	110,646,272 (GRCm39)	missense	probably damaging	1.00
R1858:Prss44	UTSW	9	110,643,177 (GRCm39)	missense	probably benign	0.44
R3884:Prss44	UTSW	9	110,643,764 (GRCm39)	missense	possibly damaging	0.63
R6638:Prss44	UTSW	9	110,646,271 (GRCm39)	missense	probably damaging	1.00
R6746:Prss44	UTSW	9	110,644,361 (GRCm39)	makesense	probably null
R7267:Prss44	UTSW	9	110,645,611 (GRCm39)	missense	probably damaging	0.99
R7332:Prss44	UTSW	9	110,644,530 (GRCm39)	missense	probably damaging	1.00
R7698:Prss44	UTSW	9	110,646,379 (GRCm39)	missense	probably benign	0.02
R8880:Prss44	UTSW	9	110,643,263 (GRCm39)	missense	probably benign	0.11
R8935:Prss44	UTSW	9	110,645,527 (GRCm39)	missense	probably damaging	1.00
R9122:Prss44	UTSW	9	110,646,362 (GRCm39)	missense	probably damaging	0.99
R9613:Prss44	UTSW	9	110,643,806 (GRCm39)	missense	probably damaging	1.00
Z1176:Prss44	UTSW	9	110,643,135 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGATGAGTCTTTGAGATCCACTC -3'
(R):5'- AGTGTCATCTTGTGCCCAC -3'

Sequencing Primer
(F):5'- ACCTGCCCTGGGATTTTCGG -3'
(R):5'- TGGCCTGGAAACTCACTATG -3'

Posted On

2020-08-07