Mutagenetix > Incidental Mutation

Incidental Mutation 'R9122:Prss44'

692827

Institutional Source

Beutler Lab

Gene Symbol

Prss44

Ensembl Gene

ENSMUSG00000032493

Gene Name

serine protease 44

Synonyms

1700036D21Rik, TESSP4

MMRRC Submission

068924-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9122 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110642987-110647067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110646362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 363 (V363A)

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: V363A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095948
Gene: ENSMUSG00000032493
AA Change: V363A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000141089

SMART Domains

Protein: ENSMUSP00000117039
Gene: ENSMUSG00000032493

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% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Armh4	A	T	14: 50,011,459 (GRCm39)	Y83N	possibly damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cacna1d	C	A	14: 29,845,402 (GRCm39)	R611L	probably damaging	Het
Cacna1d	G	A	14: 29,852,125 (GRCm39)	T498I	probably benign	Het
Cc2d2a	T	A	5: 43,831,081 (GRCm39)	D57E	probably null	Het
Cd180	C	A	13: 102,841,517 (GRCm39)	L188M	probably damaging	Het
Chd7	A	G	4: 8,840,510 (GRCm39)	K1426R	possibly damaging	Het
Cntnap5c	A	T	17: 58,411,601 (GRCm39)	D495V	probably benign	Het
Col11a1	T	A	3: 113,907,249 (GRCm39)	M630K	unknown	Het
Cxxc1	T	G	18: 74,350,246 (GRCm39)	D4E	probably benign	Het
Ddx31	G	A	2: 28,748,753 (GRCm39)	R227Q	probably damaging	Het
Ddx60	A	G	8: 62,442,898 (GRCm39)	M1109V	probably benign	Het
Dennd5b	T	C	6: 148,908,240 (GRCm39)	T1018A		Het
Efcab3	A	T	11: 104,856,605 (GRCm39)	D3840V	unknown	Het
Ggta1	A	T	2: 35,303,336 (GRCm39)		probably null	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gpr37l1	C	T	1: 135,095,209 (GRCm39)	V12I	probably benign	Het
Grin2a	A	T	16: 9,397,186 (GRCm39)	V967E	possibly damaging	Het
H2ac25	T	C	11: 58,845,667 (GRCm39)	L35P	probably damaging	Het
Helz	A	G	11: 107,556,830 (GRCm39)	T1283A	probably benign	Het
Ints1	A	G	5: 139,745,930 (GRCm39)	M1315T	possibly damaging	Het
Klri1	T	A	6: 129,693,995 (GRCm39)	R31*	probably null	Het
Nadk	T	A	4: 155,671,275 (GRCm39)	N226K	probably benign	Het
Ncapg	T	C	5: 45,846,015 (GRCm39)	F624S	possibly damaging	Het
Nxn	A	T	11: 76,169,317 (GRCm39)	I154N	probably damaging	Het
Pclo	T	C	5: 14,729,998 (GRCm39)	V2952A	unknown	Het
Poc1a	T	C	9: 106,162,242 (GRCm39)	V89A	probably benign	Het
Pou2f2	T	A	7: 24,792,302 (GRCm39)	T518S	probably benign	Het
Pou5f1	C	T	17: 35,819,953 (GRCm39)	T7I	probably benign	Het
Rhobtb1	T	C	10: 69,106,653 (GRCm39)	V468A	probably damaging	Het
Slc24a1	C	A	9: 64,834,478 (GRCm39)	M981I	probably benign	Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tle3	C	T	9: 61,314,755 (GRCm39)		probably benign	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trgv1	G	A	13: 19,524,330 (GRCm39)	G18E	probably damaging	Het
Trim23	A	G	13: 104,317,681 (GRCm39)	T61A	probably benign	Het
Tshr	C	A	12: 91,478,737 (GRCm39)	H195N	probably benign	Het
Ttn	A	G	2: 76,712,151 (GRCm39)	S8202P	unknown	Het
Ufsp2	A	T	8: 46,438,441 (GRCm39)	Y248F	probably benign	Het
Vmn2r12	T	A	5: 109,240,910 (GRCm39)	I68L	probably benign	Het
Wdfy3	C	A	5: 102,091,831 (GRCm39)	V503L	probably damaging	Het
Zfp788	A	T	7: 41,299,919 (GRCm39)	K852*	probably null	Het
Zfp980	A	C	4: 145,428,834 (GRCm39)	H521P	probably 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
R7931:Prss44	UTSW	9	110,643,746 (GRCm39)	missense	probably damaging	1.00
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
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'- TTTAATAAAACGTGGGTGCAGGTAG -3'
(R):5'- AGCACAGCCTTAGTACAGTGG -3'

Sequencing Primer
(F):5'- CAGGTAGGGATCGTGAGCTG -3'
(R):5'- CACAGCCTTAGTACAGTGGTATCTG -3'

Posted On

2021-12-30