Mutagenetix > Incidental Mutation

Incidental Mutation 'R0691:Spint1'

226031

Institutional Source

Beutler Lab

Gene Symbol

Spint1

Ensembl Gene

ENSMUSG00000027315

Gene Name

serine protease inhibitor, Kunitz type 1

Synonyms

HAI-1

MMRRC Submission

038876-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

119067841-119079995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119076948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 344 (E344G)

Ref Sequence

ENSEMBL: ENSMUSP00000106441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028783] [ENSMUST00000110816] [ENSMUST00000110817]

AlphaFold

Q9R097

Predicted Effect

probably damaging
Transcript: ENSMUST00000028783
AA Change: E344G

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

SMART Domains

Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315
AA Change: E344G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110816
AA Change: E344G

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

SMART Domains

Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315
AA Change: E344G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110817
AA Change: E344G

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

SMART Domains

Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315
AA Change: E344G

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
MANEC	39	134	1.18e-39	SMART
Blast:PKD	162	237	6e-19	BLAST
KU	242	295	3.75e-19	SMART
LDLa	312	349	2.12e-8	SMART
KU	367	420	8.04e-19	SMART
transmembrane domain	444	466	N/A	INTRINSIC
low complexity region	474	492	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139903

Meta Mutation Damage Score

0.8743

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.4%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit embryonic lethality at E10.5 or earlier, growth retardation, and widespread cell apoptosis. Placental development is impaired with abnormalities in branching morphogenesis, the formation of the labyrinth layer and placental function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,584,979 (GRCm39)	D865G	possibly damaging	Het
Acy1	A	T	9: 106,313,070 (GRCm39)		probably null	Het
Adcy4	A	T	14: 56,010,104 (GRCm39)		probably benign	Het
Anpep	T	G	7: 79,489,047 (GRCm39)	D347A	probably damaging	Het
Arhgap28	C	T	17: 68,203,159 (GRCm39)		probably null	Het
Ccdc32	A	G	2: 118,857,610 (GRCm39)		probably benign	Het
Cdc42bpa	A	G	1: 179,972,400 (GRCm39)	T1401A	possibly damaging	Het
Celsr2	A	G	3: 108,319,939 (GRCm39)	Y958H	probably damaging	Het
Cenpe	A	G	3: 134,923,066 (GRCm39)	E137G	probably damaging	Het
Chd8	T	C	14: 52,450,890 (GRCm39)	D1399G	probably damaging	Het
Cntn3	T	C	6: 102,145,908 (GRCm39)	T978A	possibly damaging	Het
Col10a1	A	G	10: 34,271,692 (GRCm39)	T555A	possibly damaging	Het
Crybg3	A	C	16: 59,385,574 (GRCm39)		probably null	Het
Cts7	A	G	13: 61,503,548 (GRCm39)	F139L	probably damaging	Het
Dera	T	C	6: 137,773,745 (GRCm39)		probably benign	Het
Dgka	A	G	10: 128,559,129 (GRCm39)		probably benign	Het
Dhrs7	T	A	12: 72,699,125 (GRCm39)	I286F	probably damaging	Het
Dtwd2	A	G	18: 49,861,424 (GRCm39)		probably benign	Het
Fermt1	A	G	2: 132,748,653 (GRCm39)	S657P	probably damaging	Het
Fhip2b	T	C	14: 70,825,727 (GRCm39)	D351G	probably damaging	Het
Flnb	T	C	14: 7,890,810 (GRCm38)	V564A	probably benign	Het
Garnl3	A	G	2: 32,975,919 (GRCm39)	F16L	probably damaging	Het
Gck	T	C	11: 5,856,691 (GRCm39)	R191G	probably damaging	Het
Gucy1b1	A	T	3: 81,952,941 (GRCm39)		probably benign	Het
Ifna2	A	C	4: 88,601,895 (GRCm39)	L41R	probably damaging	Het
Krt33a	T	G	11: 99,903,541 (GRCm39)	E197A	probably damaging	Het
Lce1e	G	A	3: 92,615,063 (GRCm39)	R95C	unknown	Het
Lct	G	T	1: 128,235,971 (GRCm39)	S345R	probably benign	Het
Lrp2	A	T	2: 69,281,724 (GRCm39)	N3882K	probably benign	Het
Mcc	G	T	18: 44,578,927 (GRCm39)	T652K	possibly damaging	Het
Mier1	A	G	4: 102,996,699 (GRCm39)	S109G	probably benign	Het
Nfat5	A	G	8: 108,082,237 (GRCm39)	N469S	probably damaging	Het
Or1e23	C	A	11: 73,407,670 (GRCm39)	M118I	possibly damaging	Het
Or6c214	G	A	10: 129,591,271 (GRCm39)	T16I	probably damaging	Het
Piwil1	G	T	5: 128,820,371 (GRCm39)	R256M	probably null	Het
Rgma	T	C	7: 73,059,160 (GRCm39)	V88A	probably damaging	Het
Sdk2	T	C	11: 113,685,746 (GRCm39)		probably null	Het
Sec22b	A	G	3: 97,819,990 (GRCm39)	E94G	probably damaging	Het
Snrnp70	T	C	7: 45,036,669 (GRCm39)	R131G	possibly damaging	Het
Spata31d1a	A	G	13: 59,848,199 (GRCm39)	S1310P	possibly damaging	Het
Srrm1	G	A	4: 135,052,302 (GRCm39)	Q141*	probably null	Het
Tecta	A	T	9: 42,295,637 (GRCm39)	L286Q	probably damaging	Het
Tep1	T	A	14: 51,104,301 (GRCm39)	K198*	probably null	Het
Tk2	A	G	8: 104,957,824 (GRCm39)	V174A	probably benign	Het
Txndc5	T	C	13: 38,691,872 (GRCm39)	K165E	probably damaging	Het
Ubr4	G	A	4: 139,151,217 (GRCm39)	R1884Q	probably damaging	Het
Vmn2r61	T	C	7: 41,949,844 (GRCm39)	Y755H	probably damaging	Het
Xrn1	T	A	9: 95,855,592 (GRCm39)	H296Q	probably damaging	Het
Zar1l	A	T	5: 150,436,407 (GRCm39)	V223D	probably damaging	Het

Other mutations in Spint1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01351:Spint1	APN	2	119,076,936 (GRCm39)	missense	probably damaging	1.00
IGL02065:Spint1	APN	2	119,068,698 (GRCm39)	missense	probably benign	0.02
R0206:Spint1	UTSW	2	119,078,826 (GRCm39)	splice site	probably benign
R0208:Spint1	UTSW	2	119,078,826 (GRCm39)	splice site	probably benign
R0415:Spint1	UTSW	2	119,076,096 (GRCm39)	missense	probably damaging	1.00
R1236:Spint1	UTSW	2	119,076,054 (GRCm39)	missense	probably benign	0.05
R2190:Spint1	UTSW	2	119,068,661 (GRCm39)	missense	probably benign	0.01
R3890:Spint1	UTSW	2	119,079,283 (GRCm39)	missense	probably benign	0.28
R4599:Spint1	UTSW	2	119,076,941 (GRCm39)	missense	probably damaging	1.00
R6280:Spint1	UTSW	2	119,075,759 (GRCm39)	missense	possibly damaging	0.89
R8739:Spint1	UTSW	2	119,079,286 (GRCm39)	missense	possibly damaging	0.82
R9735:Spint1	UTSW	2	119,076,897 (GRCm39)	missense	probably damaging	1.00
S24628:Spint1	UTSW	2	119,076,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCAGCTTCCTGTCAGATTCTGCC -3'
(R):5'- AGCAGTGCCAGAACCTGTTGTG -3'

Sequencing Primer
(F):5'- AGATTCTGCCCGGTTTACAG -3'
(R):5'- CACCTTTGTCACTGAGGAAATGG -3'

Posted On

2014-09-10