Mutagenetix > Incidental Mutation

Incidental Mutation 'R6280:Spint1'

507874

Institutional Source

Beutler Lab

Gene Symbol

Spint1

Ensembl Gene

ENSMUSG00000027315

Gene Name

serine protease inhibitor, Kunitz type 1

Synonyms

HAI-1

MMRRC Submission

044450-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119067841-119079995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119075759 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 194 (V194E)

Ref Sequence

ENSEMBL: ENSMUSP00000106441 (fasta)

Gene Model

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

AlphaFold

Q9R097

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028783
AA Change: V194E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028783
Gene: ENSMUSG00000027315
AA Change: V194E

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

possibly damaging
Transcript: ENSMUST00000110816
AA Change: V194E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106440
Gene: ENSMUSG00000027315
AA Change: V194E

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

possibly damaging
Transcript: ENSMUST00000110817
AA Change: V194E

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106441
Gene: ENSMUSG00000027315
AA Change: V194E

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

0.2606

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	C	T	1: 71,311,619 (GRCm39)	D1930N	probably benign	Het
Adam8	A	G	7: 139,564,720 (GRCm39)	L667S	probably damaging	Het
Adcy4	A	T	14: 56,016,500 (GRCm39)	I317N	probably damaging	Het
Agpat3	A	G	10: 78,120,872 (GRCm39)	F102S	probably damaging	Het
Apbb2	A	T	5: 66,522,325 (GRCm39)	W443R	probably damaging	Het
BC049715	T	A	6: 136,817,229 (GRCm39)	Y156*	probably null	Het
Bpifc	C	T	10: 85,813,576 (GRCm39)	V323I	probably benign	Het
Camp	T	G	9: 109,676,577 (GRCm39)	I149L	probably benign	Het
Cfap20dc	T	G	14: 8,473,414 (GRCm38)		probably null	Het
Cibar2	A	G	8: 120,898,858 (GRCm39)	I94T	possibly damaging	Het
Cnih1	A	G	14: 47,025,634 (GRCm39)		probably null	Het
Col18a1	A	T	10: 76,948,323 (GRCm39)		probably benign	Het
Dsg4	A	T	18: 20,599,724 (GRCm39)	D780V	probably damaging	Het
Dync1i1	G	A	6: 5,972,084 (GRCm39)	V442I	probably benign	Het
Fam83g	G	T	11: 61,594,008 (GRCm39)	S514I	probably benign	Het
Fbxo7	A	G	10: 85,864,969 (GRCm39)	N93D	probably benign	Het
Fgf20	G	T	8: 40,734,153 (GRCm39)	S76*	probably null	Het
Foxi1	A	G	11: 34,157,972 (GRCm39)	F18L	probably damaging	Het
Fxr1	G	A	3: 34,100,401 (GRCm39)		probably benign	Het
Gon4l	T	A	3: 88,798,195 (GRCm39)	L800H	probably damaging	Het
Gpn3	T	A	5: 122,512,022 (GRCm39)	S33T	probably benign	Het
Gria4	T	C	9: 4,456,072 (GRCm39)	M743V	probably damaging	Het
Hira	A	G	16: 18,729,457 (GRCm39)	N109D	probably damaging	Het
Hsd3b3	A	G	3: 98,660,621 (GRCm39)		probably null	Het
Hsf2	T	G	10: 57,387,591 (GRCm39)	S370A	probably benign	Het
Htt	T	A	5: 35,028,103 (GRCm39)	D1786E	probably benign	Het
Ifit1bl2	T	A	19: 34,597,534 (GRCm39)	R27S	possibly damaging	Het
Il17rb	G	A	14: 29,724,928 (GRCm39)	A186V	probably benign	Het
Irak4	G	T	15: 94,449,691 (GRCm39)	E57*	probably null	Het
Kcnh2	T	A	5: 24,536,921 (GRCm39)	H221L	probably benign	Het
Kdm2b	T	C	5: 123,016,687 (GRCm39)	N1149D	probably damaging	Het
Kif26a	A	G	12: 112,141,303 (GRCm39)	H702R	probably damaging	Het
Kmt2e	T	C	5: 23,704,514 (GRCm39)	S1236P	possibly damaging	Het
Krt77	T	A	15: 101,773,910 (GRCm39)	D248V	probably damaging	Het
Lgals3bp	T	C	11: 118,284,106 (GRCm39)	N52S	possibly damaging	Het
Lhfpl6	T	C	3: 53,167,935 (GRCm39)	Y170H	probably damaging	Het
Lpin2	A	G	17: 71,539,243 (GRCm39)		probably benign	Het
Lrig3	T	C	10: 125,846,848 (GRCm39)	I872T	probably benign	Het
Lrit3	T	C	3: 129,582,412 (GRCm39)	E525G	probably damaging	Het
Lrp1	T	C	10: 127,425,453 (GRCm39)	T726A	probably benign	Het
Mep1a	A	T	17: 43,813,283 (GRCm39)	N46K	probably damaging	Het
Muc16	C	A	9: 18,490,613 (GRCm39)		probably null	Het
N4bp1	A	C	8: 87,579,794 (GRCm39)	N669K	possibly damaging	Het
Nelfcd	A	G	2: 174,257,739 (GRCm39)	D26G	probably benign	Het
Neu4	G	A	1: 93,952,873 (GRCm39)	S414N	probably damaging	Het
Nudt9	A	G	5: 104,212,935 (GRCm39)	D336G	probably benign	Het
Obscn	C	A	11: 58,954,509 (GRCm39)	G3691V	possibly damaging	Het
Or4c52	A	C	2: 89,845,393 (GRCm39)	I40L	possibly damaging	Het
Or5t17	A	G	2: 86,832,364 (GRCm39)	N17S	probably damaging	Het
Pdgfd	T	A	9: 6,288,627 (GRCm39)	S94T	probably benign	Het
Picalm	A	G	7: 89,826,770 (GRCm39)	H290R	probably benign	Het
Pou2f3	A	T	9: 43,050,634 (GRCm39)	L242Q	probably damaging	Het
Pou2f3	G	T	9: 43,050,635 (GRCm39)	L242M	probably damaging	Het
Prkd3	C	T	17: 79,289,360 (GRCm39)	G187D	probably damaging	Het
Pwp1	A	G	10: 85,710,326 (GRCm39)	S49G	probably damaging	Het
Ralgapa2	A	G	2: 146,184,129 (GRCm39)	L1626P	probably damaging	Het
Resf1	T	C	6: 149,228,555 (GRCm39)	S534P	probably damaging	Het
Rin2	A	G	2: 145,702,939 (GRCm39)	Y545C	probably damaging	Het
Rwdd4a	A	G	8: 47,995,832 (GRCm39)	T71A	probably benign	Het
Senp7	T	C	16: 55,982,738 (GRCm39)	F504L	possibly damaging	Het
Slc12a6	A	G	2: 112,167,703 (GRCm39)	T231A	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc34a1	A	G	13: 24,006,377 (GRCm39)	S468G	probably benign	Het
Slc4a10	A	G	2: 62,112,310 (GRCm39)	N697S	probably benign	Het
Sptlc2	A	T	12: 87,434,905 (GRCm39)	M14K	probably benign	Het
Stard9	A	G	2: 120,531,608 (GRCm39)	K2622E	probably benign	Het
Tbc1d5	T	C	17: 51,089,338 (GRCm39)	N614S	probably benign	Het
Tdpoz2	A	T	3: 93,559,190 (GRCm39)	C261S	probably benign	Het
Tmem150b	A	T	7: 4,727,373 (GRCm39)	I44N	probably benign	Het
Ttn	A	G	2: 76,608,502 (GRCm39)	L17807P	probably damaging	Het
Vcan	G	A	13: 89,873,492 (GRCm39)	R121W	probably damaging	Het
Vmn2r15	T	A	5: 109,441,291 (GRCm39)	H189L	possibly damaging	Het
Vmn2r19	A	G	6: 123,313,212 (GRCm39)	S761G	probably benign	Het
Wdr11	A	T	7: 129,200,830 (GRCm39)	K34*	probably null	Het
Zfp120	A	T	2: 149,959,964 (GRCm39)	S141R	possibly damaging	Het
Zfp462	C	G	4: 55,010,253 (GRCm39)	P740A	probably benign	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
R0691:Spint1	UTSW	2	119,076,948 (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
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'- ACCACTCGTCTCGTTTACGG -3'
(R):5'- GTTTTCTCTATACACGACACTGGTC -3'

Sequencing Primer
(F):5'- ACTCGTCTCGTTTACGGTTAATTC -3'
(R):5'- ACACTGGTCATGAAGCCTG -3'

Posted On

2018-03-15