Mutagenetix > Incidental Mutation

Incidental Mutation 'R8674:Spint4'

661292

Institutional Source

Beutler Lab

Gene Symbol

Spint4

Ensembl Gene

ENSMUSG00000017310

Gene Name

serine protease inhibitor, Kunitz type 4

Synonyms

Spint4, 9230105I15Rik

MMRRC Submission

068529-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8674 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

164540421-164544368 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 164542902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017454]

AlphaFold

Q9D263

Predicted Effect

probably null
Transcript: ENSMUST00000017454

SMART Domains

Protein: ENSMUSP00000017454
Gene: ENSMUSG00000017310

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
KU	39	92	7.17e-16	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	T	C	12: 72,956,696 (GRCm39)	I165V	probably benign	Het
Adgrg1	A	T	8: 95,727,526 (GRCm39)		probably benign	Het
Ahnak	T	C	19: 8,983,360 (GRCm39)	I1548T	probably damaging	Het
Alox12b	A	G	11: 69,054,801 (GRCm39)	Y268C	possibly damaging	Het
Chd8	T	C	14: 52,450,463 (GRCm39)	D1465G	probably damaging	Het
Csgalnact1	A	G	8: 68,826,268 (GRCm39)	V350A	possibly damaging	Het
Cyp4a29	A	T	4: 115,106,882 (GRCm39)	I180F	probably benign	Het
Dcaf1	T	A	9: 106,740,896 (GRCm39)	D1294E	probably damaging	Het
Defb47	T	C	14: 63,235,579 (GRCm39)	L10P	possibly damaging	Het
Gpr179	T	C	11: 97,225,873 (GRCm39)	E2094G	probably benign	Het
Gtse1	C	A	15: 85,746,376 (GRCm39)	P64Q	probably damaging	Het
Gys2	A	G	6: 142,376,048 (GRCm39)	V538A	probably benign	Het
Hmgxb3	G	A	18: 61,269,303 (GRCm39)	S993L	probably benign	Het
Lgals8	A	T	13: 12,462,117 (GRCm39)	F238I	probably damaging	Het
Ltn1	A	C	16: 87,195,673 (GRCm39)	D1284E	probably benign	Het
Myh10	A	G	11: 68,705,257 (GRCm39)	E1925G	probably damaging	Het
Nck1	T	C	9: 100,390,580 (GRCm39)	N43S	probably damaging	Het
Nsun5	C	A	5: 135,400,394 (GRCm39)	T145N	probably damaging	Het
Or10d1	T	C	9: 39,484,249 (GRCm39)	Y102C	probably damaging	Het
Or10d3	A	G	9: 39,461,675 (GRCm39)	F164S	probably damaging	Het
Or10x4	A	G	1: 174,219,258 (GRCm39)	T208A	probably damaging	Het
Or4c103	T	A	2: 88,513,774 (GRCm39)	T101S	probably benign	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Ppp4r4	A	G	12: 103,562,720 (GRCm39)	E563G	probably damaging	Het
Pramel42	T	C	5: 94,685,605 (GRCm39)	C422R	probably damaging	Het
Rab11fip5	T	A	6: 85,318,910 (GRCm39)	M660L	probably benign	Het
Rbm47	T	A	5: 66,176,742 (GRCm39)	N527I	possibly damaging	Het
Rpl12	T	A	2: 32,852,122 (GRCm39)		probably benign	Het
Slc22a14	C	A	9: 119,007,467 (GRCm39)	W314L	probably null	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Sphkap	A	G	1: 83,255,565 (GRCm39)	V728A	probably benign	Het
Sptbn1	A	G	11: 30,089,352 (GRCm39)	S637P	possibly damaging	Het
Trpm7	T	C	2: 126,641,086 (GRCm39)		probably benign	Het
Trrap	C	T	5: 144,727,842 (GRCm39)	T521I	probably benign	Het
Vmn2r44	T	C	7: 8,380,822 (GRCm39)	Y357C	probably damaging	Het
Vwa2	A	G	19: 56,875,427 (GRCm39)	D82G	possibly damaging	Het
Zdhhc17	A	G	10: 110,785,540 (GRCm39)	I424T	probably benign	Het
Zmiz1	A	G	14: 25,647,410 (GRCm39)	I409M	probably benign	Het
Zscan18	T	C	7: 12,504,827 (GRCm39)		probably benign	Het

Other mutations in Spint4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1464:Spint4	UTSW	2	164,540,568 (GRCm39)	missense	probably damaging	1.00
R1464:Spint4	UTSW	2	164,540,568 (GRCm39)	missense	probably damaging	1.00
R4750:Spint4	UTSW	2	164,542,066 (GRCm39)	missense	probably damaging	1.00
R5292:Spint4	UTSW	2	164,542,779 (GRCm39)	missense	probably benign	0.01
R5510:Spint4	UTSW	2	164,542,812 (GRCm39)	missense	probably damaging	0.98
R5619:Spint4	UTSW	2	164,542,761 (GRCm39)	missense	probably benign	0.10
R5978:Spint4	UTSW	2	164,542,252 (GRCm39)	missense	probably damaging	0.97
R6479:Spint4	UTSW	2	164,542,764 (GRCm39)	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TTCTCTAAGAGCATTGGCAACC -3'
(R):5'- AGTGGATCTACAACTGAAGACTGTC -3'

Sequencing Primer
(F):5'- CCAAGAACCTTGCTACGGATTGG -3'
(R):5'- GCCTGACTGTTTACAAGCTTAG -3'

Posted On

2021-03-08