Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:S100pbp'

683620

Institutional Source

Beutler Lab

Gene Symbol

S100pbp

Ensembl Gene

ENSMUSG00000040928

Gene Name

S100P binding protein

Synonyms

4930429A08Rik

MMRRC Submission

068812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R8979 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129041795-129083485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 129076133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000039820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049081] [ENSMUST00000072431] [ENSMUST00000106059] [ENSMUST00000106061] [ENSMUST00000117350] [ENSMUST00000117497] [ENSMUST00000117965]

AlphaFold

Q9D5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049081
AA Change: D64G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039820
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	382	4.4e-194	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072431
AA Change: D64G

PolyPhen 2 Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000072258
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	108	1.6e-36	PFAM
Pfam:S100PBPR	107	162	2.1e-17	PFAM
Pfam:S100PBPR	153	304	6.6e-87	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106059
AA Change: D64G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101674
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	67	1.2e-23	PFAM
Pfam:S100PBPR	66	121	1.1e-17	PFAM
Pfam:S100PBPR	112	263	4.9e-87	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106061
AA Change: D64G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101676
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	382	8.5e-193	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117350
AA Change: D64G

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113214
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	337	1.4e-147	PFAM
low complexity region	353	366	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000113084
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	198	2.4e-83	PFAM
Pfam:S100PBPR	189	327	1.1e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000117965
AA Change: D64G

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113920
Gene: ENSMUSG00000040928
AA Change: D64G

Domain	Start	End	E-Value	Type
Pfam:S100PBPR	21	198	2.4e-83	PFAM
Pfam:S100PBPR	189	327	1.1e-77	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that was originally identified by its interaction with S100 calcium-binding protein P. Expression of this protein has been reported to be associated with pancreatic ductal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,545 (GRCm39)	R353S	probably damaging	Het
Ablim3	C	T	18: 61,982,397 (GRCm39)	V183I	probably benign	Het
Adgrb3	T	A	1: 25,527,115 (GRCm39)	Q607L	probably benign	Het
Adgrl1	A	G	8: 84,665,015 (GRCm39)	D1234G	probably benign	Het
Alms1	A	G	6: 85,598,009 (GRCm39)	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,246,969 (GRCm39)	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,717,899 (GRCm39)	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,847,340 (GRCm39)	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,947 (GRCm39)	Y380H	probably benign	Het
Ciapin1	A	T	8: 95,549,753 (GRCm39)	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,380,537 (GRCm39)	E151G	probably benign	Het
Cngb1	G	A	8: 96,004,913 (GRCm39)		probably benign	Het
Cntln	T	A	4: 85,048,910 (GRCm39)	V240E	probably damaging	Het
Cog5	A	G	12: 31,840,894 (GRCm39)	T240A	probably benign	Het
Col5a3	G	A	9: 20,686,597 (GRCm39)	P1343S	unknown	Het
Cspp1	T	A	1: 10,134,630 (GRCm39)	S127T	probably benign	Het
Dnah9	T	G	11: 65,895,978 (GRCm39)	M2466L	probably benign	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,013,197 (GRCm39)	W247R	probably damaging	Het
Gbp4	G	A	5: 105,267,248 (GRCm39)	T557M	probably benign	Het
Ide	G	A	19: 37,302,711 (GRCm39)	A133V		Het
Il2rb	C	A	15: 78,376,052 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,448,951 (GRCm39)	E519G	probably benign	Het
Kifc1	A	G	17: 34,102,228 (GRCm39)	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Llgl1	C	T	11: 60,601,129 (GRCm39)	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,393,833 (GRCm39)	V531L	possibly damaging	Het
Mid1	C	G	X: 168,768,003 (GRCm39)	P384A	probably benign	Het
Mid1	G	A	X: 168,768,009 (GRCm39)	A386T	probably benign	Het
Mms22l	C	T	4: 24,580,070 (GRCm39)	L760F	probably benign	Het
Mplkipl1	A	G	19: 61,164,169 (GRCm39)	Y89H	probably damaging	Het
Mst1r	C	T	9: 107,792,478 (GRCm39)	R951C	probably damaging	Het
Naalad2	G	A	9: 18,242,146 (GRCm39)	T586M	probably damaging	Het
Or4c108	C	T	2: 88,804,173 (GRCm39)	V21I	probably benign	Het
Oxct2b	A	G	4: 123,011,169 (GRCm39)	N363S	probably benign	Het
Padi6	T	G	4: 140,466,474 (GRCm39)	N145T	probably benign	Het
Plcl2	T	A	17: 50,947,145 (GRCm39)	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,496,818 (GRCm39)	S435P	probably damaging	Het
Prkacb	C	A	3: 146,518,411 (GRCm39)	G10C	probably benign	Het
Psg29	A	T	7: 16,937,544 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Ptpro	A	G	6: 137,345,140 (GRCm39)	I49V	probably benign	Het
Rassf1	A	G	9: 107,429,004 (GRCm39)	D70G	probably benign	Het
Rbm24	A	T	13: 46,572,531 (GRCm39)	T9S	probably damaging	Het
Rp1	T	C	1: 4,218,937 (GRCm39)	T948A	unknown	Het
Ryr2	A	T	13: 11,609,924 (GRCm39)	C4301S	probably benign	Het
Samd3	A	G	10: 26,120,428 (GRCm39)	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,141,277 (GRCm39)	K65*	probably null	Het
Shoc1	T	C	4: 59,047,276 (GRCm39)	T1448A	possibly damaging	Het
Slc51b	T	C	9: 65,320,210 (GRCm39)	N86D	probably benign	Het
Slc6a3	G	A	13: 73,715,720 (GRCm39)	V452I	probably benign	Het
Sobp	A	G	10: 42,896,976 (GRCm39)		probably null	Het
Spats2	T	C	15: 99,110,123 (GRCm39)	S507P	possibly damaging	Het
Spns3	C	T	11: 72,420,416 (GRCm39)	A357T	probably damaging	Het
Suox	A	T	10: 128,507,367 (GRCm39)	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,061,809 (GRCm39)	S1106C	probably benign	Het
Tbx1	T	C	16: 18,406,745 (GRCm39)	D9G	unknown	Het
Tcaf2	A	T	6: 42,601,404 (GRCm39)	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,593,262 (GRCm39)	T73A	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem233	T	A	5: 116,221,260 (GRCm39)		probably benign	Het
Tnfrsf11a	A	G	1: 105,754,825 (GRCm39)	D299G	possibly damaging	Het
Trim32	T	C	4: 65,531,692 (GRCm39)	V83A	possibly damaging	Het
Unc13a	A	T	8: 72,113,125 (GRCm39)	M242K	probably benign	Het
Vat1	C	T	11: 101,353,041 (GRCm39)	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,453,892 (GRCm39)	V186D	possibly damaging	Het
Wdfy3	A	G	5: 102,096,764 (GRCm39)	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,766,003 (GRCm39)	T1510I	probably benign	Het

Other mutations in S100pbp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:S100pbp	APN	4	129,075,901 (GRCm39)	missense	possibly damaging	0.94
IGL02302:S100pbp	APN	4	129,076,234 (GRCm39)	missense	probably damaging	1.00
IGL02554:S100pbp	APN	4	129,075,644 (GRCm39)	splice site	probably null
R0068:S100pbp	UTSW	4	129,038,249 (GRCm39)	unclassified	probably benign
R1720:S100pbp	UTSW	4	129,075,886 (GRCm39)	missense	probably damaging	1.00
R2058:S100pbp	UTSW	4	129,075,893 (GRCm39)	missense	probably benign	0.02
R2415:S100pbp	UTSW	4	129,075,614 (GRCm39)	missense	possibly damaging	0.67
R2762:S100pbp	UTSW	4	129,049,219 (GRCm39)	nonsense	probably null
R4815:S100pbp	UTSW	4	129,044,726 (GRCm39)	unclassified	probably benign
R5537:S100pbp	UTSW	4	129,075,981 (GRCm39)	missense	probably benign	0.39
R7113:S100pbp	UTSW	4	129,075,896 (GRCm39)	missense	probably damaging	0.96
R7384:S100pbp	UTSW	4	129,075,702 (GRCm39)	missense	probably benign	0.02
R7453:S100pbp	UTSW	4	129,075,878 (GRCm39)	missense	probably damaging	1.00
R8839:S100pbp	UTSW	4	129,076,000 (GRCm39)	critical splice donor site	probably null
R9109:S100pbp	UTSW	4	129,044,847 (GRCm39)	missense	probably damaging	1.00
R9298:S100pbp	UTSW	4	129,044,847 (GRCm39)	missense	probably damaging	1.00
R9686:S100pbp	UTSW	4	129,049,271 (GRCm39)	missense	probably damaging	0.96
Z1176:S100pbp	UTSW	4	129,044,750 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- AAATGGTGCGACAACAGTTAC -3'
(R):5'- CTCTGAACAGTCTTCTGGTGC -3'

Sequencing Primer
(F):5'- GGTGCGACAACAGTTACTTTTATAAG -3'
(R):5'- GCCTCTTTTCTGCCTAAAAGCAATG -3'

Posted On

2021-10-11