Mutagenetix > Incidental Mutation

Incidental Mutation 'R9686:S100pbp'

728834

Institutional Source

Beutler Lab

Gene Symbol

S100pbp

Ensembl Gene

ENSMUSG00000040928

Gene Name

S100P binding protein

Synonyms

4930429A08Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9686 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

129041795-129083485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 129049271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 332 (D332E)

Ref Sequence

ENSEMBL: ENSMUSP00000039820 (fasta)

Gene Model

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

AlphaFold

Q9D5K4

Predicted Effect

probably damaging
Transcript: ENSMUST00000049081
AA Change: D332E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000039820
Gene: ENSMUSG00000040928
AA Change: D332E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072431
AA Change: D254E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072258
Gene: ENSMUSG00000040928
AA Change: D254E

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

probably damaging
Transcript: ENSMUST00000106059
AA Change: D213E

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101674
Gene: ENSMUSG00000040928
AA Change: D213E

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: D332E

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101676
Gene: ENSMUSG00000040928
AA Change: D332E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117497
AA Change: D290E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113084
Gene: ENSMUSG00000040928
AA Change: D290E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117965
AA Change: D290E

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113920
Gene: ENSMUSG00000040928
AA Change: D290E

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,247,867 (GRCm39)	F1209L	probably benign	Het
Adamts19	A	G	18: 58,971,093 (GRCm39)	T226A	probably benign	Het
Akap13	A	G	7: 75,236,084 (GRCm39)	T220A	probably damaging	Het
Ank2	T	A	3: 126,740,550 (GRCm39)	E1778V	unknown	Het
Aspn	T	C	13: 49,710,829 (GRCm39)	I158T	probably damaging	Het
Btbd1	A	G	7: 81,455,598 (GRCm39)	C258R	probably damaging	Het
Btla	A	G	16: 45,070,872 (GRCm39)	N278S	probably damaging	Het
Cap2	A	G	13: 46,678,926 (GRCm39)	E12G	probably damaging	Het
Ccdc171	A	G	4: 83,467,919 (GRCm39)	Y88C	probably damaging	Het
Ceacam3	C	T	7: 16,892,123 (GRCm39)	L289F		Het
Cenpj	G	A	14: 56,790,048 (GRCm39)	A667V	probably benign	Het
Clu	G	T	14: 66,212,454 (GRCm39)	G136C	probably damaging	Het
Col4a4	A	T	1: 82,474,962 (GRCm39)	F626I	unknown	Het
Csf2ra	A	G	19: 61,213,629 (GRCm39)	F360S	probably damaging	Het
Cyp27b1	T	A	10: 126,886,185 (GRCm39)	S289T	probably benign	Het
Dnah17	G	T	11: 117,979,048 (GRCm39)	H1781Q	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fap	T	C	2: 62,403,857 (GRCm39)	K6R	possibly damaging	Het
Fcer1a	A	G	1: 173,052,980 (GRCm39)	V72A	possibly damaging	Het
Flnc	T	C	6: 29,456,434 (GRCm39)	S2211P	possibly damaging	Het
Gm20939	A	T	17: 95,184,888 (GRCm39)	H512L	probably damaging	Het
Gng12	T	C	6: 66,994,529 (GRCm39)	S59P	probably damaging	Het
Grin1	A	C	2: 25,203,522 (GRCm39)	I163S	probably benign	Het
Haus5	A	G	7: 30,361,398 (GRCm39)	I74T	probably benign	Het
Hmcn1	G	A	1: 150,613,356 (GRCm39)	P1357L	probably damaging	Het
Kcnv1	A	G	15: 44,972,500 (GRCm39)	I461T	probably benign	Het
Kmo	A	G	1: 175,459,786 (GRCm39)	M1V	probably null	Het
Krt80	G	A	15: 101,262,281 (GRCm39)	R107C	probably damaging	Het
Macf1	A	G	4: 123,377,491 (GRCm39)	V1481A	possibly damaging	Het
Masp1	A	G	16: 23,314,887 (GRCm39)	S125P	probably damaging	Het
Mroh2b	C	T	15: 4,974,605 (GRCm39)	P1195L	probably benign	Het
Neurl3	A	T	1: 36,305,539 (GRCm39)	W223R	probably benign	Het
Or10h28	A	G	17: 33,487,853 (GRCm39)	T52A	probably benign	Het
Or5g27	T	A	2: 85,410,340 (GRCm39)	Y252*	probably null	Het
Or5k1b	T	C	16: 58,581,126 (GRCm39)	K138E	possibly damaging	Het
Or5m9	A	T	2: 85,877,335 (GRCm39)	I170F	probably benign	Het
Pcdhb4	A	C	18: 37,442,943 (GRCm39)	Y751S	probably damaging	Het
Pcnx2	C	A	8: 126,592,766 (GRCm39)	A733S	probably benign	Het
Pde4a	A	G	9: 21,117,562 (GRCm39)	E608G	probably benign	Het
Pfdn2	G	A	1: 171,185,377 (GRCm39)	E98K	unknown	Het
Pikfyve	T	A	1: 65,291,615 (GRCm39)	V1278D	probably damaging	Het
Ptprb	A	T	10: 116,204,694 (GRCm39)	T1843S	probably damaging	Het
Rab12	G	T	17: 66,826,513 (GRCm39)	A66E	probably benign	Het
Ralyl	T	C	3: 13,841,887 (GRCm39)		probably benign	Het
Rbm47	A	T	5: 66,179,969 (GRCm39)		probably null	Het
Rev3l	T	A	10: 39,743,384 (GRCm39)	D3038E	possibly damaging	Het
Rhobtb2	A	G	14: 70,034,005 (GRCm39)	F407L	probably benign	Het
Slc9c1	T	C	16: 45,400,577 (GRCm39)	V729A	possibly damaging	Het
Slfn5	A	T	11: 82,848,001 (GRCm39)	E295D	probably benign	Het
Smarcc2	A	G	10: 128,316,775 (GRCm39)	S518G	probably damaging	Het
Sorbs1	T	C	19: 40,381,954 (GRCm39)	D29G	probably damaging	Het
Spata13	G	A	14: 60,989,108 (GRCm39)	E925K	probably damaging	Het
Spen	A	G	4: 141,199,946 (GRCm39)	S2894P	probably benign	Het
Taar7a	G	A	10: 23,869,309 (GRCm39)	T24I	probably benign	Het
Taf4b	C	A	18: 14,932,215 (GRCm39)	T189N	possibly damaging	Het
Tle7	T	A	8: 110,836,563 (GRCm39)	W180R	probably damaging	Het
Ube2o	A	T	11: 116,434,779 (GRCm39)	C561S	probably benign	Het
Usp34	T	A	11: 23,424,351 (GRCm39)	I3213N		Het
Vmn1r103	A	G	7: 20,244,353 (GRCm39)	V36A	possibly damaging	Het
Vmn2r65	G	A	7: 84,590,084 (GRCm39)	L611F	probably benign	Het
Zfp51	C	T	17: 21,683,871 (GRCm39)	S162F	probably damaging	Het
Zfp518b	G	A	5: 38,831,457 (GRCm39)	H183Y	probably damaging	Het
Zfp622	A	G	15: 25,985,141 (GRCm39)	E169G	probably benign	Het
Zfp703	A	G	8: 27,469,044 (GRCm39)	D236G	probably damaging	Het
Zfp839	A	T	12: 110,821,932 (GRCm39)	I249F	probably damaging	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
R8979:S100pbp	UTSW	4	129,076,133 (GRCm39)	missense	probably damaging	0.97
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
Z1176:S100pbp	UTSW	4	129,044,750 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGAATTTCAGTCCCCAATGTCTAG -3'
(R):5'- TCCAGAAGTGGTGTTTCCCTC -3'

Sequencing Primer
(F):5'- AATGTCTAGTTCATTCTAAGGCCCG -3'
(R):5'- GCTTACAGTCTGCTGGTTGAC -3'

Posted On

2022-10-06