Mutagenetix > Incidental Mutation

Incidental Mutation 'R6647:Shkbp1'

526129

Institutional Source

Beutler Lab

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

SB1, B930062H15Rik

MMRRC Submission

044768-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6647 (G1)

Quality Score

220.009

Status

Validated

Chromosome

Chromosomal Location

27041558-27055444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27041800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 685 (S685P)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003857] [ENSMUST00000038618] [ENSMUST00000108369]

AlphaFold

Q6P7W2

Predicted Effect

probably benign
Transcript: ENSMUST00000003857
AA Change: S685P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: S685P

Domain	Start	End	E-Value	Type
BTB	19	119	1.65e-16	SMART
low complexity region	183	194	N/A	INTRINSIC
Blast:WD40	196	271	1e-21	BLAST
WD40	277	313	1.9e2	SMART
WD40	419	457	3.45e-1	SMART
WD40	527	577	3.68e1	SMART
low complexity region	612	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038618

SMART Domains

Protein: ENSMUSP00000037536
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	87	100	N/A	INTRINSIC
low complexity region	112	125	N/A	INTRINSIC
EGF	151	180	2.74e-3	SMART
low complexity region	244	265	N/A	INTRINSIC
EGF_CA	356	396	3.51e-10	SMART
Pfam:TB	416	457	4.8e-15	PFAM
low complexity region	490	501	N/A	INTRINSIC
low complexity region	507	568	N/A	INTRINSIC
low complexity region	579	590	N/A	INTRINSIC
EGF	591	629	6.06e-5	SMART
EGF_CA	630	671	8.3e-12	SMART
EGF_CA	672	713	7.34e-13	SMART
EGF_CA	714	751	8.43e-13	SMART
EGF_CA	753	794	1.66e-11	SMART
EGF_CA	795	836	3.61e-12	SMART
EGF_CA	837	876	5.61e-9	SMART
EGF_CA	877	919	1.73e-9	SMART
EGF_CA	920	961	7.12e-11	SMART
EGF_CA	962	1002	3.56e-11	SMART
EGF_CA	1003	1046	1.61e-9	SMART
EGF_CA	1047	1090	2.13e-9	SMART
EGF_CA	1091	1132	1.02e-11	SMART
EGF	1136	1175	1.69e1	SMART
low complexity region	1185	1223	N/A	INTRINSIC
Pfam:TB	1234	1276	1.7e-13	PFAM
EGF_CA	1295	1337	2.72e-7	SMART
EGF_CA	1338	1379	1.36e-7	SMART
Pfam:TB	1402	1443	4.3e-14	PFAM
low complexity region	1449	1461	N/A	INTRINSIC
low complexity region	1478	1500	N/A	INTRINSIC
EGF	1578	1615	6.06e-5	SMART
EGF_CA	1616	1660	9.54e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108369

SMART Domains

Protein: ENSMUSP00000104006
Gene: ENSMUSG00000040488

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	116	145	N/A	INTRINSIC
EGF	150	179	2.74e-3	SMART
low complexity region	243	264	N/A	INTRINSIC
EGF_CA	355	395	3.51e-10	SMART
Pfam:TB	414	456	2.5e-14	PFAM
low complexity region	489	500	N/A	INTRINSIC
low complexity region	506	567	N/A	INTRINSIC
low complexity region	578	589	N/A	INTRINSIC
EGF	590	628	6.06e-5	SMART
EGF_CA	629	670	8.3e-12	SMART
EGF_CA	671	712	7.34e-13	SMART
EGF_CA	713	750	8.43e-13	SMART
EGF_CA	752	793	1.66e-11	SMART
EGF_CA	794	835	3.61e-12	SMART
EGF_CA	836	875	5.61e-9	SMART
EGF_CA	876	918	1.73e-9	SMART
EGF_CA	919	960	7.12e-11	SMART
EGF_CA	961	1001	3.56e-11	SMART
EGF_CA	1002	1045	1.61e-9	SMART
EGF_CA	1046	1089	2.13e-9	SMART
EGF_CA	1090	1131	1.02e-11	SMART
EGF	1135	1174	1.69e1	SMART
low complexity region	1184	1222	N/A	INTRINSIC
Pfam:TB	1232	1275	2.4e-13	PFAM
EGF_CA	1294	1336	2.72e-7	SMART
EGF_CA	1337	1378	1.36e-7	SMART
Pfam:TB	1400	1442	7.6e-15	PFAM
low complexity region	1448	1460	N/A	INTRINSIC
low complexity region	1477	1499	N/A	INTRINSIC
EGF	1577	1614	6.06e-5	SMART
EGF_CA	1615	1659	9.54e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132046

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140638

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148933

Meta Mutation Damage Score

0.1025

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.6%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	T	C	3: 116,544,060 (GRCm39)	T1416A	probably damaging	Het
Atp7b	A	G	8: 22,518,494 (GRCm39)	S103P	probably damaging	Het
Ces1h	A	C	8: 94,078,654 (GRCm39)	*563G	probably null	Het
Cfap157	G	T	2: 32,669,086 (GRCm39)	A339E	probably benign	Het
Crebbp	C	T	16: 3,937,670 (GRCm39)	A698T	possibly damaging	Het
Cyp2b13	A	G	7: 25,785,324 (GRCm39)	H231R	possibly damaging	Het
Ddx31	A	T	2: 28,765,750 (GRCm39)	T483S	probably damaging	Het
Defa25	A	T	8: 21,575,201 (GRCm39)	D60V	possibly damaging	Het
Dnah5	G	A	15: 28,403,633 (GRCm39)	A3453T	probably benign	Het
Dnah6	A	T	6: 73,115,743 (GRCm39)	F1500I	probably damaging	Het
Eprs1	C	T	1: 185,146,621 (GRCm39)	A1217V	probably damaging	Het
Ermp1	T	C	19: 29,604,335 (GRCm39)	Y481C	probably benign	Het
Fmn2	T	A	1: 174,420,670 (GRCm39)	N635K	unknown	Het
Fras1	A	G	5: 96,883,061 (GRCm39)	D2531G	probably damaging	Het
Frat1	C	T	19: 41,819,264 (GRCm39)	Q220*	probably null	Het
Gcc2	T	A	10: 58,123,103 (GRCm39)		probably null	Het
Gm3285	T	C	10: 77,698,447 (GRCm39)		probably benign	Het
Gm9857	T	C	3: 108,847,379 (GRCm39)		probably benign	Het
Grin2b	C	A	6: 135,710,108 (GRCm39)	W1146L	probably damaging	Het
Hells	T	A	19: 38,919,948 (GRCm39)	L33I	probably benign	Het
Ift81	T	A	5: 122,748,229 (GRCm39)	R54*	probably null	Het
Ints12	G	A	3: 132,802,639 (GRCm39)	R41Q	possibly damaging	Het
Katnal2	C	T	18: 77,067,733 (GRCm39)	E403K	probably benign	Het
Kcnk1	A	G	8: 126,722,199 (GRCm39)	M1V	probably null	Het
Kdm5a	A	G	6: 120,389,422 (GRCm39)	T950A	probably benign	Het
Kdr	G	A	5: 76,113,549 (GRCm39)	A773V	probably damaging	Het
Lats1	G	C	10: 7,573,271 (GRCm39)	M118I	possibly damaging	Het
Mug1	A	G	6: 121,817,200 (GRCm39)	I90V	probably benign	Het
Nid2	A	G	14: 19,852,484 (GRCm39)	D1064G	probably benign	Het
Nkx2-4	A	T	2: 146,926,187 (GRCm39)	I225N	possibly damaging	Het
Nlrp4e	A	G	7: 23,020,740 (GRCm39)	D409G	probably benign	Het
Ogfod2	G	C	5: 124,252,866 (GRCm39)	R292P	possibly damaging	Het
Oprk1	C	T	1: 5,672,507 (GRCm39)	P215S	probably damaging	Het
Or5d36	A	T	2: 87,901,053 (GRCm39)	F224L	probably benign	Het
Or6c35	T	A	10: 129,169,033 (GRCm39)	C94*	probably null	Het
Or7g27	T	A	9: 19,249,925 (GRCm39)	H56Q	possibly damaging	Het
Or8g21	T	C	9: 38,906,210 (GRCm39)	I174V	possibly damaging	Het
Pcdhb16	A	G	18: 37,612,225 (GRCm39)	K395R	possibly damaging	Het
Ptprg	C	A	14: 11,962,714 (GRCm38)	P171T	probably damaging	Het
Pycard	T	C	7: 127,592,741 (GRCm39)	T29A	probably benign	Het
Rap1gap2	G	A	11: 74,298,754 (GRCm39)	A452V	probably benign	Het
Rasgrf1	C	G	9: 89,892,516 (GRCm39)	T1072S	probably benign	Het
Rc3h2	G	A	2: 37,272,956 (GRCm39)	R707*	probably null	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Senp7	T	C	16: 55,993,618 (GRCm39)	I767T	probably damaging	Het
Setd7	A	G	3: 51,450,183 (GRCm39)	V81A	probably benign	Het
Shisal2a	A	G	4: 108,225,224 (GRCm39)	S113P	probably benign	Het
Snrnp200	A	G	2: 127,068,372 (GRCm39)	E904G	probably damaging	Het
Spata22	T	A	11: 73,245,526 (GRCm39)		probably null	Het
Spata31e2	T	A	1: 26,721,659 (GRCm39)	N1174Y	probably damaging	Het
Tas2r138	G	T	6: 40,589,733 (GRCm39)	T171K	possibly damaging	Het
Tor1aip1	T	C	1: 155,893,999 (GRCm39)	D77G	possibly damaging	Het
Vav3	A	T	3: 109,434,732 (GRCm39)	H421L	probably benign	Het
Vmn1r43	A	G	6: 89,846,841 (GRCm39)	L215P	probably damaging	Het
Vmn2r100	T	A	17: 19,742,785 (GRCm39)	S386R	probably benign	Het
Xpa	T	A	4: 46,183,089 (GRCm39)	R233S	probably benign	Het

Other mutations in Shkbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Shkbp1	APN	7	27,054,676 (GRCm39)	missense	probably benign	0.28
IGL01469:Shkbp1	APN	7	27,055,366 (GRCm39)	missense	probably benign
IGL01787:Shkbp1	APN	7	27,041,875 (GRCm39)	missense	possibly damaging	0.93
IGL02149:Shkbp1	APN	7	27,042,064 (GRCm39)	unclassified	probably benign
IGL02902:Shkbp1	APN	7	27,042,141 (GRCm39)	missense	probably damaging	0.97
R0086:Shkbp1	UTSW	7	27,051,451 (GRCm39)	missense	probably benign	0.00
R0219:Shkbp1	UTSW	7	27,051,486 (GRCm39)	missense	probably benign	0.01
R0485:Shkbp1	UTSW	7	27,048,006 (GRCm39)	missense	probably damaging	1.00
R1036:Shkbp1	UTSW	7	27,044,721 (GRCm39)	missense	possibly damaging	0.86
R1468:Shkbp1	UTSW	7	27,044,751 (GRCm39)	missense	probably damaging	1.00
R1468:Shkbp1	UTSW	7	27,044,751 (GRCm39)	missense	probably damaging	1.00
R1608:Shkbp1	UTSW	7	27,054,204 (GRCm39)	missense	probably benign	0.01
R1757:Shkbp1	UTSW	7	27,041,776 (GRCm39)	missense	probably benign
R1968:Shkbp1	UTSW	7	27,054,825 (GRCm39)	critical splice donor site	probably null
R2763:Shkbp1	UTSW	7	27,046,454 (GRCm39)	missense	probably benign	0.05
R3027:Shkbp1	UTSW	7	27,042,818 (GRCm39)	missense	probably benign	0.18
R3924:Shkbp1	UTSW	7	27,041,827 (GRCm39)	missense	probably benign
R4425:Shkbp1	UTSW	7	27,042,727 (GRCm39)	missense	probably benign	0.38
R5048:Shkbp1	UTSW	7	27,051,521 (GRCm39)	unclassified	probably benign
R5862:Shkbp1	UTSW	7	27,042,829 (GRCm39)	nonsense	probably null
R5955:Shkbp1	UTSW	7	27,041,949 (GRCm39)	missense	probably benign
R6016:Shkbp1	UTSW	7	27,053,826 (GRCm39)	missense	possibly damaging	0.92
R6226:Shkbp1	UTSW	7	27,051,405 (GRCm39)	missense	probably null	1.00
R6362:Shkbp1	UTSW	7	27,051,120 (GRCm39)	critical splice donor site	probably null
R6382:Shkbp1	UTSW	7	27,051,484 (GRCm39)	nonsense	probably null
R6460:Shkbp1	UTSW	7	27,049,963 (GRCm39)	missense	probably benign	0.01
R7025:Shkbp1	UTSW	7	27,054,706 (GRCm39)	missense	possibly damaging	0.47
R7255:Shkbp1	UTSW	7	27,042,173 (GRCm39)	missense	possibly damaging	0.93
R7522:Shkbp1	UTSW	7	27,046,583 (GRCm39)	missense	possibly damaging	0.88
R7571:Shkbp1	UTSW	7	27,046,556 (GRCm39)	missense	possibly damaging	0.90
R8207:Shkbp1	UTSW	7	27,052,109 (GRCm39)	missense	probably benign	0.01
R8770:Shkbp1	UTSW	7	27,051,311 (GRCm39)	missense	possibly damaging	0.65
R8996:Shkbp1	UTSW	7	27,042,844 (GRCm39)	missense	possibly damaging	0.88
R9361:Shkbp1	UTSW	7	27,051,492 (GRCm39)	missense	probably benign	0.00
R9758:Shkbp1	UTSW	7	27,046,442 (GRCm39)	missense	probably benign	0.22
Z1177:Shkbp1	UTSW	7	27,046,426 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTGGCGACACAGATTACACC -3'
(R):5'- TGGTGACACTAGGGACACTG -3'

Sequencing Primer
(F):5'- GATTACACCAAGGAGCCCCTGG -3'
(R):5'- GTGACCTGAGACCCTGAGTTTC -3'

Posted On

2018-06-22