Mutagenetix > Incidental Mutation

Incidental Mutation 'R9361:Shkbp1'

708694

Institutional Source

Beutler Lab

Gene Symbol

Shkbp1

Ensembl Gene

ENSMUSG00000089832

Gene Name

Sh3kbp1 binding protein 1

Synonyms

SB1, B930062H15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9361 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27041558-27055444 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27051492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 189 (Q189R)

Ref Sequence

ENSEMBL: ENSMUSP00000003857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003857] [ENSMUST00000011895] [ENSMUST00000108362] [ENSMUST00000108363] [ENSMUST00000108364] [ENSMUST00000172269]

AlphaFold

Q6P7W2

Predicted Effect

probably benign
Transcript: ENSMUST00000003857
AA Change: Q189R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: Q189R

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: ENSMUST00000011895

SMART Domains

Protein: ENSMUSP00000011895
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
low complexity region	39	45	N/A	INTRINSIC
CH	64	164	8.03e-24	SMART
CH	183	281	7.38e-23	SMART
Pfam:Spectrin	310	420	1.4e-10	PFAM
SPEC	433	533	5.22e-26	SMART
SPEC	539	642	7.62e-19	SMART
SPEC	648	766	1.31e-8	SMART
SPEC	772	874	2.94e-11	SMART
SPEC	880	980	1.49e-21	SMART
SPEC	986	1081	1.65e0	SMART
SPEC	1087	1192	2.82e-13	SMART
SPEC	1198	1298	6.59e-14	SMART
SPEC	1304	1403	4.08e-19	SMART
SPEC	1409	1508	5.92e-7	SMART
SPEC	1514	1614	2.45e-22	SMART
SPEC	1620	1720	1.45e-24	SMART
SPEC	1726	1827	1.86e-22	SMART
SPEC	1833	1935	9.54e-11	SMART
SPEC	1941	2041	1.35e-19	SMART
SPEC	2047	2297	1.06e-8	SMART
low complexity region	2358	2412	N/A	INTRINSIC
PH	2416	2526	1.54e-14	SMART
low complexity region	2549	2560	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108362

SMART Domains

Protein: ENSMUSP00000103999
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108363

SMART Domains

Protein: ENSMUSP00000104000
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108364

SMART Domains

Protein: ENSMUSP00000104001
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
SPEC	1	83	9.7e-3	SMART
SPEC	89	188	5.92e-7	SMART
SPEC	194	294	2.45e-22	SMART
SPEC	300	400	1.45e-24	SMART
SPEC	406	507	1.86e-22	SMART
SPEC	513	615	9.54e-11	SMART
SPEC	621	721	1.35e-19	SMART
SPEC	727	977	1.06e-8	SMART
low complexity region	1038	1092	N/A	INTRINSIC
PH	1096	1206	1.54e-14	SMART
low complexity region	1229	1240	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126587

Predicted Effect

probably benign
Transcript: ENSMUST00000172269

SMART Domains

Protein: ENSMUSP00000132807
Gene: ENSMUSG00000011751

Domain	Start	End	E-Value	Type
low complexity region	39	45	N/A	INTRINSIC
CH	64	164	8.03e-24	SMART
CH	183	281	7.38e-23	SMART
Pfam:Spectrin	310	420	1.9e-10	PFAM
SPEC	433	533	5.22e-26	SMART
SPEC	539	637	3.45e-17	SMART
SPEC	643	761	1.31e-8	SMART
SPEC	767	869	2.94e-11	SMART
SPEC	875	975	1.49e-21	SMART
SPEC	981	1076	1.65e0	SMART
SPEC	1082	1187	2.82e-13	SMART
SPEC	1193	1293	6.59e-14	SMART
SPEC	1299	1398	4.08e-19	SMART
SPEC	1404	1503	5.92e-7	SMART
SPEC	1509	1609	2.45e-22	SMART
SPEC	1615	1715	1.45e-24	SMART
SPEC	1721	1822	1.86e-22	SMART
SPEC	1828	1930	9.54e-11	SMART
SPEC	1936	2036	1.35e-19	SMART
SPEC	2042	2292	1.06e-8	SMART
low complexity region	2352	2406	N/A	INTRINSIC
PH	2410	2520	1.54e-14	SMART
low complexity region	2543	2554	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190005I06Rik	C	T	8: 121,361,060 (GRCm39)	A12T	unknown	Het
Aasdh	T	A	5: 77,030,225 (GRCm39)	T792S	probably benign	Het
Actl11	T	A	9: 107,805,824 (GRCm39)	L49Q	probably damaging	Het
Adcy3	G	T	12: 4,259,366 (GRCm39)	R881L	possibly damaging	Het
Alox15	T	G	11: 70,241,679 (GRCm39)	K67N	probably damaging	Het
Amotl1	C	T	9: 14,504,677 (GRCm39)	R177Q	probably benign	Het
Ankrd34c	T	A	9: 89,612,183 (GRCm39)	I53F	probably damaging	Het
Atp8b5	T	A	4: 43,369,658 (GRCm39)	F932Y	possibly damaging	Het
Bckdk	A	G	7: 127,506,515 (GRCm39)	M281V	probably benign	Het
Ccdc33	C	T	9: 58,024,908 (GRCm39)	C106Y	possibly damaging	Het
Celsr3	T	A	9: 108,726,521 (GRCm39)	I3250N	probably damaging	Het
Ces1g	A	T	8: 94,061,646 (GRCm39)		probably null	Het
Ces2b	G	A	8: 105,564,039 (GRCm39)		probably null	Het
Clspn	A	T	4: 126,479,654 (GRCm39)	D1033V	probably damaging	Het
Cntln	G	T	4: 84,968,151 (GRCm39)	R790I	probably benign	Het
Cspg4	T	C	9: 56,803,877 (GRCm39)	V1656A	probably damaging	Het
Dennd2b	A	G	7: 109,126,991 (GRCm39)	S907P	probably damaging	Het
Dlgap1	A	T	17: 71,068,259 (GRCm39)	D610V	probably damaging	Het
Efcab3	C	T	11: 104,896,524 (GRCm39)	T4291I	probably benign	Het
Eya4	C	A	10: 22,985,766 (GRCm39)	G579W	probably damaging	Het
Fam83b	T	C	9: 76,400,076 (GRCm39)	I342M	probably benign	Het
Fhdc1	A	C	3: 84,356,140 (GRCm39)	C435G	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Fras1	T	G	5: 96,924,557 (GRCm39)	L3666R	probably damaging	Het
Gm21560	T	A	14: 6,218,262 (GRCm38)	H72L	possibly damaging	Het
Gtsf2	C	T	15: 103,348,066 (GRCm39)	W148*	probably null	Het
Gucy2c	T	C	6: 136,714,429 (GRCm39)	K466E	possibly damaging	Het
Higd2a	T	A	13: 54,738,120 (GRCm39)	D14E	probably benign	Het
Hlcs	C	T	16: 93,939,799 (GRCm39)	V513M	probably benign	Het
Ido1	T	C	8: 25,079,601 (GRCm39)	T148A	probably benign	Het
Ighv1-5	T	A	12: 114,476,985 (GRCm39)	T106S	probably damaging	Het
Igkv4-92	T	C	6: 68,732,090 (GRCm39)	T95A	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Larp4b	T	G	13: 9,199,937 (GRCm39)	F278V	probably damaging	Het
Lrch4	G	A	5: 137,635,076 (GRCm39)	R225H	probably damaging	Het
Mapkbp1	T	C	2: 119,845,252 (GRCm39)	Y378H	probably benign	Het
Nme9	T	A	9: 99,341,775 (GRCm39)	C42S	probably damaging	Het
Or2y10	A	G	11: 49,455,303 (GRCm39)	K185R	probably damaging	Het
Pdlim2	T	G	14: 70,402,190 (GRCm39)	T309P	probably damaging	Het
Pramel39-ps	G	T	5: 94,451,001 (GRCm39)	P375H	probably damaging	Het
Prodh	C	T	16: 17,898,834 (GRCm39)	C207Y	probably benign	Het
Prom1	A	T	5: 44,213,229 (GRCm39)	L168Q	probably damaging	Het
Resf1	T	G	6: 149,228,132 (GRCm39)	S393A	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Skint4	T	C	4: 112,001,021 (GRCm39)	L372S	probably damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Specc1	A	T	11: 62,037,144 (GRCm39)	E699D	probably benign	Het
Speer1m	C	T	5: 11,970,646 (GRCm39)	T105M		Het
Syt6	C	A	3: 103,482,679 (GRCm39)		probably benign	Het
Tent5b	G	T	4: 133,213,461 (GRCm39)	A111S	probably damaging	Het
Tg	A	G	15: 66,557,246 (GRCm39)	E969G	possibly damaging	Het
Tie1	A	C	4: 118,336,829 (GRCm39)	H632Q	probably benign	Het
Trappc12	A	G	12: 28,796,417 (GRCm39)	W372R	probably damaging	Het
Trav7d-4	T	C	14: 53,007,606 (GRCm39)	V33A	probably damaging	Het
Ugdh	A	T	5: 65,575,886 (GRCm39)	N324K	probably damaging	Het
Vmn2r79	G	T	7: 86,652,822 (GRCm39)		probably null	Het
Washc2	T	C	6: 116,239,433 (GRCm39)	*1335Q	probably null	Het
Yme1l1	C	T	2: 23,081,063 (GRCm39)	T445I	possibly damaging	Het
Zdhhc11	T	C	13: 74,122,737 (GRCm39)	C158R	probably damaging	Het
Zfp128	T	C	7: 12,624,364 (GRCm39)	L244P	probably damaging	Het
Zfp445	T	A	9: 122,690,887 (GRCm39)	I103F	probably damaging	Het
Zfp980	A	T	4: 145,427,999 (GRCm39)	T243S	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
R6647:Shkbp1	UTSW	7	27,041,800 (GRCm39)	missense	probably benign
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
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'- AACCTGTGGGATTGAGGGAC -3'
(R):5'- AACAAACTTGGGTTGTCCGG -3'

Sequencing Primer
(F):5'- GATTGAGGGACATCAGTAACCCC -3'
(R):5'- CCAGGACTGCTTTTGTATGCTGAAC -3'

Posted On

2022-04-18