Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02174:Zbtb10'

283025

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zbtb10

Ensembl Gene

ENSMUSG00000069114

Gene Name

zinc finger and BTB domain containing 10

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.416) question?

Stock #

IGL02174

Quality Score

Status

Chromosome

Chromosomal Location

9315662-9350393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 9316872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 228 (P228Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119386 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000155203]

AlphaFold

E9Q8X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000155203
AA Change: P228Q

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119386
Gene: ENSMUSG00000069114
AA Change: P228Q

Domain	Start	End	E-Value	Type
low complexity region	15	32	N/A	INTRINSIC
low complexity region	38	54	N/A	INTRINSIC
low complexity region	75	82	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	121	137	N/A	INTRINSIC
low complexity region	180	222	N/A	INTRINSIC
ZnF_TTF	239	321	7.92e-2	SMART
BTB	357	456	4.02e-20	SMART
internal_repeat_1	648	671	2.82e-12	PROSPERO
internal_repeat_1	672	695	2.82e-12	PROSPERO
ZnF_C2H2	714	736	6.78e-3	SMART
ZnF_C2H2	742	764	2.09e-3	SMART
low complexity region	765	777	N/A	INTRINSIC
low complexity region	823	842	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,738,154 (GRCm39)	I1199V	probably damaging	Het
Adgrv1	G	A	13: 81,575,783 (GRCm39)	T4861I	probably benign	Het
Ampd2	T	C	3: 107,987,601 (GRCm39)	D108G	probably damaging	Het
Azin1	A	G	15: 38,493,730 (GRCm39)	F298L	probably benign	Het
Bag1	T	A	4: 40,941,555 (GRCm39)	E123D	possibly damaging	Het
Cabs1	A	G	5: 88,128,339 (GRCm39)	E330G	probably benign	Het
Ccdc33	T	C	9: 57,940,938 (GRCm39)	K435E	probably benign	Het
Clip2	T	G	5: 134,523,118 (GRCm39)	K943T	probably damaging	Het
Cmya5	T	C	13: 93,185,415 (GRCm39)	I3527V	possibly damaging	Het
Cyp2w1	C	T	5: 139,341,384 (GRCm39)	R244C	probably benign	Het
Dcaf13	C	A	15: 39,001,544 (GRCm39)	A284E	probably damaging	Het
Ddx31	T	A	2: 28,749,041 (GRCm39)	L279Q	probably damaging	Het
Dgki	A	G	6: 37,009,856 (GRCm39)	L497P	probably damaging	Het
Dnah12	A	T	14: 26,428,072 (GRCm39)	I233F	probably benign	Het
Dpp6	G	T	5: 27,926,085 (GRCm39)	G720*	probably null	Het
Emc1	T	C	4: 139,098,979 (GRCm39)	Y821H	possibly damaging	Het
Esr1	C	T	10: 4,948,003 (GRCm39)	R519W	probably damaging	Het
Gamt	A	T	10: 80,094,230 (GRCm39)	V227E	possibly damaging	Het
Habp2	A	G	19: 56,300,169 (GRCm39)	Q206R	probably damaging	Het
Ihh	A	G	1: 74,990,105 (GRCm39)	I90T	probably damaging	Het
Kif20b	T	C	19: 34,911,858 (GRCm39)		probably benign	Het
Lcp2	T	C	11: 34,000,966 (GRCm39)		probably benign	Het
Lyrm2	A	G	4: 32,800,649 (GRCm39)	I29V	probably benign	Het
Macf1	T	C	4: 123,385,587 (GRCm39)	D1168G	probably damaging	Het
Mocos	T	C	18: 24,828,953 (GRCm39)	S753P	probably benign	Het
Myo3a	A	G	2: 22,337,204 (GRCm39)	E367G	probably benign	Het
Ndor1	G	A	2: 25,139,206 (GRCm39)	A255V	possibly damaging	Het
Nfat5	C	T	8: 108,065,683 (GRCm39)	P148S	probably damaging	Het
Or4c121	A	T	2: 89,023,712 (GRCm39)	F222Y	probably benign	Het
Or5al7	T	A	2: 85,992,442 (GRCm39)	M284L	possibly damaging	Het
Or6z7	T	C	7: 6,483,438 (GRCm39)	Y239C	probably benign	Het
Or8b41	A	T	9: 38,055,081 (GRCm39)	T217S	possibly damaging	Het
Pappa2	C	T	1: 158,589,188 (GRCm39)	C1679Y	probably damaging	Het
Pcdhb2	T	A	18: 37,429,551 (GRCm39)	I508N	probably damaging	Het
Pkd2l1	G	A	19: 44,145,707 (GRCm39)	T172I	probably benign	Het
Pld5	A	G	1: 176,102,310 (GRCm39)	V44A	possibly damaging	Het
Prss44	T	C	9: 110,646,199 (GRCm39)	W309R	probably damaging	Het
Rc3h2	A	T	2: 37,301,237 (GRCm39)	N88K	probably benign	Het
Rspry1	A	G	8: 95,359,768 (GRCm39)	I102M	possibly damaging	Het
Stab2	A	G	10: 86,695,606 (GRCm39)		probably null	Het
Tbx3	C	A	5: 119,813,649 (GRCm39)	Y228*	probably null	Het
Tcf15	G	T	2: 151,986,065 (GRCm39)		probably benign	Het
Tmem41b	A	G	7: 109,578,003 (GRCm39)	S94P	possibly damaging	Het
Trmt10b	A	T	4: 45,308,508 (GRCm39)	I223F	possibly damaging	Het
Tyrp1	G	T	4: 80,763,063 (GRCm39)	G317*	probably null	Het
Urod	T	A	4: 116,847,479 (GRCm39)		probably benign	Het
Vwf	G	T	6: 125,532,358 (GRCm39)	R52L	probably damaging	Het
Wnk2	C	A	13: 49,210,643 (GRCm39)	Q232H	probably damaging	Het
Zfp764l1	G	A	7: 126,991,525 (GRCm39)	T154I	possibly damaging	Het

Other mutations in Zbtb10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02207:Zbtb10	APN	3	9,345,525 (GRCm39)	critical splice donor site	probably null
IGL02499:Zbtb10	APN	3	9,316,800 (GRCm39)	missense	probably damaging	1.00
IGL02506:Zbtb10	APN	3	9,330,297 (GRCm39)	missense	probably damaging	0.99
IGL03294:Zbtb10	APN	3	9,346,047 (GRCm39)	missense	probably benign	0.18
R0510:Zbtb10	UTSW	3	9,329,728 (GRCm39)	missense	probably damaging	1.00
R1859:Zbtb10	UTSW	3	9,345,446 (GRCm39)	missense	possibly damaging	0.47
R2342:Zbtb10	UTSW	3	9,330,255 (GRCm39)	missense	possibly damaging	0.60
R3407:Zbtb10	UTSW	3	9,329,926 (GRCm39)	missense	probably damaging	1.00
R4161:Zbtb10	UTSW	3	9,345,356 (GRCm39)	missense	probably damaging	1.00
R4301:Zbtb10	UTSW	3	9,330,220 (GRCm39)	missense	probably damaging	0.96
R4698:Zbtb10	UTSW	3	9,329,610 (GRCm39)	missense	possibly damaging	0.87
R5184:Zbtb10	UTSW	3	9,329,731 (GRCm39)	missense	probably damaging	0.99
R5443:Zbtb10	UTSW	3	9,345,108 (GRCm39)	missense	probably benign
R5665:Zbtb10	UTSW	3	9,330,252 (GRCm39)	missense	probably damaging	0.99
R5744:Zbtb10	UTSW	3	9,329,623 (GRCm39)	missense	probably damaging	1.00
R5862:Zbtb10	UTSW	3	9,330,276 (GRCm39)	missense	probably damaging	0.98
R5909:Zbtb10	UTSW	3	9,345,109 (GRCm39)	missense	probably benign	0.14
R6547:Zbtb10	UTSW	3	9,316,763 (GRCm39)	missense	probably benign	0.38
R6612:Zbtb10	UTSW	3	9,317,125 (GRCm39)	missense	possibly damaging	0.87
R7457:Zbtb10	UTSW	3	9,316,538 (GRCm39)	missense	possibly damaging	0.77
R8985:Zbtb10	UTSW	3	9,345,807 (GRCm39)	missense	probably damaging	1.00
R9191:Zbtb10	UTSW	3	9,330,295 (GRCm39)	missense	probably damaging	0.98
R9472:Zbtb10	UTSW	3	9,343,355 (GRCm39)	missense	probably benign	0.25
R9616:Zbtb10	UTSW	3	9,316,473 (GRCm39)	missense	probably benign	0.01
Z1177:Zbtb10	UTSW	3	9,343,391 (GRCm39)	missense	probably benign

Posted On

2015-04-16