Mutagenetix > Incidental Mutation

Incidental Mutation 'R1823:Zfp780b'

206571

Institutional Source

Beutler Lab

Gene Symbol

Zfp780b

Ensembl Gene

ENSMUSG00000063047

Gene Name

zinc finger protein 780B

Synonyms

B230208L21Rik

MMRRC Submission

039851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1823 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27959135-27979171 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27963100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 677 (C677S)

Ref Sequence

ENSEMBL: ENSMUSP00000146224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081618] [ENSMUST00000205874] [ENSMUST00000206685]

AlphaFold

E9Q2S6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081618
AA Change: C677S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080324
Gene: ENSMUSG00000063047
AA Change: C677S

Domain	Start	End	E-Value	Type
KRAB	14	75	8.48e-36	SMART
ZnF_C2H2	171	193	2.91e-2	SMART
ZnF_C2H2	199	221	3.44e-4	SMART
ZnF_C2H2	227	249	3.11e-2	SMART
ZnF_C2H2	255	277	2.4e-3	SMART
ZnF_C2H2	283	305	2.15e-5	SMART
ZnF_C2H2	311	333	1.18e-2	SMART
ZnF_C2H2	339	361	1.47e-3	SMART
ZnF_C2H2	367	389	1.79e-2	SMART
ZnF_C2H2	395	417	2.24e-3	SMART
ZnF_C2H2	423	445	7.9e-4	SMART
ZnF_C2H2	451	473	8.34e-3	SMART
ZnF_C2H2	479	501	7.9e-4	SMART
ZnF_C2H2	507	529	3.16e-3	SMART
ZnF_C2H2	535	557	1.58e-3	SMART
ZnF_C2H2	563	585	9.08e-4	SMART
ZnF_C2H2	591	613	1.36e-2	SMART
ZnF_C2H2	619	641	1.04e-3	SMART
ZnF_C2H2	647	669	1.2e-3	SMART
ZnF_C2H2	675	697	2.24e-3	SMART
ZnF_C2H2	703	725	1.03e-2	SMART
ZnF_C2H2	731	753	4.17e-3	SMART
ZnF_C2H2	759	781	1.78e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205874

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206685
AA Change: C677S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.9181

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468 (GRCm38)	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312 (GRCm38)	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905 (GRCm38)	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488 (GRCm38)	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727 (GRCm38)	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427 (GRCm38)	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359 (GRCm38)	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886 (GRCm38)	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146 (GRCm38)	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644 (GRCm38)	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852 (GRCm38)		probably null	Het
Camsap2	T	C	1: 136,273,783 (GRCm38)	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271 (GRCm38)	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554 (GRCm38)	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559 (GRCm38)	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347 (GRCm38)		probably benign	Het
Ckap2l	A	G	2: 129,275,579 (GRCm38)	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557 (GRCm38)	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539 (GRCm38)	N557S	probably benign	Het
Dct	T	G	14: 118,036,523 (GRCm38)	N324T	probably benign	Het
Dip2a	A	T	10: 76,278,502 (GRCm38)	L999*	probably null	Het
Dock10	T	A	1: 80,543,097 (GRCm38)		probably null	Het
Dync2li1	A	T	17: 84,649,797 (GRCm38)	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491 (GRCm38)	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978 (GRCm38)	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780 (GRCm38)	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548 (GRCm38)	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091 (GRCm38)	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053 (GRCm38)	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688 (GRCm38)	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769 (GRCm38)	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778 (GRCm38)	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981 (GRCm38)	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732 (GRCm38)	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732 (GRCm38)	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034 (GRCm38)	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780 (GRCm38)	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365 (GRCm38)	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509 (GRCm38)	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097 (GRCm38)		probably benign	Het
Myo3a	A	T	2: 22,340,280 (GRCm38)	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670 (GRCm38)	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245 (GRCm38)	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252 (GRCm38)	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378 (GRCm38)	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192 (GRCm38)	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817 (GRCm38)	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774 (GRCm38)	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332 (GRCm38)	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217 (GRCm38)	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268 (GRCm38)	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872 (GRCm38)		probably benign	Het
Pcdhb9	A	G	18: 37,402,818 (GRCm38)	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176 (GRCm38)		probably benign	Het
Pkhd1	C	A	1: 20,347,457 (GRCm38)	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658 (GRCm38)		probably null	Het
Plekhh2	A	G	17: 84,575,189 (GRCm38)	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329 (GRCm38)	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287 (GRCm38)		probably null	Het
Prcp	A	T	7: 92,928,675 (GRCm38)	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194 (GRCm38)	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044 (GRCm38)		probably benign	Het
Rad9a	A	T	19: 4,197,242 (GRCm38)	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305 (GRCm38)	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910 (GRCm38)		probably benign	Het
Sema6d	A	G	2: 124,659,556 (GRCm38)		probably null	Het
Slc4a2	C	T	5: 24,427,620 (GRCm38)	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176 (GRCm38)		noncoding transcript	Het
Slf2	A	T	19: 44,935,248 (GRCm38)	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671 (GRCm38)	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162 (GRCm38)	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549 (GRCm38)	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955 (GRCm38)	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156 (GRCm38)	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569 (GRCm38)	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234 (GRCm38)	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738 (GRCm38)	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163 (GRCm38)	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967 (GRCm38)	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032 (GRCm38)	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414 (GRCm38)	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595 (GRCm38)	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406 (GRCm38)	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872 (GRCm38)	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218 (GRCm38)	P124T	probably benign	Het

Other mutations in Zfp780b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00782:Zfp780b	APN	7	27,964,761 (GRCm38)	missense	probably benign
IGL03088:Zfp780b	APN	7	27,962,992 (GRCm38)	missense	possibly damaging	0.84
IGL03211:Zfp780b	APN	7	27,963,175 (GRCm38)	missense	possibly damaging	0.93
R0403:Zfp780b	UTSW	7	27,971,689 (GRCm38)	missense	possibly damaging	0.47
R1458:Zfp780b	UTSW	7	27,964,827 (GRCm38)	missense	probably damaging	0.99
R1550:Zfp780b	UTSW	7	27,964,857 (GRCm38)	missense	probably benign
R1694:Zfp780b	UTSW	7	27,964,383 (GRCm38)	missense	possibly damaging	0.86
R2113:Zfp780b	UTSW	7	27,963,873 (GRCm38)	missense	possibly damaging	0.85
R3086:Zfp780b	UTSW	7	27,963,630 (GRCm38)	missense	probably damaging	0.96
R4620:Zfp780b	UTSW	7	27,962,753 (GRCm38)	nonsense	probably null
R5023:Zfp780b	UTSW	7	27,963,448 (GRCm38)	missense	possibly damaging	0.88
R5521:Zfp780b	UTSW	7	27,974,748 (GRCm38)	splice site	probably null
R5582:Zfp780b	UTSW	7	27,964,827 (GRCm38)	missense	probably damaging	0.99
R5677:Zfp780b	UTSW	7	27,962,799 (GRCm38)	missense	probably benign	0.33
R5762:Zfp780b	UTSW	7	27,964,818 (GRCm38)	missense	probably benign
R5998:Zfp780b	UTSW	7	27,964,622 (GRCm38)	missense	probably benign	0.07
R6036:Zfp780b	UTSW	7	27,963,568 (GRCm38)	missense	probably damaging	0.99
R6036:Zfp780b	UTSW	7	27,963,568 (GRCm38)	missense	probably damaging	0.99
R6050:Zfp780b	UTSW	7	27,964,302 (GRCm38)	missense	probably damaging	0.98
R6702:Zfp780b	UTSW	7	27,971,641 (GRCm38)	missense	possibly damaging	0.91
R6703:Zfp780b	UTSW	7	27,971,641 (GRCm38)	missense	possibly damaging	0.91
R7112:Zfp780b	UTSW	7	27,963,141 (GRCm38)	missense	probably damaging	0.98
R7311:Zfp780b	UTSW	7	27,963,163 (GRCm38)	missense	possibly damaging	0.92
R7469:Zfp780b	UTSW	7	27,963,957 (GRCm38)	missense	probably benign	0.02
R7561:Zfp780b	UTSW	7	27,964,612 (GRCm38)	missense	possibly damaging	0.92
R7847:Zfp780b	UTSW	7	27,964,418 (GRCm38)	missense	probably benign	0.00
R8412:Zfp780b	UTSW	7	27,963,126 (GRCm38)	missense	possibly damaging	0.64
R8824:Zfp780b	UTSW	7	27,963,468 (GRCm38)	missense	probably benign	0.45
R9219:Zfp780b	UTSW	7	27,964,381 (GRCm38)	missense	probably benign	0.24
R9248:Zfp780b	UTSW	7	27,973,718 (GRCm38)	critical splice donor site	probably null
R9642:Zfp780b	UTSW	7	27,964,710 (GRCm38)	missense	probably benign	0.37
X0024:Zfp780b	UTSW	7	27,963,250 (GRCm38)	missense	probably damaging	0.99
Z1186:Zfp780b	UTSW	7	27,964,657 (GRCm38)	missense	probably benign
Z1186:Zfp780b	UTSW	7	27,964,543 (GRCm38)	missense	possibly damaging	0.73
Z1186:Zfp780b	UTSW	7	27,963,825 (GRCm38)	missense	probably benign
Z1186:Zfp780b	UTSW	7	27,974,778 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTGACATTCAAATGATTTCTCTCC -3'
(R):5'- TTCAGAACTGCCACACACCTTG -3'

Sequencing Primer
(F):5'- CAAATGATTTCTCTCCAGTGTGG -3'
(R):5'- AACCCTTCAAGTGTAAGCTCTGTGG -3'

Posted On

2014-06-23