Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Zfp786'

236869

Institutional Source

Beutler Lab

Gene Symbol

Zfp786

Ensembl Gene

ENSMUSG00000051499

Gene Name

zinc finger protein 786

Synonyms

A730012O14Rik

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2176 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47796200-47807801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47797905 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 344 (H344Q)

Ref Sequence

ENSEMBL: ENSMUSP00000057495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058844]

AlphaFold

Q8BV42

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058844
AA Change: H344Q

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000057495
Gene: ENSMUSG00000051499
AA Change: H344Q

Domain	Start	End	E-Value	Type
KRAB	9	69	2.6e-22	SMART
low complexity region	156	164	N/A	INTRINSIC
ZnF_C2H2	240	262	5.34e-1	SMART
ZnF_C2H2	268	295	1.41e2	SMART
ZnF_C2H2	420	440	1.21e2	SMART
ZnF_C2H2	448	470	3.52e-1	SMART
ZnF_C2H2	476	498	1.89e-1	SMART
ZnF_C2H2	504	526	1.69e-3	SMART
ZnF_C2H2	532	554	5.59e-4	SMART
ZnF_C2H2	560	582	4.79e-3	SMART
ZnF_C2H2	588	610	3.69e-4	SMART
ZnF_C2H2	616	638	3.63e-3	SMART
ZnF_C2H2	644	665	5.92e0	SMART
ZnF_C2H2	671	693	2.57e-3	SMART
ZnF_C2H2	699	721	1.38e-3	SMART
ZnF_C2H2	727	749	1.45e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143979

Meta Mutation Damage Score

0.1148

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	A	5: 121,657,649 (GRCm39)	Y548F	probably benign	Het
Armc9	T	C	1: 86,127,614 (GRCm39)	L83P	probably damaging	Het
BC051665	A	T	13: 60,932,344 (GRCm39)		probably benign	Het
Casp3	A	G	8: 47,082,791 (GRCm39)	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,865,070 (GRCm39)	M109I	probably benign	Het
Ccr6	T	A	17: 8,475,073 (GRCm39)	F93I	probably damaging	Het
Clvs2	T	C	10: 33,471,811 (GRCm39)	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,320,941 (GRCm39)	V171A	probably benign	Het
Dennd5a	C	A	7: 109,504,327 (GRCm39)		probably null	Het
Dock2	T	A	11: 34,586,044 (GRCm39)	Y546F	probably benign	Het
Fat2	A	G	11: 55,158,401 (GRCm39)		probably null	Het
Focad	T	A	4: 88,197,481 (GRCm39)	Y625N	unknown	Het
Fyb1	A	G	15: 6,609,435 (GRCm39)	K3E	probably damaging	Het
Gm14496	G	A	2: 181,633,130 (GRCm39)	D38N	probably benign	Het
Gm20403	T	C	12: 55,033,155 (GRCm39)	T54A	probably benign	Het
Gm9830	A	G	9: 44,375,556 (GRCm39)		noncoding transcript	Het
Hectd1	A	T	12: 51,792,277 (GRCm39)	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,715,233 (GRCm39)	L175S	probably benign	Het
Inhca	A	G	9: 103,136,566 (GRCm39)		probably benign	Het
Itgav	C	T	2: 83,633,599 (GRCm39)	R983C	probably damaging	Het
Kcna10	T	C	3: 107,102,032 (GRCm39)	V221A	probably damaging	Het
Kif13b	G	A	14: 64,907,120 (GRCm39)	V35I	probably benign	Het
Kif6	G	A	17: 50,062,258 (GRCm39)	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,426,042 (GRCm39)	T452A	probably benign	Het
Mllt1	A	G	17: 57,204,398 (GRCm39)	S382P	probably benign	Het
Myo15b	T	C	11: 115,757,398 (GRCm39)	W1083R	probably damaging	Het
Nell2	T	C	15: 95,333,038 (GRCm39)	I174V	probably damaging	Het
Noct	G	A	3: 51,157,117 (GRCm39)		probably null	Het
Nvl	A	T	1: 180,962,639 (GRCm39)		probably benign	Het
Ofcc1	T	C	13: 40,250,595 (GRCm39)	S574G	probably benign	Het
Or10a3m	G	A	7: 108,313,339 (GRCm39)	V248I	probably damaging	Het
Or11h4	T	C	14: 50,973,681 (GRCm39)	M313V	probably benign	Het
Or4a75	A	T	2: 89,447,924 (GRCm39)	M204K	possibly damaging	Het
Pip5k1a	A	T	3: 94,972,807 (GRCm39)	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,623,741 (GRCm39)	P785S	probably damaging	Het
Plcg2	A	G	8: 118,339,733 (GRCm39)	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,570,720 (GRCm39)	V337E	probably benign	Het
Prkg2	T	C	5: 99,114,368 (GRCm39)		probably benign	Het
Prl7a2	T	G	13: 27,843,089 (GRCm39)	Y238S	probably benign	Het
Psg28	T	A	7: 18,161,804 (GRCm39)	D233V	probably damaging	Het
Rad50	A	G	11: 53,589,036 (GRCm39)	C221R	probably benign	Het
Rgl3	A	G	9: 21,887,254 (GRCm39)		probably benign	Het
Rgsl1	T	A	1: 153,701,014 (GRCm39)		probably benign	Het
Ror1	C	A	4: 100,299,071 (GRCm39)	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,275,534 (GRCm39)	D360E	probably benign	Het
Ryr3	T	C	2: 112,496,680 (GRCm39)	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 118,389,616 (GRCm39)	F342I	possibly damaging	Het
Setd5	A	G	6: 113,128,114 (GRCm39)	R1337G	probably benign	Het
Siglecf	T	C	7: 43,001,140 (GRCm39)	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,239,542 (GRCm39)	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,063,587 (GRCm39)	M2280L	probably benign	Het
Syngr2	T	C	11: 117,703,406 (GRCm39)	I74T	probably damaging	Het
Tm9sf1	T	C	14: 55,878,866 (GRCm39)	I175M	possibly damaging	Het
Tmc3	A	G	7: 83,258,516 (GRCm39)	E502G	probably damaging	Het
Tph1	T	A	7: 46,311,463 (GRCm39)	D88V	possibly damaging	Het
Tpr	A	G	1: 150,295,691 (GRCm39)	K979E	possibly damaging	Het
Usp47	A	G	7: 111,691,934 (GRCm39)	T799A	probably benign	Het
Utf1	A	G	7: 139,523,920 (GRCm39)	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,956,772 (GRCm39)	C242S	probably damaging	Het
Wrnip1	T	C	13: 33,004,223 (GRCm39)	I498T	probably damaging	Het
Ypel2	T	A	11: 86,862,699 (GRCm39)	H18L	probably benign	Het
Zan	T	G	5: 137,420,110 (GRCm39)	D2849A	unknown	Het
Zfp647	A	T	15: 76,795,860 (GRCm39)	F267I	probably damaging	Het
Zswim3	G	T	2: 164,662,614 (GRCm39)	A365S	probably benign	Het
Zswim5	T	C	4: 116,830,238 (GRCm39)	W538R	probably damaging	Het

Other mutations in Zfp786

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00593:Zfp786	APN	6	47,796,605 (GRCm39)	makesense	probably null
IGL02442:Zfp786	APN	6	47,798,301 (GRCm39)	missense	probably benign	0.00
IGL02674:Zfp786	APN	6	47,797,427 (GRCm39)	missense	probably benign	0.22
IGL02814:Zfp786	APN	6	47,796,775 (GRCm39)	missense	probably damaging	1.00
IGL03072:Zfp786	APN	6	47,798,177 (GRCm39)	missense	probably benign	0.01
IGL03294:Zfp786	APN	6	47,798,258 (GRCm39)	nonsense	probably null
IGL03393:Zfp786	APN	6	47,798,458 (GRCm39)	missense	possibly damaging	0.88
3-1:Zfp786	UTSW	6	47,797,379 (GRCm39)	missense	probably damaging	1.00
PIT4581001:Zfp786	UTSW	6	47,796,756 (GRCm39)	missense	probably damaging	1.00
R1071:Zfp786	UTSW	6	47,798,239 (GRCm39)	missense	possibly damaging	0.91
R1426:Zfp786	UTSW	6	47,802,013 (GRCm39)	missense	probably benign	0.17
R1976:Zfp786	UTSW	6	47,796,691 (GRCm39)	missense	probably damaging	1.00
R2114:Zfp786	UTSW	6	47,803,931 (GRCm39)	missense	probably damaging	1.00
R2115:Zfp786	UTSW	6	47,803,931 (GRCm39)	missense	probably damaging	1.00
R2117:Zfp786	UTSW	6	47,803,931 (GRCm39)	missense	probably damaging	1.00
R2304:Zfp786	UTSW	6	47,797,633 (GRCm39)	missense	probably damaging	1.00
R3110:Zfp786	UTSW	6	47,797,160 (GRCm39)	missense	probably damaging	1.00
R3112:Zfp786	UTSW	6	47,797,160 (GRCm39)	missense	probably damaging	1.00
R3623:Zfp786	UTSW	6	47,798,357 (GRCm39)	missense	probably benign	0.00
R4654:Zfp786	UTSW	6	47,797,868 (GRCm39)	missense	probably benign	0.01
R4741:Zfp786	UTSW	6	47,797,625 (GRCm39)	missense	probably damaging	1.00
R4927:Zfp786	UTSW	6	47,797,087 (GRCm39)	missense	probably benign	0.43
R4936:Zfp786	UTSW	6	47,798,202 (GRCm39)	nonsense	probably null
R5084:Zfp786	UTSW	6	47,796,953 (GRCm39)	missense	probably benign	0.00
R5445:Zfp786	UTSW	6	47,796,619 (GRCm39)	missense	probably damaging	1.00
R6662:Zfp786	UTSW	6	47,803,920 (GRCm39)	missense	probably damaging	1.00
R7290:Zfp786	UTSW	6	47,796,929 (GRCm39)	missense	probably damaging	1.00
R7561:Zfp786	UTSW	6	47,796,667 (GRCm39)	missense	probably benign	0.02
R8038:Zfp786	UTSW	6	47,798,188 (GRCm39)	missense	probably benign	0.01
R8090:Zfp786	UTSW	6	47,796,943 (GRCm39)	missense	probably damaging	1.00
R8250:Zfp786	UTSW	6	47,797,729 (GRCm39)	missense	possibly damaging	0.85
R8438:Zfp786	UTSW	6	47,796,934 (GRCm39)	missense	probably damaging	1.00
R8516:Zfp786	UTSW	6	47,797,477 (GRCm39)	missense	probably damaging	1.00
R8868:Zfp786	UTSW	6	47,802,015 (GRCm39)	missense	probably damaging	0.99
R9596:Zfp786	UTSW	6	47,797,406 (GRCm39)	nonsense	probably null
R9788:Zfp786	UTSW	6	47,797,816 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TGGTGGACATTCTGTAGGCC -3'
(R):5'- ATCATGAACGTACCCTTTTCAGC -3'

Sequencing Primer
(F):5'- GACATTCTGTAGGCCTCTCAGG -3'
(R):5'- TTTTCAGCCACCACCTGAAG -3'

Posted On

2014-10-02