Mutagenetix > Incidental Mutation

Incidental Mutation 'R6536:Zfp775'

520409

Institutional Source

Beutler Lab

Gene Symbol

Zfp775

Ensembl Gene

ENSMUSG00000007216

Gene Name

zinc finger protein 775

Synonyms

C130032F08Rik

MMRRC Submission

044662-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R6536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48578937-48598482 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48596543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 139 (K139R)

Ref Sequence

ENSEMBL: ENSMUSP00000145192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061720] [ENSMUST00000204042] [ENSMUST00000204095] [ENSMUST00000204121]

AlphaFold

Q8BI73

Predicted Effect

probably damaging
Transcript: ENSMUST00000061720
AA Change: K139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000056290
Gene: ENSMUSG00000007216
AA Change: K139R

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
ZnF_C2H2	104	126	7.9e-4	SMART
ZnF_C2H2	132	154	1.69e-3	SMART
ZnF_C2H2	160	182	2.36e-2	SMART
ZnF_C2H2	188	210	4.11e-2	SMART
ZnF_C2H2	279	301	1.84e-4	SMART
ZnF_C2H2	307	329	4.94e-5	SMART
ZnF_C2H2	335	357	2.95e-3	SMART
ZnF_C2H2	364	386	1.36e-2	SMART
ZnF_C2H2	446	468	1.3e-4	SMART
ZnF_C2H2	474	496	2.12e-4	SMART
ZnF_C2H2	502	524	5.5e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203998

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204042
AA Change: K139R

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000145369
Gene: ENSMUSG00000007216
AA Change: K139R

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
ZnF_C2H2	104	126	3.3e-6	SMART
ZnF_C2H2	132	154	7.3e-6	SMART
ZnF_C2H2	160	182	9.9e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000204095
AA Change: K139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000145192
Gene: ENSMUSG00000007216
AA Change: K139R

Domain	Start	End	E-Value	Type
low complexity region	86	102	N/A	INTRINSIC
ZnF_C2H2	104	126	7.9e-4	SMART
ZnF_C2H2	132	154	1.69e-3	SMART
ZnF_C2H2	160	182	2.36e-2	SMART
ZnF_C2H2	188	210	4.11e-2	SMART
ZnF_C2H2	279	301	1.84e-4	SMART
ZnF_C2H2	307	329	4.94e-5	SMART
ZnF_C2H2	335	357	2.95e-3	SMART
ZnF_C2H2	364	386	1.36e-2	SMART
ZnF_C2H2	446	468	1.3e-4	SMART
ZnF_C2H2	474	496	2.12e-4	SMART
ZnF_C2H2	502	524	5.5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204121

Meta Mutation Damage Score

0.1399

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	G	T	11: 48,910,550 (GRCm39)	H628N	probably benign	Het
Abcb1a	T	A	5: 8,769,030 (GRCm39)	F751I	probably benign	Het
Adamts13	G	A	2: 26,865,762 (GRCm39)	V106M	probably damaging	Het
Add1	C	A	5: 34,758,780 (GRCm39)	N31K	possibly damaging	Het
Adgrf5	G	T	17: 43,733,552 (GRCm39)		probably benign	Het
Akap11	T	G	14: 78,748,754 (GRCm39)	D1211A	possibly damaging	Het
Atp5f1c	G	A	2: 10,085,127 (GRCm39)		probably benign	Het
Cd320	T	C	17: 34,066,477 (GRCm39)	S72P	probably benign	Het
Clca4b	C	A	3: 144,622,490 (GRCm39)	W525L	possibly damaging	Het
Cripto	A	T	9: 110,773,257 (GRCm39)		probably null	Het
Csmd3	G	A	15: 47,701,863 (GRCm39)	T1740I	probably damaging	Het
Dnah7c	T	G	1: 46,697,450 (GRCm39)	S2122A	probably benign	Het
Enpp2	T	C	15: 54,726,027 (GRCm39)	N583S	probably damaging	Het
Fcsk	A	G	8: 111,610,511 (GRCm39)	V964A	possibly damaging	Het
Gpd2	A	T	2: 57,235,367 (GRCm39)	I366F	probably benign	Het
Hsd17b2	G	A	8: 118,428,921 (GRCm39)	V63M	possibly damaging	Het
Hsdl2	A	T	4: 59,610,508 (GRCm39)		probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,121,593 (GRCm39)		probably null	Het
Ifi44	A	G	3: 151,438,126 (GRCm39)	V387A	probably benign	Het
Kcnc4	T	C	3: 107,355,512 (GRCm39)	D312G	possibly damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Klra6	C	T	6: 130,000,682 (GRCm39)	V41I	probably benign	Het
Lrp1	A	G	10: 127,393,937 (GRCm39)		probably null	Het
Mpdz	T	C	4: 81,301,654 (GRCm39)	E257G	probably damaging	Het
Or10v1	T	C	19: 11,873,760 (GRCm39)	V125A	probably benign	Het
Or4f14	T	C	2: 111,743,119 (GRCm39)	D52G	possibly damaging	Het
Papln	A	G	12: 83,828,661 (GRCm39)	Y789C	probably damaging	Het
Pcdh15	T	C	10: 74,467,221 (GRCm39)	L1680P	probably damaging	Het
Pcdhac1	A	G	18: 37,223,367 (GRCm39)	N60S	probably benign	Het
Polr3g	T	C	13: 81,826,335 (GRCm39)	N162S	unknown	Het
Pou3f3	A	G	1: 42,737,374 (GRCm39)	I357V	probably damaging	Het
Sycp2	A	G	2: 177,993,441 (GRCm39)	S1235P	probably damaging	Het
Tns3	A	T	11: 8,384,531 (GRCm39)	V1429E	probably damaging	Het
Trim67	T	C	8: 125,521,081 (GRCm39)	S148P	possibly damaging	Het
Usp49	A	T	17: 47,990,617 (GRCm39)	I348F	probably damaging	Het
Wac	A	T	18: 7,905,189 (GRCm39)		probably null	Het

Other mutations in Zfp775

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0051:Zfp775	UTSW	6	48,597,706 (GRCm39)	missense	probably benign
R1694:Zfp775	UTSW	6	48,596,389 (GRCm39)	missense	possibly damaging	0.53
R4178:Zfp775	UTSW	6	48,590,187 (GRCm39)	splice site	probably null
R5992:Zfp775	UTSW	6	48,596,750 (GRCm39)	missense	probably damaging	1.00
R6924:Zfp775	UTSW	6	48,596,589 (GRCm39)	missense	probably damaging	1.00
R7200:Zfp775	UTSW	6	48,597,415 (GRCm39)	missense	possibly damaging	0.47
R7784:Zfp775	UTSW	6	48,596,183 (GRCm39)	missense	possibly damaging	0.94
R7872:Zfp775	UTSW	6	48,597,404 (GRCm39)	missense	probably benign
R8406:Zfp775	UTSW	6	48,597,637 (GRCm39)	missense	probably damaging	1.00
R8766:Zfp775	UTSW	6	48,597,113 (GRCm39)	missense	probably damaging	1.00
R8771:Zfp775	UTSW	6	48,596,906 (GRCm39)	missense	probably benign	0.34
R9068:Zfp775	UTSW	6	48,597,151 (GRCm39)	missense	probably damaging	1.00
Z1088:Zfp775	UTSW	6	48,597,622 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp775	UTSW	6	48,597,245 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGCAGAGTGGTCTC -3'
(R):5'- GCGCTCACATTCTGGACATG -3'

Sequencing Primer
(F):5'- TAGGGCTCTGGGGTCACAAG -3'
(R):5'- CTCACATTCTGGACATGTGTGAG -3'

Posted On

2018-06-06