Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Zfp938'

508126

Institutional Source

Beutler Lab

Gene Symbol

Zfp938

Ensembl Gene

ENSMUSG00000062931

Gene Name

zinc finger protein 938

Synonyms

B230315N10Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82224850-82241280 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 82227566 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 52 (S52R)

Ref Sequence

ENSEMBL: ENSMUSP00000047110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041264] [ENSMUST00000156218]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041264
AA Change: S52R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000047110
Gene: ENSMUSG00000062931
AA Change: S52R

Domain	Start	End	E-Value	Type
KRAB	4	64	5.28e-14	SMART
ZnF_C2H2	161	188	2.82e1	SMART
ZnF_C2H2	267	289	1.23e0	SMART
ZnF_C2H2	295	317	2.91e-2	SMART
ZnF_C2H2	323	345	2.4e-3	SMART
ZnF_C2H2	351	373	7.26e-3	SMART
ZnF_C2H2	379	401	4.65e-1	SMART
ZnF_C2H2	407	429	1.47e-3	SMART
ZnF_C2H2	435	457	5.59e-4	SMART
ZnF_C2H2	463	485	1.82e-3	SMART
ZnF_C2H2	491	513	3.63e-3	SMART
ZnF_C2H2	519	541	7.67e-2	SMART
ZnF_C2H2	547	569	2.4e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156218
AA Change: S52R

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000121613
Gene: ENSMUSG00000062931
AA Change: S52R

Domain	Start	End	E-Value	Type
KRAB	4	64	5.28e-14	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Akap1	T	C	11: 88,844,568	T423A	possibly damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	Het

Other mutations in Zfp938

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00659:Zfp938	APN	10	82227521	utr 3 prime	probably benign
IGL00743:Zfp938	APN	10	82226483	missense	probably benign
IGL01764:Zfp938	APN	10	82227790	splice site	probably benign
IGL01814:Zfp938	APN	10	82226218	missense	probably benign
IGL02244:Zfp938	APN	10	82226072	missense	possibly damaging	0.86
IGL02865:Zfp938	APN	10	82226192	missense	probably benign	0.33
R0372:Zfp938	UTSW	10	82227828	missense	probably damaging	1.00
R0666:Zfp938	UTSW	10	82225772	missense	probably damaging	1.00
R0964:Zfp938	UTSW	10	82225419	missense	probably benign	0.00
R1453:Zfp938	UTSW	10	82227798	critical splice donor site	probably null
R1672:Zfp938	UTSW	10	82225148	missense	probably benign
R1929:Zfp938	UTSW	10	82225547	missense	probably damaging	1.00
R1959:Zfp938	UTSW	10	82225631	missense	probably damaging	1.00
R2127:Zfp938	UTSW	10	82226042	missense	probably benign
R2271:Zfp938	UTSW	10	82225547	missense	probably damaging	1.00
R2900:Zfp938	UTSW	10	82225506	missense	possibly damaging	0.92
R4502:Zfp938	UTSW	10	82226271	missense	possibly damaging	0.73
R4503:Zfp938	UTSW	10	82226271	missense	possibly damaging	0.73
R4886:Zfp938	UTSW	10	82226123	missense	probably benign	0.33
R4934:Zfp938	UTSW	10	82226178	missense	possibly damaging	0.86
R5174:Zfp938	UTSW	10	82226004	missense	possibly damaging	0.53
R5410:Zfp938	UTSW	10	82225258	missense	possibly damaging	0.89
R6491:Zfp938	UTSW	10	82227529	makesense	probably null
R6575:Zfp938	UTSW	10	82225326	nonsense	probably null
R6649:Zfp938	UTSW	10	82225398	missense	probably damaging	0.99
X0066:Zfp938	UTSW	10	82226097	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- GAGTTCTAGTCCTGACTTCCTTTGG -3'
(R):5'- AGTGGGCTTTACTGGATCCTT -3'

Sequencing Primer
(F):5'- ACTTCCTTTGGTGATGAACAGC -3'
(R):5'- TCATGCTGGAAACCTACTGG -3'

Posted On

2018-03-15