Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Zfp740'

350712

Institutional Source

Beutler Lab

Gene Symbol

Zfp740

Ensembl Gene

ENSMUSG00000046897

Gene Name

zinc finger protein 740

Synonyms

1110034O07Rik

MMRRC Submission

040944-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102112080-102124045 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 102116678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 56 (C56F)

Ref Sequence

ENSEMBL: ENSMUSP00000122698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118729] [ENSMUST00000119168] [ENSMUST00000119800] [ENSMUST00000121206] [ENSMUST00000133986] [ENSMUST00000139960] [ENSMUST00000141465] [ENSMUST00000229252] [ENSMUST00000229886] [ENSMUST00000229043] [ENSMUST00000230656] [ENSMUST00000229770] [ENSMUST00000229514] [ENSMUST00000229345] [ENSMUST00000230687] [ENSMUST00000231030] [ENSMUST00000230867]

AlphaFold

Q6NZQ6

Predicted Effect

probably benign
Transcript: ENSMUST00000118729

SMART Domains

Protein: ENSMUSP00000112985
Gene: ENSMUSG00000046897

Domain	Start	End	E-Value	Type
low complexity region	53	62	N/A	INTRINSIC
ZnF_C2H2	76	98	3.07e-1	SMART
ZnF_C2H2	104	126	1.69e-3	SMART
ZnF_C2H2	132	152	4.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119168
AA Change: C31F

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000119800
AA Change: C31F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113770
Gene: ENSMUSG00000046897
AA Change: C31F

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC
ZnF_C2H2	88	110	3.07e-1	SMART
ZnF_C2H2	116	138	1.69e-3	SMART
ZnF_C2H2	144	164	4.99e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119830

SMART Domains

Protein: ENSMUSP00000113281
Gene: ENSMUSG00000046897

Domain	Start	End	E-Value	Type
ZnF_C2H2	25	47	3.07e-1	SMART
ZnF_C2H2	53	75	1.69e-3	SMART
ZnF_C2H2	81	101	4.99e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123528

Predicted Effect

probably benign
Transcript: ENSMUST00000133986
AA Change: C31F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122429
Gene: ENSMUSG00000046897
AA Change: C31F

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139960
AA Change: C31F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117024
Gene: ENSMUSG00000046897
AA Change: C31F

Domain	Start	End	E-Value	Type
low complexity region	65	74	N/A	INTRINSIC
Blast:ZnF_C2H2	88	107	9e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000141465
AA Change: C56F

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000229252

Predicted Effect

probably benign
Transcript: ENSMUST00000229886

Predicted Effect

probably benign
Transcript: ENSMUST00000229043

Predicted Effect

probably benign
Transcript: ENSMUST00000230656

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230600

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230328

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230665

Predicted Effect

probably benign
Transcript: ENSMUST00000229770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230644

Predicted Effect

probably benign
Transcript: ENSMUST00000229514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230008

Predicted Effect

probably benign
Transcript: ENSMUST00000229345

Predicted Effect

probably benign
Transcript: ENSMUST00000230687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230895

Predicted Effect

probably benign
Transcript: ENSMUST00000231030

Predicted Effect

probably benign
Transcript: ENSMUST00000230867

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,467,220 (GRCm39)	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,547,180 (GRCm39)		probably null	Het
Abcc6	T	C	7: 45,644,713 (GRCm39)	I821V	probably benign	Het
Adam34	G	A	8: 44,103,806 (GRCm39)	T613I	probably benign	Het
Ap2b1	C	T	11: 83,281,542 (GRCm39)	T816M	probably damaging	Het
Cct2	G	A	10: 116,890,040 (GRCm39)	P10L	probably damaging	Het
Cdc23	C	A	18: 34,770,539 (GRCm39)		probably benign	Het
Chrna2	G	T	14: 66,386,906 (GRCm39)	V351L	probably benign	Het
Clca3a1	T	A	3: 144,461,070 (GRCm39)	T194S	probably benign	Het
Col18a1	C	A	10: 76,924,721 (GRCm39)	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,101,962 (GRCm39)	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,034,699 (GRCm39)	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 24,119,547 (GRCm39)	Y120*	probably null	Het
Ddx11	C	T	17: 66,441,125 (GRCm39)	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,272,871 (GRCm39)	V2333E	possibly damaging	Het
Duxf4	T	A	10: 58,071,623 (GRCm39)	N197I	possibly damaging	Het
Eno3	T	A	11: 70,552,237 (GRCm39)	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,940 (GRCm39)	V492M	probably damaging	Het
Gdap1	T	G	1: 17,230,131 (GRCm39)		probably benign	Het
Gm1587	C	T	14: 78,032,283 (GRCm39)	E118K	unknown	Het
Gprin3	T	C	6: 59,331,545 (GRCm39)	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,652,679 (GRCm39)	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,167,657 (GRCm39)	Y175N	probably benign	Het
Hydin	G	A	8: 111,118,957 (GRCm39)	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,485,823 (GRCm39)	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,636 (GRCm39)	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,559,042 (GRCm39)	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,743,927 (GRCm39)		probably benign	Het
Map3k20	C	T	2: 72,268,571 (GRCm39)	T526I	probably damaging	Het
Mfap2	A	G	4: 140,741,554 (GRCm39)	Q71R	possibly damaging	Het
Mme	T	A	3: 63,235,485 (GRCm39)	Y178N	probably damaging	Het
Msr1	A	G	8: 40,073,059 (GRCm39)	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,337,996 (GRCm39)	V646A	probably damaging	Het
Mybpc3	A	T	2: 90,965,714 (GRCm39)	K1175N	probably benign	Het
Myo1c	T	A	11: 75,552,325 (GRCm39)	L366Q	probably benign	Het
Or12d15	T	C	17: 37,694,289 (GRCm39)	V277A	possibly damaging	Het
Or1e22	A	G	11: 73,376,961 (GRCm39)	S230P	possibly damaging	Het
Or6f1	A	G	7: 85,970,942 (GRCm39)	Y73H	probably damaging	Het
Palmd	T	C	3: 116,717,472 (GRCm39)	T342A	probably benign	Het
Pde4d	A	G	13: 109,876,940 (GRCm39)	T29A	probably benign	Het
Rapgef5	A	G	12: 117,692,405 (GRCm39)	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,686,017 (GRCm39)	N43S	probably benign	Het
Rnf44	A	C	13: 54,830,961 (GRCm39)	S98R	probably damaging	Het
Samhd1	C	A	2: 156,965,369 (GRCm39)	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,238,644 (GRCm39)	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,073,591 (GRCm39)	N813S	probably benign	Het
Sirt3	A	T	7: 140,458,025 (GRCm39)	C41*	probably null	Het
Speg	C	A	1: 75,399,191 (GRCm39)	P2213T	probably benign	Het
Srcin1	T	G	11: 97,416,379 (GRCm39)	E951A	probably damaging	Het
Syn2	C	G	6: 115,214,259 (GRCm39)	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,744,649 (GRCm39)	T326A	probably benign	Het
Tcstv2a	G	T	13: 120,725,815 (GRCm39)	A160S	possibly damaging	Het
Tes	T	A	6: 17,099,700 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,668,889 (GRCm39)	V1137A	probably benign	Het
Tln1	T	C	4: 43,553,030 (GRCm39)	T354A	probably damaging	Het
Ttn	G	T	2: 76,632,705 (GRCm39)	S12370R	possibly damaging	Het
Twsg1	T	C	17: 66,236,758 (GRCm39)	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,684,234 (GRCm39)	T233I	probably benign	Het
Wee2	A	T	6: 40,432,175 (GRCm39)	N248I	possibly damaging	Het

Other mutations in Zfp740

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02165:Zfp740	APN	15	102,121,109 (GRCm39)	missense	possibly damaging	0.66
R0432:Zfp740	UTSW	15	102,121,094 (GRCm39)	missense	possibly damaging	0.66
R0659:Zfp740	UTSW	15	102,121,094 (GRCm39)	missense	possibly damaging	0.66
R0661:Zfp740	UTSW	15	102,121,094 (GRCm39)	missense	possibly damaging	0.66
R1666:Zfp740	UTSW	15	102,116,753 (GRCm39)	missense	probably damaging	1.00
R1830:Zfp740	UTSW	15	102,116,336 (GRCm39)	missense	probably damaging	1.00
R4686:Zfp740	UTSW	15	102,117,184 (GRCm39)	unclassified	probably benign
R4991:Zfp740	UTSW	15	102,116,714 (GRCm39)	splice site	probably null
R5170:Zfp740	UTSW	15	102,117,640 (GRCm39)	missense	probably damaging	1.00
R5213:Zfp740	UTSW	15	102,121,082 (GRCm39)	missense	possibly damaging	0.68
R5782:Zfp740	UTSW	15	102,116,801 (GRCm39)	unclassified	probably benign
R6088:Zfp740	UTSW	15	102,117,243 (GRCm39)	missense	probably damaging	1.00
R6848:Zfp740	UTSW	15	102,117,243 (GRCm39)	missense	probably benign	0.24
R8526:Zfp740	UTSW	15	102,116,726 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGTACGGGTATCTGGAGAGC -3'
(R):5'- CTGCACCAAGAATGTTCAGC -3'

Sequencing Primer
(F):5'- CCGAGGAAAGTTCTTGTGGTACC -3'
(R):5'- AACTGTCAGAGTGGCCTCAGATTC -3'

Posted On

2015-10-08