Mutagenetix > Incidental Mutation

Incidental Mutation 'R1828:Zfp764l1'

207019

Institutional Source

Beutler Lab

Gene Symbol

Zfp764l1

Ensembl Gene

ENSMUSG00000078580

Gene Name

zinc finger protein 764 like 1

Synonyms

E430018J23Rik

MMRRC Submission

039855-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1828 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126988845-126992801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126991081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 302 (H302L)

Ref Sequence

ENSEMBL: ENSMUSP00000126288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049052] [ENSMUST00000074249] [ENSMUST00000106303] [ENSMUST00000164345] [ENSMUST00000165495]

AlphaFold

E9PZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000049052

SMART Domains

Protein: ENSMUSP00000038195
Gene: ENSMUSG00000030823

Domain	Start	End	E-Value	Type
KRAB	22	82	5.44e-25	SMART
low complexity region	102	115	N/A	INTRINSIC
ZnF_C2H2	152	174	6.88e-4	SMART
ZnF_C2H2	180	202	1.47e-3	SMART
ZnF_C2H2	208	230	5.29e-5	SMART
ZnF_C2H2	236	258	4.87e-4	SMART
ZnF_C2H2	264	286	3.69e-4	SMART
ZnF_C2H2	292	314	1.47e-3	SMART
ZnF_C2H2	320	342	5.21e-4	SMART
ZnF_C2H2	348	370	1.45e-2	SMART
ZnF_C2H2	376	398	2.12e-4	SMART
ZnF_C2H2	404	427	1.45e-2	SMART
ZnF_C2H2	433	455	3.69e-4	SMART
ZnF_C2H2	461	483	6.67e-2	SMART
ZnF_C2H2	489	511	1.67e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074249

SMART Domains

Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580

Domain	Start	End	E-Value	Type
KRAB	22	79	4.43e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106303

SMART Domains

Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580

Domain	Start	End	E-Value	Type
KRAB	22	81	9.25e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164345

SMART Domains

Protein: ENSMUSP00000131610
Gene: ENSMUSG00000030823

Domain	Start	End	E-Value	Type
KRAB	22	67	1.65e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000165495
AA Change: H302L

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

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: H302L

Domain	Start	End	E-Value	Type
KRAB	22	82	4.09e-29	SMART
ZnF_C2H2	168	190	2.2e-2	SMART
ZnF_C2H2	196	218	4.79e-3	SMART
ZnF_C2H2	224	246	4.3e-5	SMART
ZnF_C2H2	252	274	7.9e-4	SMART
ZnF_C2H2	280	302	9.58e-3	SMART
ZnF_C2H2	308	331	2.36e-2	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.69e-3	SMART
ZnF_C2H2	393	415	2.2e-2	SMART

Coding Region Coverage

1x: 97.4%
3x: 96.9%
10x: 95.2%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130008F23Rik	T	C	17: 41,190,962 (GRCm39)	T156A	probably benign	Het
9230106D20Rik	A	T	10: 19,536,065 (GRCm39)		noncoding transcript	Het
Abca3	A	G	17: 24,585,171 (GRCm39)	D144G	probably benign	Het
Anxa2	T	A	9: 69,390,260 (GRCm39)	L121Q	probably damaging	Het
Anxa7	A	T	14: 20,512,732 (GRCm39)	I267N	probably damaging	Het
Asb14	A	T	14: 26,633,797 (GRCm39)	D334V	possibly damaging	Het
Batf3	A	G	1: 190,830,714 (GRCm39)	N20S	probably benign	Het
Bub1b	A	G	2: 118,468,920 (GRCm39)	H895R	probably benign	Het
C1qtnf12	G	A	4: 156,050,160 (GRCm39)		probably null	Het
Cars1	T	C	7: 143,130,385 (GRCm39)	I294V	probably damaging	Het
Ccdc142	G	A	6: 83,084,462 (GRCm39)	A527T	probably damaging	Het
Ccdc168	A	T	1: 44,096,234 (GRCm39)	N1621K	possibly damaging	Het
Ccdc92	T	C	5: 124,913,242 (GRCm39)	N96D	probably benign	Het
Ceacam18	T	A	7: 43,288,880 (GRCm39)	D210E	probably benign	Het
Cenpe	A	G	3: 134,952,257 (GRCm39)	T1373A	probably damaging	Het
Cfap161	T	G	7: 83,440,932 (GRCm39)		probably null	Het
Cimip4	T	C	15: 78,270,588 (GRCm39)	Y60C	possibly damaging	Het
Cldn19	A	G	4: 119,112,990 (GRCm39)	D74G	probably benign	Het
Clec12a	A	G	6: 129,330,762 (GRCm39)	T115A	probably damaging	Het
Cox7a2l	T	A	17: 83,811,397 (GRCm39)	Q78L	probably benign	Het
Crot	T	C	5: 9,019,080 (GRCm39)	N491S	probably benign	Het
Cspg4b	T	A	13: 113,505,342 (GRCm39)	L2157Q	probably damaging	Het
Ctr9	A	G	7: 110,643,165 (GRCm39)		probably null	Het
Cyp4f14	T	G	17: 33,130,209 (GRCm39)	D190A	probably damaging	Het
D630039A03Rik	C	T	4: 57,910,240 (GRCm39)	V191I	probably benign	Het
Dnah10	A	T	5: 124,838,343 (GRCm39)	N1124I	probably benign	Het
Duox1	T	A	2: 122,177,861 (GRCm39)	Y1548*	probably null	Het
Epdr1	G	A	13: 19,778,773 (GRCm39)	Q6*	probably null	Het
Erbin	A	G	13: 103,996,577 (GRCm39)		probably null	Het
Ero1a	A	T	14: 45,525,217 (GRCm39)	I436K	probably damaging	Het
Exph5	A	T	9: 53,287,941 (GRCm39)	Q1674L	possibly damaging	Het
Fat4	A	T	3: 39,037,607 (GRCm39)	Y3753F	probably damaging	Het
Gaa	T	C	11: 119,174,098 (GRCm39)	V763A	probably damaging	Het
Golim4	G	A	3: 75,809,745 (GRCm39)	T216I	probably damaging	Het
Gpr83	G	T	9: 14,779,629 (GRCm39)	C269F	possibly damaging	Het
Gtf2f2	A	G	14: 76,245,143 (GRCm39)		probably null	Het
Gtf3c5	T	C	2: 28,469,694 (GRCm39)	Y70C	probably damaging	Het
Hao1	T	A	2: 134,372,584 (GRCm39)	R141S	probably benign	Het
Hecw2	T	C	1: 53,965,182 (GRCm39)	D548G	probably benign	Het
Hr	G	A	14: 70,809,477 (GRCm39)		probably null	Het
Hrg	A	C	16: 22,774,853 (GRCm39)	E161A	probably damaging	Het
Hydin	A	T	8: 111,237,526 (GRCm39)	N1933I	probably benign	Het
Itpr2	A	G	6: 146,229,830 (GRCm39)	L1255P	probably damaging	Het
Kcnma1	C	A	14: 23,380,997 (GRCm39)	D903Y	probably damaging	Het
Kif5c	T	C	2: 49,570,252 (GRCm39)		probably null	Het
Mgat5b	C	A	11: 116,868,614 (GRCm39)	H512Q	probably damaging	Het
Mtmr4	T	C	11: 87,502,943 (GRCm39)	V999A	probably benign	Het
Mttp	G	T	3: 137,813,041 (GRCm39)	Q545K	probably damaging	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nexn	A	G	3: 151,948,405 (GRCm39)	I386T	probably damaging	Het
Nrip3	A	G	7: 109,365,763 (GRCm39)	S85P	probably benign	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Olr1	T	C	6: 129,465,895 (GRCm39)	N37S	possibly damaging	Het
Or14j5	C	T	17: 38,161,966 (GRCm39)	A161V	probably benign	Het
Or4b1d	A	G	2: 89,968,931 (GRCm39)	L184S	probably damaging	Het
Or4c105	A	T	2: 88,648,402 (GRCm39)	I296F	probably benign	Het
Or55b3	A	G	7: 102,126,720 (GRCm39)	L119P	probably damaging	Het
Or5p80	G	T	7: 108,229,855 (GRCm39)	V219F	possibly damaging	Het
Pax4	T	C	6: 28,443,446 (GRCm39)	Y290C	probably benign	Het
Pcdhb2	T	A	18: 37,429,038 (GRCm39)	V337D	probably damaging	Het
Pglyrp4	T	C	3: 90,640,310 (GRCm39)	Y187H	probably damaging	Het
Pi4ka	A	G	16: 17,098,614 (GRCm39)	M2017T	probably benign	Het
Pkdrej	T	C	15: 85,703,483 (GRCm39)	T818A	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Pygm	T	C	19: 6,447,637 (GRCm39)	I648T	possibly damaging	Het
Rab4a	A	T	8: 124,550,565 (GRCm39)	K15I	probably damaging	Het
Rasa3	T	C	8: 13,635,035 (GRCm39)	E428G	probably benign	Het
Rnf182	G	A	13: 43,822,010 (GRCm39)	W187*	probably null	Het
Rpl3	C	T	15: 79,964,591 (GRCm39)	V222M	possibly damaging	Het
Rtl9	C	T	X: 141,886,011 (GRCm39)	S1141F	possibly damaging	Het
S100a11	A	T	3: 93,433,428 (GRCm39)	I91F	probably benign	Het
Sfswap	C	T	5: 129,590,148 (GRCm39)	T215I	probably damaging	Het
Slit2	A	G	5: 48,461,372 (GRCm39)	D1456G	probably damaging	Het
Tex19.2	C	T	11: 121,008,317 (GRCm39)	V44I	probably benign	Het
Tmem127	G	A	2: 127,098,094 (GRCm39)		probably null	Het
Tpd52	G	T	3: 9,012,579 (GRCm39)	N59K	probably damaging	Het
Trpc3	G	A	3: 36,692,695 (GRCm39)	P766S	possibly damaging	Het
Usp17la	T	A	7: 104,510,331 (GRCm39)	V312D	probably damaging	Het
Xirp2	A	G	2: 67,345,582 (GRCm39)	N2608D	possibly damaging	Het
Zscan25	C	A	5: 145,227,858 (GRCm39)	H507Q	possibly damaging	Het

Other mutations in Zfp764l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:Zfp764l1	APN	7	126,991,208 (GRCm39)	missense	possibly damaging	0.92
IGL01782:Zfp764l1	APN	7	126,992,476 (GRCm39)	missense	probably benign	0.02
IGL02174:Zfp764l1	APN	7	126,991,525 (GRCm39)	missense	possibly damaging	0.54
IGL02882:Zfp764l1	APN	7	126,991,424 (GRCm39)	missense	probably damaging	1.00
IGL03152:Zfp764l1	APN	7	126,991,469 (GRCm39)	missense	probably damaging	1.00
R0552:Zfp764l1	UTSW	7	126,991,504 (GRCm39)	missense	possibly damaging	0.92
R1843:Zfp764l1	UTSW	7	126,990,660 (GRCm39)	missense	probably benign	0.32
R1866:Zfp764l1	UTSW	7	126,992,503 (GRCm39)	missense	probably damaging	1.00
R3429:Zfp764l1	UTSW	7	126,990,914 (GRCm39)	missense	possibly damaging	0.79
R4433:Zfp764l1	UTSW	7	126,992,174 (GRCm39)	missense	possibly damaging	0.75
R4933:Zfp764l1	UTSW	7	126,992,521 (GRCm39)	missense	probably damaging	1.00
R5292:Zfp764l1	UTSW	7	126,991,659 (GRCm39)	missense	possibly damaging	0.48
R6218:Zfp764l1	UTSW	7	126,992,581 (GRCm39)	missense	possibly damaging	0.85
R6667:Zfp764l1	UTSW	7	126,992,595 (GRCm39)	missense	probably benign	0.35
R6712:Zfp764l1	UTSW	7	126,991,482 (GRCm39)	missense	probably damaging	1.00
R7108:Zfp764l1	UTSW	7	126,990,695 (GRCm39)	missense	probably benign	0.05
R7214:Zfp764l1	UTSW	7	126,990,695 (GRCm39)	missense	probably benign	0.05
R7215:Zfp764l1	UTSW	7	126,990,695 (GRCm39)	missense	probably benign	0.05
R7216:Zfp764l1	UTSW	7	126,990,695 (GRCm39)	missense	probably benign	0.05
R7313:Zfp764l1	UTSW	7	126,990,856 (GRCm39)	missense	probably benign	0.23
R7396:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7397:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7398:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7478:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7479:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7480:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7481:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7512:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7652:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7716:Zfp764l1	UTSW	7	126,991,259 (GRCm39)	missense	probably benign
R7820:Zfp764l1	UTSW	7	126,990,608 (GRCm39)	missense	possibly damaging	0.84
R7923:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R7999:Zfp764l1	UTSW	7	126,991,600 (GRCm39)	missense	probably damaging	0.98
R8097:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8098:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8100:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8182:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8184:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8185:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8309:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8389:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8433:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R8436:Zfp764l1	UTSW	7	126,992,496 (GRCm39)	missense	probably null	0.88
R9196:Zfp764l1	UTSW	7	126,990,761 (GRCm39)	missense	probably benign	0.02
R9779:Zfp764l1	UTSW	7	126,991,469 (GRCm39)	missense	probably damaging	1.00
X0022:Zfp764l1	UTSW	7	126,992,442 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTTTTCACCCGTGTGG -3'
(R):5'- AAGAGTTTTACCCAGCGGTCC -3'

Sequencing Primer
(F):5'- GGTGCGCATGTGACACTG -3'
(R):5'- ACATTGGTGGCGCACATGTAC -3'

Posted On

2014-06-23