Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Zfp764l1'

594921

Institutional Source

Beutler Lab

Gene Symbol

Zfp764l1

Ensembl Gene

ENSMUSG00000078580

Gene Name

zinc finger protein 764 like 1

Synonyms

E430018J23Rik

MMRRC Submission

045774-MU

Accession Numbers

Essential gene?

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

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126988845-126992801 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126991259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 243 (M243L)

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 benign
Transcript: ENSMUST00000165495
AA Change: M243L

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

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: M243L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,162 (GRCm39)	C41Y	possibly damaging	Het
Abcg1	A	G	17: 31,328,493 (GRCm39)	I421V	probably benign	Het
Ank2	G	T	3: 126,736,815 (GRCm39)	T3023K	unknown	Het
Asb5	T	A	8: 55,038,021 (GRCm39)	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,386,902 (GRCm39)	V242I	probably benign	Het
Atp2a1	C	A	7: 126,061,359 (GRCm39)	G46V	possibly damaging	Het
Birc6	A	G	17: 74,869,056 (GRCm39)	S335G	probably damaging	Het
Bmp1	A	T	14: 70,715,362 (GRCm39)	Y924*	probably null	Het
Ccdc3	T	A	2: 5,143,113 (GRCm39)	F123L	probably benign	Het
Col6a6	C	A	9: 105,661,102 (GRCm39)	V336L	possibly damaging	Het
Cpe	T	C	8: 65,064,431 (GRCm39)	Y256C	probably damaging	Het
Creb1	T	A	1: 64,605,420 (GRCm39)	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,458,283 (GRCm39)	Y38N	probably damaging	Het
Cyren	T	C	6: 34,852,516 (GRCm39)	N60D	possibly damaging	Het
Dnajc1	A	G	2: 18,224,684 (GRCm39)	S390P	probably benign	Het
Edrf1	G	A	7: 133,245,455 (GRCm39)	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,774,511 (GRCm39)	S98P	probably damaging	Het
Emsy	G	A	7: 98,248,973 (GRCm39)	A812V	unknown	Het
Eppk1	A	T	15: 75,991,703 (GRCm39)	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274 (GRCm38)	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,662,209 (GRCm39)	R40W	probably damaging	Het
Gnpat	A	G	8: 125,603,673 (GRCm39)	R194G	probably benign	Het
Gpd1	G	A	15: 99,619,967 (GRCm39)	S255N	probably damaging	Het
Il17re	T	C	6: 113,439,930 (GRCm39)		probably null	Het
Inpp5d	G	A	1: 87,593,121 (GRCm39)	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,687,969 (GRCm39)	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,667,859 (GRCm39)		probably null	Het
Kansl1l	A	G	1: 66,840,292 (GRCm39)	V336A	probably damaging	Het
Klhdc4	T	A	8: 122,556,159 (GRCm39)	M21L	unknown	Het
Lgalsl2	T	C	7: 5,362,819 (GRCm39)	I150T	possibly damaging	Het
Lrguk	C	T	6: 34,072,474 (GRCm39)	A588V	probably damaging	Het
Marchf5	T	C	19: 37,197,822 (GRCm39)	Y164H	probably benign	Het
Mbip	T	A	12: 56,392,473 (GRCm39)	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Myh8	A	T	11: 67,189,478 (GRCm39)	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,830,589 (GRCm39)	I56K	probably benign	Het
Ndufs1	T	C	1: 63,192,016 (GRCm39)	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,753,651 (GRCm39)	L244P	probably damaging	Het
Or11h6	A	G	14: 50,879,815 (GRCm39)	T20A	probably benign	Het
Or14a258	A	T	7: 86,035,262 (GRCm39)	M202K	probably benign	Het
Pdc	A	C	1: 150,206,534 (GRCm39)	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,460 (GRCm39)	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,705,295 (GRCm39)	G900V	probably benign	Het
Plpp1	A	T	13: 112,993,323 (GRCm39)	H86L	probably benign	Het
Plpp1	T	G	13: 112,996,186 (GRCm39)	F168C	probably damaging	Het
Pms1	G	A	1: 53,246,767 (GRCm39)	P312S	probably damaging	Het
Prf1	G	A	10: 61,135,934 (GRCm39)	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,850,208 (GRCm39)	D19G	probably damaging	Het
Sdr42e1	T	A	8: 118,400,386 (GRCm39)		probably benign	Het
Serpinb8	C	T	1: 107,532,438 (GRCm39)	R177*	probably null	Het
Serpini1	A	C	3: 75,524,021 (GRCm39)	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,704,261 (GRCm39)	P305L	probably benign	Het
Smco3	T	A	6: 136,808,247 (GRCm39)	Y209F	probably damaging	Het
Smtn	C	G	11: 3,474,708 (GRCm39)	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Sri	T	A	5: 8,106,641 (GRCm39)		probably null	Het
Strn	G	A	17: 78,963,204 (GRCm39)	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,466,213 (GRCm39)	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,937,573 (GRCm39)	F628I	probably damaging	Het
Trrap	T	A	5: 144,713,956 (GRCm39)	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,633,090 (GRCm39)	G201C	probably damaging	Het
Tti1	T	A	2: 157,842,618 (GRCm39)	I804F	probably benign	Het
Unc5b	C	T	10: 60,613,217 (GRCm39)	G340R	probably damaging	Het
Usp13	C	A	3: 32,892,005 (GRCm39)	Y61*	probably null	Het
Vmn1r230	T	C	17: 21,067,144 (GRCm39)	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,038,704 (GRCm39)	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,308,018 (GRCm39)	V740A	probably benign	Het
Zbtb14	A	G	17: 69,694,415 (GRCm39)	I38V	probably benign	Het
Zfp623	T	C	15: 75,820,271 (GRCm39)	I409T	probably 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
R1828:Zfp764l1	UTSW	7	126,991,081 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTAAGGCTTCTCCCCAGTG -3'
(R):5'- AGAGTTTTGCCCACCAGTCC -3'

Sequencing Primer
(F):5'- TCTCCCCAGTGTGGACAC -3'
(R):5'- TCCAAACTGGTGGAGCAC -3'

Posted On

2019-11-12