Mutagenetix > Incidental Mutation

Incidental Mutation 'R9164:Zfp616'

695935

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9164 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74069955-74087292 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74084999 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 698 (I698N)

Ref Sequence

ENSEMBL: ENSMUSP00000136549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074813] [ENSMUST00000108463] [ENSMUST00000116546] [ENSMUST00000178159]

AlphaFold

J3QN14

Predicted Effect

probably benign
Transcript: ENSMUST00000074813

SMART Domains

Protein: ENSMUSP00000074365
Gene: ENSMUSG00000069476

Domain	Start	End	E-Value	Type
KRAB	8	68	1.79e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108463

SMART Domains

Protein: ENSMUSP00000104103
Gene: ENSMUSG00000069476

Domain	Start	End	E-Value	Type
KRAB	8	68	1.79e-34	SMART
low complexity region	249	258	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000116546

SMART Domains

Protein: ENSMUSP00000112245
Gene: ENSMUSG00000069476

Domain	Start	End	E-Value	Type
KRAB	8	68	1.79e-34	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000178159
AA Change: I698N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: I698N

Domain	Start	End	E-Value	Type
internal_repeat_1	125	447	7.61e-6	PROSPERO
ZnF_C2H2	452	474	3.11e-2	SMART
ZnF_C2H2	509	531	2.61e-4	SMART
ZnF_C2H2	537	559	1.47e-3	SMART
ZnF_C2H2	565	587	5.21e-4	SMART
ZnF_C2H2	593	615	1.22e-4	SMART
ZnF_C2H2	621	643	2.57e-3	SMART
ZnF_C2H2	649	671	9.22e-5	SMART
ZnF_C2H2	677	699	5.9e-3	SMART
ZnF_C2H2	705	727	4.94e-5	SMART
ZnF_C2H2	733	755	8.34e-3	SMART
ZnF_C2H2	761	783	1.6e-4	SMART
ZnF_C2H2	789	811	6.88e-4	SMART
ZnF_C2H2	817	839	1.6e-4	SMART
ZnF_C2H2	845	867	1.3e-4	SMART
ZnF_C2H2	873	895	7.37e-4	SMART
ZnF_C2H2	901	923	1.6e-4	SMART
ZnF_C2H2	929	951	1.3e-4	SMART
ZnF_C2H2	957	979	3.95e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,328,157	E3112D	probably damaging	Het
Abtb2	C	T	2: 103,711,484	T847I	possibly damaging	Het
Acox1	A	T	11: 116,198,347	H48Q	probably benign	Het
Adam9	A	G	8: 24,996,779	I161T	possibly damaging	Het
Ankrd50	A	G	3: 38,457,055	Y388H	probably damaging	Het
Arap1	A	T	7: 101,391,883	K593*	probably null	Het
Bicc1	G	A	10: 70,945,264	T661M	probably damaging	Het
Cela1	A	G	15: 100,682,885		probably null	Het
Celf1	T	A	2: 91,001,081	L85H	probably damaging	Het
Cep120	A	T	18: 53,719,246	M520K	probably benign	Het
Chd1l	C	T	3: 97,594,040	R230H	probably benign	Het
Cyp2c55	A	T	19: 39,007,127	K28*	probably null	Het
D930048N14Rik	A	T	11: 51,654,782	H167L	unknown	Het
Ddx58	T	A	4: 40,208,827	M762L	probably damaging	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Dock4	T	A	12: 40,704,338	I442N	probably damaging	Het
Dpp6	T	C	5: 27,451,288		probably null	Het
Dysf	T	C	6: 84,203,326	C1960R	probably damaging	Het
Gm13941	T	C	2: 111,105,979	S2G	unknown	Het
Gm37240	T	C	3: 84,509,941	N157S	possibly damaging	Het
Gp1ba	A	G	11: 70,640,457	I350V	unknown	Het
Gtf3c4	A	G	2: 28,834,649	V357A	probably benign	Het
Hemgn	T	C	4: 46,396,106	I377V	probably benign	Het
Hsd3b3	T	C	3: 98,753,373	D28G	probably benign	Het
Intu	A	T	3: 40,690,703	D508V	probably damaging	Het
Kif28	A	T	1: 179,705,768	M604K	probably damaging	Het
Klra6	T	A	6: 130,016,724	I195F	possibly damaging	Het
Lhfp	G	A	3: 53,043,466	V54I	probably benign	Het
Lrpap1	T	C	5: 35,105,579	Y38C	probably damaging	Het
Maats1	A	G	16: 38,335,598	Y88H	possibly damaging	Het
Map1b	T	A	13: 99,425,843	Q2453L	unknown	Het
Map1b	C	A	13: 99,432,308	E1302*	probably null	Het
Map7	C	T	10: 20,246,664	R159C	probably benign	Het
Mov10l1	C	T	15: 89,012,158	T735I	probably benign	Het
Nfasc	C	A	1: 132,634,806	R77L	probably damaging	Het
Nipsnap1	T	C	11: 4,889,969	V230A	probably benign	Het
Olfr1206	C	T	2: 88,865,451	P282L	possibly damaging	Het
Olfr857	T	A	9: 19,713,658	M277K	probably benign	Het
Olfr860	T	A	9: 19,846,208	N137I	possibly damaging	Het
Orm3	T	C	4: 63,356,572	L39P	probably damaging	Het
Pcdhb19	T	A	18: 37,498,799	V549E	probably damaging	Het
Pclo	T	A	5: 14,681,685	S274R		Het
Phactr1	A	G	13: 42,682,702	D2G	possibly damaging	Het
Phtf2	G	A	5: 20,803,192	R164*	probably null	Het
Prkcq	A	G	2: 11,226,905	D13G	probably damaging	Het
Proser1	A	T	3: 53,472,073	N156I	probably benign	Het
Prss51	T	C	14: 64,097,509	I171T	probably damaging	Het
Ptbp2	G	A	3: 119,752,991	P81S	probably damaging	Het
Ptk2b	T	C	14: 66,166,773	D681G	possibly damaging	Het
Slc7a12	A	T	3: 14,499,300	I349F	probably damaging	Het
Sorcs2	G	T	5: 36,077,968	T240K	possibly damaging	Het
Sowahc	C	A	10: 59,222,075	A11E	probably benign	Het
Spag1	A	T	15: 36,216,253	Y526F	probably damaging	Het
Stim1	A	G	7: 102,435,419	H526R	probably benign	Het
Stx1b	T	C	7: 127,814,987	K69R	probably benign	Het
Tal1	T	C	4: 115,063,449	S107P	probably benign	Het
Tas2r130	T	C	6: 131,630,012	I273M	probably damaging	Het
Ttc24	A	T	3: 88,072,988	Y135*	probably null	Het
Ttn	G	A	2: 76,753,512	P22384S	probably damaging	Het
Vmn2r14	T	G	5: 109,216,221	T610P	probably damaging	Het
Vmn2r84	T	A	10: 130,385,800	*850C	probably null	Het
Vwf	T	A	6: 125,565,843	I94N		Het
Zan	A	T	5: 137,424,071	S2762T	unknown	Het
Zbtb20	A	G	16: 43,610,401	Q352R	probably benign	Het
Zfc3h1	T	C	10: 115,423,469	Y1649H	probably benign	Het
Zfp397	A	T	18: 23,956,771	Q111L	probably damaging	Het

Other mutations in Zfp616

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Zfp616	APN	11	74083613	missense	probably damaging	0.98
IGL00570:Zfp616	APN	11	74085805	missense	probably benign	0.03
IGL00594:Zfp616	APN	11	74082963	missense	possibly damaging	0.72
IGL01861:Zfp616	APN	11	74082916	missense	possibly damaging	0.53
IGL03022:Zfp616	APN	11	74082974	missense	possibly damaging	0.85
R0197:Zfp616	UTSW	11	74085674	missense	probably damaging	1.00
R0442:Zfp616	UTSW	11	74084495	missense	possibly damaging	0.92
R0497:Zfp616	UTSW	11	74083480	missense	probably benign	0.00
R0651:Zfp616	UTSW	11	74083729	nonsense	probably null
R0730:Zfp616	UTSW	11	74084822	missense	probably damaging	1.00
R0883:Zfp616	UTSW	11	74085674	missense	probably damaging	1.00
R0926:Zfp616	UTSW	11	74085818	missense	probably benign	0.04
R0940:Zfp616	UTSW	11	74085024	missense	probably damaging	1.00
R1068:Zfp616	UTSW	11	74082941	makesense	probably null
R1272:Zfp616	UTSW	11	74085236	missense	probably benign	0.08
R1446:Zfp616	UTSW	11	74083238	splice site	probably null
R1482:Zfp616	UTSW	11	74083977	missense	possibly damaging	0.72
R1553:Zfp616	UTSW	11	74083918	missense	possibly damaging	0.53
R1564:Zfp616	UTSW	11	74084722	missense	probably damaging	1.00
R1728:Zfp616	UTSW	11	74085771	missense	probably damaging	0.99
R1796:Zfp616	UTSW	11	74085845	missense	probably damaging	0.98
R1797:Zfp616	UTSW	11	74085279	nonsense	probably null
R1993:Zfp616	UTSW	11	74084969	missense	probably benign	0.08
R2026:Zfp616	UTSW	11	74083587	missense	possibly damaging	0.86
R2124:Zfp616	UTSW	11	74083043	splice site	probably null
R2126:Zfp616	UTSW	11	74085403	missense	probably benign	0.08
R2199:Zfp616	UTSW	11	74084630	missense	possibly damaging	0.58
R2265:Zfp616	UTSW	11	74085463	missense	possibly damaging	0.89
R2404:Zfp616	UTSW	11	74084856	missense	probably damaging	1.00
R2508:Zfp616	UTSW	11	74083295	missense	probably benign	0.01
R2519:Zfp616	UTSW	11	74084268	nonsense	probably null
R3103:Zfp616	UTSW	11	74071735	missense	probably benign	0.01
R3611:Zfp616	UTSW	11	74083442	missense	possibly damaging	0.53
R3703:Zfp616	UTSW	11	74083319	nonsense	probably null
R3744:Zfp616	UTSW	11	74083987	missense	probably benign	0.01
R4043:Zfp616	UTSW	11	74085282	missense	possibly damaging	0.50
R4273:Zfp616	UTSW	11	74083700	missense	probably benign	0.00
R4384:Zfp616	UTSW	11	74083179	missense	possibly damaging	0.94
R4469:Zfp616	UTSW	11	74071124	missense	probably damaging	0.98
R4560:Zfp616	UTSW	11	74083034	missense	probably benign	0.00
R4821:Zfp616	UTSW	11	74084207	missense	probably benign	0.41
R4844:Zfp616	UTSW	11	74084399	missense	probably benign	0.10
R4948:Zfp616	UTSW	11	74084004	missense	possibly damaging	0.72
R5007:Zfp616	UTSW	11	74083817	missense	possibly damaging	0.96
R5198:Zfp616	UTSW	11	74083510	missense	probably benign	0.33
R5344:Zfp616	UTSW	11	74084495	missense	possibly damaging	0.92
R5918:Zfp616	UTSW	11	74083260	missense	possibly damaging	0.70
R5933:Zfp616	UTSW	11	74083126	missense	probably damaging	0.96
R6084:Zfp616	UTSW	11	74083846	nonsense	probably null
R6421:Zfp616	UTSW	11	74083870	missense	possibly damaging	0.53
R6494:Zfp616	UTSW	11	74085192	missense	probably damaging	1.00
R6523:Zfp616	UTSW	11	74083142	missense	possibly damaging	0.79
R6849:Zfp616	UTSW	11	74085450	missense	possibly damaging	0.70
R6910:Zfp616	UTSW	11	74085002	missense	probably damaging	1.00
R7146:Zfp616	UTSW	11	74085261	missense	possibly damaging	0.61
R7213:Zfp616	UTSW	11	74085863	missense	probably benign	0.05
R7302:Zfp616	UTSW	11	74085379	missense	probably benign	0.08
R7391:Zfp616	UTSW	11	74085329	missense	probably benign	0.08
R7654:Zfp616	UTSW	11	74083187	missense	possibly damaging	0.53
R7877:Zfp616	UTSW	11	74084362	missense	probably damaging	1.00
R7889:Zfp616	UTSW	11	74085445	missense	probably damaging	1.00
R8022:Zfp616	UTSW	11	74084068	missense	probably benign
R8061:Zfp616	UTSW	11	74083514	missense	possibly damaging	0.96
R8212:Zfp616	UTSW	11	74085743	missense	probably damaging	0.96
R8335:Zfp616	UTSW	11	74083900	nonsense	probably null
R8361:Zfp616	UTSW	11	74084650	missense	probably damaging	0.98
R8486:Zfp616	UTSW	11	74084083	missense	probably benign	0.18
R8695:Zfp616	UTSW	11	74084884	missense	probably benign	0.45
R8808:Zfp616	UTSW	11	74085697	missense	probably damaging	1.00
R9022:Zfp616	UTSW	11	74085713	missense	probably damaging	1.00
R9126:Zfp616	UTSW	11	74085454	missense	probably damaging	1.00
R9293:Zfp616	UTSW	11	74083918	missense	possibly damaging	0.53
R9421:Zfp616	UTSW	11	74083505	missense	possibly damaging	0.72
R9512:Zfp616	UTSW	11	74085110	missense	probably damaging	1.00
R9529:Zfp616	UTSW	11	74084834	missense	probably damaging	1.00
R9529:Zfp616	UTSW	11	74085770	missense	possibly damaging	0.90
Z1176:Zfp616	UTSW	11	74083033	missense	probably benign
Z1176:Zfp616	UTSW	11	74083219	missense	possibly damaging	0.72
Z1176:Zfp616	UTSW	11	74085641	missense	possibly damaging	0.90
Z1177:Zfp616	UTSW	11	74085052	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- CTCAGGTCTTAAAAGGCACTACAG -3'
(R):5'- TGAAGATTTGAAGACTGGGCA -3'

Sequencing Primer
(F):5'- GCCCATTCCTCAAGTCTTAAAG -3'
(R):5'- GAAGACTGGGCAAAATATTTACCAC -3'

Posted On

2022-02-07