Mutagenetix > Incidental Mutation

Incidental Mutation 'R8212:Zfp616'

636219

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

067635-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8212 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73960781-73978118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73976569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 946 (V946D)

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: V946D

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: V946D

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: 99.9%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,670,240 (GRCm39)	I2369V	probably benign	Het
Ager	G	A	17: 34,819,586 (GRCm39)	R368H	possibly damaging	Het
Arl2	G	T	19: 6,187,596 (GRCm39)	T84K	probably damaging	Het
Cfap126	A	T	1: 170,953,630 (GRCm39)	T67S	probably damaging	Het
Cfap45	A	G	1: 172,369,067 (GRCm39)		probably null	Het
Cfdp1	A	T	8: 112,571,815 (GRCm39)	N31K	probably damaging	Het
Clpx	A	G	9: 65,228,173 (GRCm39)	T408A	possibly damaging	Het
Cobll1	T	C	2: 64,932,424 (GRCm39)	N526S	probably benign	Het
Cpne1	T	C	2: 155,920,134 (GRCm39)	D215G	probably damaging	Het
Cstf1	T	C	2: 172,219,872 (GRCm39)	S328P	probably damaging	Het
Cyp2a22	T	C	7: 26,637,205 (GRCm39)	E193G	possibly damaging	Het
Fam83c	A	G	2: 155,671,207 (GRCm39)	F743L	probably benign	Het
Fn1	A	G	1: 71,682,064 (GRCm39)	I364T	probably benign	Het
Foxo3	T	C	10: 42,072,991 (GRCm39)	M509V	possibly damaging	Het
Galnt6	T	C	15: 100,591,308 (GRCm39)	T599A	probably benign	Het
Gm5114	A	G	7: 39,060,676 (GRCm39)	S58P	probably benign	Het
Gria4	G	A	9: 4,480,242 (GRCm39)	A402V	probably benign	Het
Heatr5a	C	A	12: 51,946,012 (GRCm39)	A1200S	probably benign	Het
Nlrp5	A	T	7: 23,116,762 (GRCm39)	D162V	probably benign	Het
Or14j6	T	C	17: 38,215,148 (GRCm39)	V237A	probably benign	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pcf11	G	A	7: 92,308,706 (GRCm39)	R589C	probably damaging	Het
Pkhd1l1	A	G	15: 44,362,696 (GRCm39)	D574G	probably benign	Het
Plb1	T	C	5: 32,422,250 (GRCm39)	S68P	probably damaging	Het
Plekhs1	A	G	19: 56,460,188 (GRCm39)	M95V	probably damaging	Het
Polr2h	T	C	16: 20,536,746 (GRCm39)		probably null	Het
Ppef2	T	A	5: 92,376,524 (GRCm39)	I668L	possibly damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rwdd1	A	G	10: 33,878,523 (GRCm39)	V104A	probably damaging	Het
Slc2a9	G	T	5: 38,637,402 (GRCm39)	H25N	probably benign	Het
Slc36a3	T	A	11: 55,015,907 (GRCm39)	I416F	probably damaging	Het
Sppl2b	T	A	10: 80,701,193 (GRCm39)	V356D	probably damaging	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Tln1	T	C	4: 43,555,918 (GRCm39)	T99A	probably damaging	Het
Tm9sf3	A	T	19: 41,229,074 (GRCm39)	M243K	probably damaging	Het
Trnt1	T	C	6: 106,746,832 (GRCm39)	Y6H	probably benign	Het
Ttn	T	A	2: 76,612,626 (GRCm39)	H17151L	probably benign	Het
Ube2o	A	G	11: 116,439,624 (GRCm39)	V182A	possibly damaging	Het
Zfhx2	G	T	14: 55,310,373 (GRCm39)	D724E	possibly damaging	Het

Other mutations in Zfp616

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Zfp616	APN	11	73,974,439 (GRCm39)	missense	probably damaging	0.98
IGL00570:Zfp616	APN	11	73,976,631 (GRCm39)	missense	probably benign	0.03
IGL00594:Zfp616	APN	11	73,973,789 (GRCm39)	missense	possibly damaging	0.72
IGL01861:Zfp616	APN	11	73,973,742 (GRCm39)	missense	possibly damaging	0.53
IGL03022:Zfp616	APN	11	73,973,800 (GRCm39)	missense	possibly damaging	0.85
R0197:Zfp616	UTSW	11	73,976,500 (GRCm39)	missense	probably damaging	1.00
R0442:Zfp616	UTSW	11	73,975,321 (GRCm39)	missense	possibly damaging	0.92
R0497:Zfp616	UTSW	11	73,974,306 (GRCm39)	missense	probably benign	0.00
R0651:Zfp616	UTSW	11	73,974,555 (GRCm39)	nonsense	probably null
R0730:Zfp616	UTSW	11	73,975,648 (GRCm39)	missense	probably damaging	1.00
R0883:Zfp616	UTSW	11	73,976,500 (GRCm39)	missense	probably damaging	1.00
R0926:Zfp616	UTSW	11	73,976,644 (GRCm39)	missense	probably benign	0.04
R0940:Zfp616	UTSW	11	73,975,850 (GRCm39)	missense	probably damaging	1.00
R1068:Zfp616	UTSW	11	73,973,767 (GRCm39)	makesense	probably null
R1272:Zfp616	UTSW	11	73,976,062 (GRCm39)	missense	probably benign	0.08
R1446:Zfp616	UTSW	11	73,974,064 (GRCm39)	splice site	probably null
R1482:Zfp616	UTSW	11	73,974,803 (GRCm39)	missense	possibly damaging	0.72
R1553:Zfp616	UTSW	11	73,974,744 (GRCm39)	missense	possibly damaging	0.53
R1564:Zfp616	UTSW	11	73,975,548 (GRCm39)	missense	probably damaging	1.00
R1728:Zfp616	UTSW	11	73,976,597 (GRCm39)	missense	probably damaging	0.99
R1796:Zfp616	UTSW	11	73,976,671 (GRCm39)	missense	probably damaging	0.98
R1797:Zfp616	UTSW	11	73,976,105 (GRCm39)	nonsense	probably null
R1993:Zfp616	UTSW	11	73,975,795 (GRCm39)	missense	probably benign	0.08
R2026:Zfp616	UTSW	11	73,974,413 (GRCm39)	missense	possibly damaging	0.86
R2124:Zfp616	UTSW	11	73,973,869 (GRCm39)	splice site	probably null
R2126:Zfp616	UTSW	11	73,976,229 (GRCm39)	missense	probably benign	0.08
R2199:Zfp616	UTSW	11	73,975,456 (GRCm39)	missense	possibly damaging	0.58
R2265:Zfp616	UTSW	11	73,976,289 (GRCm39)	missense	possibly damaging	0.89
R2404:Zfp616	UTSW	11	73,975,682 (GRCm39)	missense	probably damaging	1.00
R2508:Zfp616	UTSW	11	73,974,121 (GRCm39)	missense	probably benign	0.01
R2519:Zfp616	UTSW	11	73,975,094 (GRCm39)	nonsense	probably null
R3103:Zfp616	UTSW	11	73,962,561 (GRCm39)	missense	probably benign	0.01
R3611:Zfp616	UTSW	11	73,974,268 (GRCm39)	missense	possibly damaging	0.53
R3703:Zfp616	UTSW	11	73,974,145 (GRCm39)	nonsense	probably null
R3744:Zfp616	UTSW	11	73,974,813 (GRCm39)	missense	probably benign	0.01
R4043:Zfp616	UTSW	11	73,976,108 (GRCm39)	missense	possibly damaging	0.50
R4273:Zfp616	UTSW	11	73,974,526 (GRCm39)	missense	probably benign	0.00
R4384:Zfp616	UTSW	11	73,974,005 (GRCm39)	missense	possibly damaging	0.94
R4469:Zfp616	UTSW	11	73,961,950 (GRCm39)	missense	probably damaging	0.98
R4560:Zfp616	UTSW	11	73,973,860 (GRCm39)	missense	probably benign	0.00
R4821:Zfp616	UTSW	11	73,975,033 (GRCm39)	missense	probably benign	0.41
R4844:Zfp616	UTSW	11	73,975,225 (GRCm39)	missense	probably benign	0.10
R4948:Zfp616	UTSW	11	73,974,830 (GRCm39)	missense	possibly damaging	0.72
R5007:Zfp616	UTSW	11	73,974,643 (GRCm39)	missense	possibly damaging	0.96
R5198:Zfp616	UTSW	11	73,974,336 (GRCm39)	missense	probably benign	0.33
R5344:Zfp616	UTSW	11	73,975,321 (GRCm39)	missense	possibly damaging	0.92
R5918:Zfp616	UTSW	11	73,974,086 (GRCm39)	missense	possibly damaging	0.70
R5933:Zfp616	UTSW	11	73,973,952 (GRCm39)	missense	probably damaging	0.96
R6084:Zfp616	UTSW	11	73,974,672 (GRCm39)	nonsense	probably null
R6421:Zfp616	UTSW	11	73,974,696 (GRCm39)	missense	possibly damaging	0.53
R6494:Zfp616	UTSW	11	73,976,018 (GRCm39)	missense	probably damaging	1.00
R6523:Zfp616	UTSW	11	73,973,968 (GRCm39)	missense	possibly damaging	0.79
R6849:Zfp616	UTSW	11	73,976,276 (GRCm39)	missense	possibly damaging	0.70
R6910:Zfp616	UTSW	11	73,975,828 (GRCm39)	missense	probably damaging	1.00
R7146:Zfp616	UTSW	11	73,976,087 (GRCm39)	missense	possibly damaging	0.61
R7213:Zfp616	UTSW	11	73,976,689 (GRCm39)	missense	probably benign	0.05
R7302:Zfp616	UTSW	11	73,976,205 (GRCm39)	missense	probably benign	0.08
R7391:Zfp616	UTSW	11	73,976,155 (GRCm39)	missense	probably benign	0.08
R7654:Zfp616	UTSW	11	73,974,013 (GRCm39)	missense	possibly damaging	0.53
R7877:Zfp616	UTSW	11	73,975,188 (GRCm39)	missense	probably damaging	1.00
R7889:Zfp616	UTSW	11	73,976,271 (GRCm39)	missense	probably damaging	1.00
R8022:Zfp616	UTSW	11	73,974,894 (GRCm39)	missense	probably benign
R8061:Zfp616	UTSW	11	73,974,340 (GRCm39)	missense	possibly damaging	0.96
R8335:Zfp616	UTSW	11	73,974,726 (GRCm39)	nonsense	probably null
R8361:Zfp616	UTSW	11	73,975,476 (GRCm39)	missense	probably damaging	0.98
R8486:Zfp616	UTSW	11	73,974,909 (GRCm39)	missense	probably benign	0.18
R8695:Zfp616	UTSW	11	73,975,710 (GRCm39)	missense	probably benign	0.45
R8808:Zfp616	UTSW	11	73,976,523 (GRCm39)	missense	probably damaging	1.00
R9022:Zfp616	UTSW	11	73,976,539 (GRCm39)	missense	probably damaging	1.00
R9126:Zfp616	UTSW	11	73,976,280 (GRCm39)	missense	probably damaging	1.00
R9164:Zfp616	UTSW	11	73,975,825 (GRCm39)	missense	probably damaging	1.00
R9293:Zfp616	UTSW	11	73,974,744 (GRCm39)	missense	possibly damaging	0.53
R9421:Zfp616	UTSW	11	73,974,331 (GRCm39)	missense	possibly damaging	0.72
R9512:Zfp616	UTSW	11	73,975,936 (GRCm39)	missense	probably damaging	1.00
R9529:Zfp616	UTSW	11	73,976,596 (GRCm39)	missense	possibly damaging	0.90
R9529:Zfp616	UTSW	11	73,975,660 (GRCm39)	missense	probably damaging	1.00
R9606:Zfp616	UTSW	11	73,976,220 (GRCm39)	missense	probably damaging	1.00
R9708:Zfp616	UTSW	11	73,976,283 (GRCm39)	missense	probably damaging	1.00
R9788:Zfp616	UTSW	11	73,975,276 (GRCm39)	missense	probably damaging	0.99
Z1176:Zfp616	UTSW	11	73,976,467 (GRCm39)	missense	possibly damaging	0.90
Z1176:Zfp616	UTSW	11	73,974,045 (GRCm39)	missense	possibly damaging	0.72
Z1176:Zfp616	UTSW	11	73,973,859 (GRCm39)	missense	probably benign
Z1177:Zfp616	UTSW	11	73,975,878 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGCCCAGTCTTCAAATCTTCAAG -3'
(R):5'- GGAAGCTTGTAGTTTTGAGGACT -3'

Sequencing Primer
(F):5'- GGTAAATATTTTGCCCGTTCCTCAAG -3'
(R):5'- GAGGACTGTGTAAATGATTTCCCAC -3'

Posted On

2020-07-13