Mutagenetix > Incidental Mutation

Incidental Mutation 'R6494:Zfp616'

522969

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

044626-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6494 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

73960781-73978118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 73976018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 762 (K762N)

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

noncoding transcript
Transcript: ENSMUST00000137407

Predicted Effect

probably damaging
Transcript: ENSMUST00000178159
AA Change: K762N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: K762N

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: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,315,774 (GRCm39)	L52P	possibly damaging	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Chic2	T	C	5: 75,204,943 (GRCm39)	E6G	probably benign	Het
Clca4a	T	A	3: 144,663,059 (GRCm39)	T597S	probably benign	Het
Col5a2	C	A	1: 45,417,487 (GRCm39)	D1363Y	probably damaging	Het
Csmd1	C	T	8: 16,261,709 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,138,591 (GRCm39)	Y211F	probably damaging	Het
Efcab3	A	T	11: 104,990,845 (GRCm39)	Y5460F	possibly damaging	Het
Efcab6	T	A	15: 83,928,523 (GRCm39)		probably null	Het
Eno4	T	A	19: 58,951,226 (GRCm39)	Y237N	probably damaging	Het
Fer1l4	T	A	2: 155,887,390 (GRCm39)	D602V	probably benign	Het
Fgfr2	T	C	7: 129,800,280 (GRCm39)	N337S	probably damaging	Het
Fras1	C	T	5: 96,907,423 (GRCm39)	R3203C	possibly damaging	Het
Gbp2	T	A	3: 142,337,769 (GRCm39)	V295E	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Hyal4	A	G	6: 24,765,745 (GRCm39)	I366M	possibly damaging	Het
Itsn2	C	T	12: 4,684,792 (GRCm39)	R448*	probably null	Het
Klhl35	G	T	7: 99,122,106 (GRCm39)	W69L	probably damaging	Het
Kpnb1	T	C	11: 97,072,474 (GRCm39)	I154V	probably benign	Het
Lax1	T	A	1: 133,608,186 (GRCm39)	Y185F	probably damaging	Het
Mmp12	C	T	9: 7,353,479 (GRCm39)	P208L	probably damaging	Het
Ndufb8	C	T	19: 44,543,744 (GRCm39)	V33M	probably null	Het
Nptn	T	G	9: 58,531,035 (GRCm39)	C169G	probably damaging	Het
Nuggc	A	T	14: 65,885,671 (GRCm39)	E766V	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,139,520 (GRCm39)	N149I	possibly damaging	Het
Or12e14	A	T	2: 87,187,976 (GRCm39)	K63*	probably null	Het
Pcdhga6	T	A	18: 37,841,594 (GRCm39)	I438N	probably damaging	Het
Pkn2	T	C	3: 142,509,429 (GRCm39)	N721S	possibly damaging	Het
Pole	T	C	5: 110,472,588 (GRCm39)	W1590R	possibly damaging	Het
Prph2	A	G	17: 47,222,007 (GRCm39)	T129A	probably benign	Het
Ptpro	A	T	6: 137,359,640 (GRCm39)	K403N	probably benign	Het
Rbck1	T	C	2: 152,172,886 (GRCm39)	D54G	possibly damaging	Het
Serpinb7	T	A	1: 107,363,076 (GRCm39)	L80*	probably null	Het
Setdb2	T	A	14: 59,639,863 (GRCm39)	Y676F	probably benign	Het
Skint1	G	T	4: 111,867,909 (GRCm39)	C12F	probably benign	Het
Slc22a26	T	A	19: 7,779,651 (GRCm39)	D55V	probably damaging	Het
Slc9a8	G	A	2: 167,266,211 (GRCm39)	V63I	probably damaging	Het
Sox2	T	A	3: 34,705,246 (GRCm39)	S228T	probably benign	Het
Spata31g1	A	G	4: 42,971,924 (GRCm39)	N419S	possibly damaging	Het
Spg11	A	G	2: 121,943,706 (GRCm39)	S149P	probably damaging	Het
Tbc1d19	T	A	5: 53,986,725 (GRCm39)	S45T	probably benign	Het
Tsacc	T	C	3: 88,202,703 (GRCm39)	E11G	probably benign	Het
Ttc7b	C	T	12: 100,461,666 (GRCm39)	A104T	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp108	T	A	7: 23,960,782 (GRCm39)	F458I	probably 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
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
R8212:Zfp616	UTSW	11	73,976,569 (GRCm39)	missense	probably 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'- CATTCCTCAAGTCTTAAAGGTCAC -3'
(R):5'- ACTTGAGGAACGGGCAAAATATTT -3'

Sequencing Primer
(F):5'- TCAAGTCTTAAAGGTCACCACAG -3'
(R):5'- CTTGAAGATTTGAAGACTGGGC -3'

Posted On

2018-06-06