Mutagenetix > Incidental Mutation

Incidental Mutation 'R1068:Zfp616'

86096

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

039154-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1068 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73960781-73978118 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to A at 73973767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Lysine at position 99 (*99K)

Ref Sequence

ENSEMBL: ENSMUSP00000112245 (fasta)

Gene Model

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

AlphaFold

J3QN14

Predicted Effect

probably null
Transcript: ENSMUST00000074813
AA Change: *99K

SMART Domains

Protein: ENSMUSP00000074365
Gene: ENSMUSG00000069476
AA Change: *99K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108463
AA Change: I103K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104103
Gene: ENSMUSG00000069476
AA Change: I103K

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

Predicted Effect

probably null
Transcript: ENSMUST00000116546
AA Change: *99K

SMART Domains

Protein: ENSMUSP00000112245
Gene: ENSMUSG00000069476
AA Change: *99K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119927

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137407

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178159
AA Change: I12K

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: I12K

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: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	A	T	18: 69,083,139 (GRCm39)	V25E	unknown	Het
Acsm4	C	A	7: 119,307,933 (GRCm39)	Q357K	probably benign	Het
Adam11	T	G	11: 102,667,204 (GRCm39)	L619R	probably damaging	Het
Ccne2	A	G	4: 11,192,850 (GRCm39)	N17S	probably benign	Het
Cfap52	T	C	11: 67,829,830 (GRCm39)	H313R	probably benign	Het
Chsy3	A	T	18: 59,543,361 (GRCm39)	H833L	probably damaging	Het
Csnk1a1	G	T	18: 61,702,634 (GRCm39)		probably null	Het
Cyp2c40	T	C	19: 39,801,025 (GRCm39)	K77E	possibly damaging	Het
Dmtf1	T	C	5: 9,186,109 (GRCm39)	E159G	probably damaging	Het
Fat3	C	T	9: 15,881,330 (GRCm39)	V3181I	probably benign	Het
Gab1	T	C	8: 81,526,801 (GRCm39)	D99G	possibly damaging	Het
Garem1	T	C	18: 21,301,812 (GRCm39)	E125G	probably benign	Het
Kcnf1	A	G	12: 17,225,475 (GRCm39)	Y249H	probably damaging	Het
Kit	C	T	5: 75,770,178 (GRCm39)	H197Y	probably benign	Het
Memo1	T	A	17: 74,532,550 (GRCm39)	I153F	probably damaging	Het
Myh7	T	A	14: 55,224,776 (GRCm39)	N597I	possibly damaging	Het
Nop2	A	G	6: 125,109,242 (GRCm39)	K23E	probably damaging	Het
Nxf1	T	A	19: 8,740,118 (GRCm39)	V95E	probably damaging	Het
Pamr1	T	A	2: 102,472,590 (GRCm39)	C630S	probably damaging	Het
Ptprh	G	T	7: 4,552,462 (GRCm39)	P934Q	possibly damaging	Het
Ralgapa1	A	G	12: 55,837,095 (GRCm39)		probably null	Het
Ralyl	T	A	3: 13,841,949 (GRCm39)	N28K	probably damaging	Het
Rasgrp1	A	G	2: 117,113,057 (GRCm39)	V785A	probably benign	Het
Rpp30	T	A	19: 36,061,138 (GRCm39)	M1K	probably null	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Snx19	G	A	9: 30,340,314 (GRCm39)	R484Q	probably damaging	Het
Speer4a1	A	T	5: 26,241,024 (GRCm39)	L156Q	probably null	Het
St18	A	G	1: 6,865,786 (GRCm39)	D88G	probably benign	Het
Syt7	T	C	19: 10,421,375 (GRCm39)	Y520H	probably benign	Het
Taf7l2	C	T	10: 115,949,359 (GRCm39)	V56I	probably damaging	Het
Tle4	C	G	19: 14,429,543 (GRCm39)	W674C	probably damaging	Het
Tnik	T	A	3: 28,587,124 (GRCm39)	Y132N	probably damaging	Het
Ugt2b38	T	G	5: 87,560,232 (GRCm39)	N361H	probably damaging	Het
Vps11	A	T	9: 44,264,316 (GRCm39)	L719Q	probably damaging	Het
Zc3h4	T	G	7: 16,163,161 (GRCm39)	H520Q	unknown	Het
Zdbf2	C	T	1: 63,342,589 (GRCm39)	R323C	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
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
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'- agaactctgcactCCTTGGAACAATG -3'
(R):5'- GAGTTTCCACAACTACCTTCCACATGAT -3'

Sequencing Primer
(F):5'- GCACTTCTGTGTTATATACTTTTGC -3'
(R):5'- CCTACATGGTAGAACTTGTCACAGAG -3'

Posted On

2013-11-18