Mutagenetix > Incidental Mutation

Incidental Mutation 'R2404:Zfp616'

248876

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

040370-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2404 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73960781-73978118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 73975682 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 650 (K650N)

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: K650N

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

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: K650N

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

Meta Mutation Damage Score

0.1989

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.2%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N03Rik	T	C	7: 130,740,923 (GRCm39)	T98A	possibly damaging	Het
Aifm2	A	G	10: 61,563,974 (GRCm39)	I161V	probably benign	Het
Arhgef26	T	C	3: 62,336,336 (GRCm39)	M625T	possibly damaging	Het
Atp9a	T	A	2: 168,517,283 (GRCm39)		probably null	Het
Avpr1a	T	C	10: 122,285,115 (GRCm39)	F136L	possibly damaging	Het
Bcas3	T	C	11: 85,245,715 (GRCm39)		probably benign	Het
Bnc1	A	T	7: 81,618,463 (GRCm39)	H867Q	probably benign	Het
Cdh12	C	T	15: 21,537,720 (GRCm39)	T407I	probably damaging	Het
Chd5	C	T	4: 152,451,791 (GRCm39)	T701M	probably damaging	Het
Dhx57	A	G	17: 80,561,733 (GRCm39)	V927A	probably damaging	Het
Dnah2	A	G	11: 69,328,047 (GRCm39)	F3353L	probably damaging	Het
Ect2	G	A	3: 27,185,999 (GRCm39)	P495S	probably benign	Het
Egfl7	G	A	2: 26,479,162 (GRCm39)	E25K	possibly damaging	Het
Gm5117	T	C	8: 32,227,306 (GRCm39)		noncoding transcript	Het
Hbs1l	A	T	10: 21,171,946 (GRCm39)		probably benign	Het
Insrr	C	T	3: 87,709,974 (GRCm39)	T309I	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif12	A	C	4: 63,088,790 (GRCm39)	L170R	probably damaging	Het
Krt90	A	G	15: 101,463,105 (GRCm39)		probably null	Het
Mcu	A	G	10: 59,303,526 (GRCm39)	S104P	probably damaging	Het
Mical3	G	A	6: 120,936,789 (GRCm39)	P374S	probably benign	Het
Ncam2	A	T	16: 81,287,128 (GRCm39)		probably benign	Het
Or12e9	A	G	2: 87,202,568 (GRCm39)	I231V	probably benign	Het
Or2t47	A	T	11: 58,442,546 (GRCm39)	I173N	probably damaging	Het
Or2w1b	T	C	13: 21,300,012 (GRCm39)	L50P	probably damaging	Het
Or5k17	G	A	16: 58,745,998 (GRCm39)	S312L	probably benign	Het
Otud7a	A	G	7: 63,346,899 (GRCm39)	S158G	probably benign	Het
Phlpp1	C	T	1: 106,100,569 (GRCm39)	T279M	probably benign	Het
Pkhd1l1	T	G	15: 44,414,216 (GRCm39)	W2828G	probably damaging	Het
Pnma8a	A	T	7: 16,694,316 (GRCm39)	N57I	probably damaging	Het
Ppp4r4	A	G	12: 103,547,749 (GRCm39)		probably null	Het
Ptprq	T	C	10: 107,522,460 (GRCm39)	Y531C	probably damaging	Het
Rai1	A	G	11: 60,080,750 (GRCm39)	T1605A	probably benign	Het
Satb2	T	C	1: 56,987,267 (GRCm39)	Y106C	probably damaging	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc19a3	T	A	1: 83,000,756 (GRCm39)	H87L	probably benign	Het
Slc4a7	G	T	14: 14,733,733 (GRCm38)	V54L	probably damaging	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Spen	T	C	4: 141,205,216 (GRCm39)	N1137S	unknown	Het
Spice1	T	C	16: 44,186,989 (GRCm39)	I162T	probably benign	Het
Spmip1	G	A	6: 29,473,390 (GRCm39)	R173Q	probably benign	Het
Sqor	A	T	2: 122,649,943 (GRCm39)	T396S	probably benign	Het
Tshz3	A	T	7: 36,469,805 (GRCm39)	Q598L	probably damaging	Het
Ttc13	C	T	8: 125,405,736 (GRCm39)		probably benign	Het
Ubxn2a	T	C	12: 4,933,851 (GRCm39)	T187A	probably benign	Het
Usp28	T	C	9: 48,948,558 (GRCm39)		probably null	Het
Zc3h12a	T	C	4: 125,013,316 (GRCm39)	Y516C	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
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'- TTAAAGATCACCAGAGAATCCATGC -3'
(R):5'- AGTGCCTTTTAAGACTTGAGGACT -3'

Sequencing Primer
(F):5'- AGTCCTCAGGTCTTAAAAGGC -3'
(R):5'- GGACTGTCTAAAACTTTTCCCACAG -3'

Posted On

2014-11-11