Mutagenetix > Incidental Mutation

Incidental Mutation 'R3744:Zfp616'

271129

Institutional Source

Beutler Lab

Gene Symbol

Zfp616

Ensembl Gene

ENSMUSG00000069476

Gene Name

zinc finger protein 616

Synonyms

Gm12330

MMRRC Submission

040730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

73960781-73978118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 73974813 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 452 (H452N)

Ref Sequence

ENSEMBL: ENSMUSP00000104103 (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
AA Change: H452N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104103
Gene: ENSMUSG00000069476
AA Change: H452N

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

unknown
Transcript: ENSMUST00000178159
AA Change: H361N

SMART Domains

Protein: ENSMUSP00000136549
Gene: ENSMUSG00000069476
AA Change: H361N

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

0.1087

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (33/33)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg1	T	C	17: 31,330,190 (GRCm39)		probably benign	Het
Aox4	C	T	1: 58,285,029 (GRCm39)	H594Y	probably damaging	Het
Aspn	G	A	13: 49,720,036 (GRCm39)	E351K	probably damaging	Het
BC004004	A	G	17: 29,520,423 (GRCm39)	*349W	probably null	Het
Elmo2	C	T	2: 165,157,922 (GRCm39)	D39N	probably damaging	Het
Fam161a	T	C	11: 22,970,410 (GRCm39)	F196S	probably damaging	Het
Fam186a	A	G	15: 99,845,416 (GRCm39)	V276A	unknown	Het
Fn3krp	T	C	11: 121,317,531 (GRCm39)		probably null	Het
Gnai3	T	C	3: 108,016,714 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,292,815 (GRCm39)		probably benign	Het
Igkv5-43	G	A	6: 69,752,921 (GRCm39)	H54Y	probably benign	Het
Kif26b	A	G	1: 178,506,595 (GRCm39)	I224V	probably benign	Het
Lyg1	T	C	1: 37,988,923 (GRCm39)	Y99C	probably benign	Het
Myh4	C	T	11: 67,146,141 (GRCm39)	R1400C	probably damaging	Het
Nf1	T	C	11: 79,439,573 (GRCm39)	S2262P	probably benign	Het
Pop5	T	C	5: 115,378,567 (GRCm39)	Y117H	possibly damaging	Het
Prpf8	T	A	11: 75,397,547 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rapgef6	T	C	11: 54,516,760 (GRCm39)	F54S	probably benign	Het
Sptb	T	C	12: 76,647,174 (GRCm39)	T1954A	probably benign	Het
Ssbp2	T	C	13: 91,828,765 (GRCm39)		probably benign	Het
Tap1	A	T	17: 34,412,586 (GRCm39)	D541V	probably damaging	Het
Tcte1	A	G	17: 45,850,597 (GRCm39)	D291G	probably damaging	Het
Tpbg	A	G	9: 85,727,215 (GRCm39)	R395G	probably damaging	Het
Trappc10	T	A	10: 78,034,924 (GRCm39)	S941C	probably benign	Het
Usp19	G	A	9: 108,377,380 (GRCm39)	R886Q	probably damaging	Het
Utp14b	G	T	1: 78,642,973 (GRCm39)	E290D	probably benign	Het
Vmn1r30	A	T	6: 58,412,804 (GRCm39)	Y9*	probably null	Het
Vmn2r97	A	G	17: 19,149,890 (GRCm39)	H426R	probably benign	Het
Vwa3a	A	G	7: 120,351,817 (GRCm39)	D27G	probably benign	Het
Zfp36	A	G	7: 28,077,201 (GRCm39)	S236P	probably benign	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
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'- CAGGATCATACCACATGGAGC -3'
(R):5'- GCTTGAAATACCATAAGGCCTGAG -3'

Sequencing Primer
(F):5'- GCCTTTATAAAAATGACTGGCAGG -3'
(R):5'- ACCATAAGGCCTGAGGATTTATTGG -3'

Posted On

2015-03-18