Mutagenetix > Incidental Mutation

Incidental Mutation 'R8885:Fam210a'

677294

Institutional Source

Beutler Lab

Gene Symbol

Fam210a

Ensembl Gene

ENSMUSG00000038121

Gene Name

family with sequence similarity 210, member A

Synonyms

4933403F05Rik

MMRRC Submission

068751-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8885 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68393258-68433404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68409215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 32 (I32V)

Ref Sequence

ENSEMBL: ENSMUSP00000045927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042852] [ENSMUST00000152193]

AlphaFold

Q8BGY7

Predicted Effect

probably benign
Transcript: ENSMUST00000042852
AA Change: I32V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000045927
Gene: ENSMUSG00000038121
AA Change: I32V

Domain	Start	End	E-Value	Type
low complexity region	97	113	N/A	INTRINSIC
Pfam:DUF1279	125	212	4e-26	PFAM
coiled coil region	236	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152193
AA Change: I32V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122677
Gene: ENSMUSG00000038121
AA Change: I32V

Domain	Start	End	E-Value	Type
low complexity region	97	102	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (104/104)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality after E9.5. Mice heterozygous for this allele exhibit decreased bone strength, compact bone thickness, compact bone volume, bone mineral density and bone ossification with increased osteoclasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,471,525 (GRCm39)	S977C	possibly damaging	Het
Abca8a	T	A	11: 109,960,305 (GRCm39)	D646V	probably damaging	Het
Adss2	T	A	1: 177,597,526 (GRCm39)	Y378F	probably damaging	Het
Akap6	C	T	12: 53,188,319 (GRCm39)	A1911V	probably benign	Het
Alg2	T	C	4: 47,474,159 (GRCm39)	Y43C	probably benign	Het
Alk	A	C	17: 72,202,758 (GRCm39)	V1159G	probably damaging	Het
Alx3	A	T	3: 107,508,010 (GRCm39)	Q173L	probably damaging	Het
Aqp9	A	G	9: 71,069,593 (GRCm39)		probably benign	Het
Atf7ip	C	A	6: 136,564,141 (GRCm39)	L787I	probably benign	Het
Bbs9	A	T	9: 22,590,234 (GRCm39)	E657D	possibly damaging	Het
Bean1	G	A	8: 104,908,752 (GRCm39)		probably null	Het
Cactin	G	T	10: 81,157,082 (GRCm39)	R13L	unknown	Het
Ccdc178	T	C	18: 22,200,721 (GRCm39)	E412G	probably damaging	Het
Ccdc30	A	G	4: 119,181,759 (GRCm39)	I583T	probably damaging	Het
Ccl8	T	C	11: 82,006,933 (GRCm39)	Y49H	probably damaging	Het
Clptm1	T	A	7: 19,372,932 (GRCm39)	K199N	probably damaging	Het
Cnbp	G	A	6: 87,822,646 (GRCm39)	S39L	probably benign	Het
Cnih3	T	A	1: 181,237,437 (GRCm39)		probably benign	Het
Cnksr3	A	T	10: 7,090,201 (GRCm39)		probably benign	Het
Cntn1	A	G	15: 92,159,380 (GRCm39)	I512V	probably benign	Het
Col20a1	A	G	2: 180,640,296 (GRCm39)		probably benign	Het
Col28a1	A	T	6: 8,127,360 (GRCm39)		probably benign	Het
Col6a2	A	T	10: 76,450,741 (GRCm39)	Y63*	probably null	Het
Copa	T	G	1: 171,925,312 (GRCm39)	F190V	probably damaging	Het
Crisp4	A	C	1: 18,207,148 (GRCm39)		probably benign	Het
Cxcl2	C	T	5: 91,052,085 (GRCm39)	Q64*	probably null	Het
Cxcr5	T	C	9: 44,425,549 (GRCm39)	D36G	probably benign	Het
Cyp20a1	T	A	1: 60,411,765 (GRCm39)	V271E	possibly damaging	Het
D430041D05Rik	T	C	2: 104,071,538 (GRCm39)	Y570C	probably damaging	Het
Ddi1	T	G	9: 6,266,198 (GRCm39)	D57A	probably benign	Het
Ddx11	T	A	17: 66,450,460 (GRCm39)	S492T	probably benign	Het
Dhx34	C	T	7: 15,950,376 (GRCm39)	R264H	probably damaging	Het
Dnah3	T	A	7: 119,561,375 (GRCm39)	I328F		Het
Dnah5	C	T	15: 28,327,886 (GRCm39)	R2087C	probably damaging	Het
Dnah8	C	G	17: 30,927,286 (GRCm39)	S1314W	possibly damaging	Het
Dock2	T	C	11: 34,260,396 (GRCm39)	N982D	probably benign	Het
Dync1h1	A	G	12: 110,583,172 (GRCm39)	D423G	probably damaging	Het
Ect2l	A	C	10: 18,048,583 (GRCm39)	L213V	probably damaging	Het
Fancg	A	G	4: 43,007,266 (GRCm39)		probably null	Het
Fastkd5	T	C	2: 130,457,111 (GRCm39)	E493G	probably benign	Het
Fbxo38	T	C	18: 62,659,272 (GRCm39)	M342V	probably damaging	Het
Flnc	A	C	6: 29,455,410 (GRCm39)	K2020Q	probably damaging	Het
Flt4	A	G	11: 49,527,160 (GRCm39)		probably benign	Het
Frmd4b	G	T	6: 97,389,480 (GRCm39)	P129T	probably benign	Het
Galnt13	C	A	2: 54,770,138 (GRCm39)	A310E	probably benign	Het
Gm4884	T	A	7: 40,694,108 (GRCm39)	Y692*	probably null	Het
Gm6309	T	A	5: 146,105,103 (GRCm39)	D270V	probably damaging	Het
Grip1	G	T	10: 119,290,192 (GRCm39)		probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kdf1	G	T	4: 133,255,505 (GRCm39)	C74F	probably damaging	Het
Kdm1b	T	A	13: 47,207,184 (GRCm39)	C169*	probably null	Het
Kmt2c	G	T	5: 25,520,077 (GRCm39)	T2011K	probably benign	Het
Lama1	G	A	17: 68,080,779 (GRCm39)	G1269E		Het
Lamb3	C	T	1: 193,017,182 (GRCm39)	A791V	probably benign	Het
Leng9	G	T	7: 4,151,774 (GRCm39)	R301S	possibly damaging	Het
Lgr6	C	A	1: 134,915,342 (GRCm39)	V746L	probably benign	Het
Lrp5	T	A	19: 3,702,170 (GRCm39)	S216C	probably damaging	Het
Ltn1	T	C	16: 87,178,433 (GRCm39)	T1599A	probably damaging	Het
Map2k1	G	T	9: 64,094,606 (GRCm39)	N345K	probably damaging	Het
Map4k1	T	A	7: 28,688,862 (GRCm39)	D304E	probably benign	Het
Mcpt1	C	T	14: 56,256,522 (GRCm39)	T86I	probably damaging	Het
Mcpt9	T	C	14: 56,265,153 (GRCm39)	K116R	probably benign	Het
Morc2a	G	T	11: 3,628,584 (GRCm39)	A346S	probably damaging	Het
Mybpc3	A	T	2: 90,954,237 (GRCm39)	Q370L	probably benign	Het
Nars2	T	C	7: 96,652,095 (GRCm39)	S229P	probably damaging	Het
Ndufa10	A	T	1: 92,397,693 (GRCm39)	Y118N	probably damaging	Het
Nek11	A	T	9: 105,172,571 (GRCm39)		probably null	Het
Notch4	T	C	17: 34,803,470 (GRCm39)	V1463A	possibly damaging	Het
Nrcam	T	C	12: 44,610,908 (GRCm39)	I536T	probably benign	Het
Or6c202	T	C	10: 128,996,334 (GRCm39)	Y173C	probably benign	Het
Pbld1	A	T	10: 62,912,226 (GRCm39)	T285S	probably benign	Het
Pcdhgb8	A	T	18: 37,896,177 (GRCm39)	T416S	possibly damaging	Het
Plekhg6	T	C	6: 125,351,523 (GRCm39)	D242G	probably damaging	Het
Pnmt	T	A	11: 98,278,580 (GRCm39)	V182D	probably benign	Het
Ppp1r13b	G	T	12: 111,799,871 (GRCm39)	N758K	probably damaging	Het
Prex2	A	G	1: 11,240,799 (GRCm39)		probably benign	Het
Prss3	A	T	6: 41,354,512 (GRCm39)	L7Q	probably damaging	Het
Prss43	T	A	9: 110,660,046 (GRCm39)	L370Q	probably damaging	Het
Rac1	A	T	5: 143,493,885 (GRCm39)	V104E	probably damaging	Het
Rgs9	T	C	11: 109,166,449 (GRCm39)	Y107C	probably damaging	Het
Rnase13	C	T	14: 52,159,940 (GRCm39)	W66*	probably null	Het
Rrp1b	G	A	17: 32,270,688 (GRCm39)	V216I	possibly damaging	Het
Serinc1	A	G	10: 57,395,864 (GRCm39)	S309P	probably benign	Het
Serpine3	T	A	14: 62,902,587 (GRCm39)	L66Q	probably damaging	Het
Smc5	C	T	19: 23,191,234 (GRCm39)	V924M	probably damaging	Het
Spmip4	A	T	6: 50,551,028 (GRCm39)	Y474N	possibly damaging	Het
Srgap1	A	T	10: 121,761,545 (GRCm39)		probably benign	Het
Stab1	T	C	14: 30,883,771 (GRCm39)	E262G	possibly damaging	Het
Ston2	A	G	12: 91,606,498 (GRCm39)	*896R	probably null	Het
Syt6	A	G	3: 103,532,941 (GRCm39)	M442V	probably benign	Het
Tap1	T	C	17: 34,408,536 (GRCm39)		probably null	Het
Tbx3	A	C	5: 119,818,624 (GRCm39)	S420R	probably benign	Het
Tespa1	A	T	10: 130,198,316 (GRCm39)	Q446L	probably benign	Het
Tifab	T	C	13: 56,324,108 (GRCm39)	M112V	probably benign	Het
Trpv5	A	T	6: 41,630,192 (GRCm39)	S633T	possibly damaging	Het
Ttn	T	C	2: 76,684,236 (GRCm39)	K838R	unknown	Het
Ttn	A	T	2: 76,744,810 (GRCm39)	V5413E	probably damaging	Het
Tub	C	A	7: 108,628,793 (GRCm39)	N415K		Het
Vmn2r3	T	C	3: 64,182,383 (GRCm39)	M439V	probably benign	Het
Vps13c	A	G	9: 67,850,736 (GRCm39)	D2231G	probably benign	Het
Wbp1	C	T	6: 83,096,913 (GRCm39)	C118Y	unknown	Het
Zdhhc20	C	T	14: 58,127,671 (GRCm39)		probably benign	Het
Zfp217	T	A	2: 169,956,391 (GRCm39)	N869I	probably benign	Het
Zfp677	T	C	17: 21,618,350 (GRCm39)	I469T	probably benign	Het
Zmym2	T	A	14: 57,185,329 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,687,402 (GRCm39)	S94A	probably benign	Het

Other mutations in Fam210a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Fam210a	APN	18	68,401,983 (GRCm39)	missense	probably damaging	1.00
IGL00500:Fam210a	APN	18	68,408,854 (GRCm39)	missense	possibly damaging	0.70
PIT4519001:Fam210a	UTSW	18	68,409,020 (GRCm39)	missense	possibly damaging	0.92
R1660:Fam210a	UTSW	18	68,409,167 (GRCm39)	missense	probably benign	0.22
R4988:Fam210a	UTSW	18	68,409,218 (GRCm39)	missense	probably benign	0.17
R9075:Fam210a	UTSW	18	68,405,693 (GRCm39)	missense	probably damaging	1.00
R9557:Fam210a	UTSW	18	68,408,848 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AAAATGTCCTGCTCCCATCG -3'
(R):5'- AAGTGCCAGTTTGTCTGTCC -3'

Sequencing Primer
(F):5'- TCCCATCGTTCCTGGCGAAG -3'
(R):5'- GCTGAAACCCATCACTGT -3'

Posted On

2021-08-02